292 results on '"Noor MA"'
Search Results
152. The large X-effect on secondary sexual characters and the genetics of variation in sex comb tooth number in Drosophila subobscura .
- Author
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Mittleman BE, Manzano-Winkler B, Hall JB, Korunes KL, and Noor MA
- Abstract
Genetic studies of secondary sexual traits provide insights into whether and how selection drove their divergence among populations, and these studies often focus on the fraction of variation attributable to genes on the X-chromosome. However, such studies may sometimes misinterpret the amount of variation attributable to the X-chromosome if using only simple reciprocal F
1 crosses, or they may presume sexual selection has affected the observed phenotypic variation. We examined the genetics of a secondary sexual trait, male sex comb size, in Drosophila subobscura . This species bears unusually large sex combs for its species group, and therefore, this trait may be a good candidate for having been affected by natural or sexual selection. We observed significant heritable variation in number of teeth of the distal sex comb across strains. While reciprocal F1 crosses seemed to implicate a disproportionate X-chromosome effect, further examination in the F2 progeny showed that transgressive autosomal effects inflated the estimate of variation associated with the X-chromosome in the F1 . Instead, the X-chromosome appears to confer the smallest contribution of all major chromosomes to the observed phenotypic variation. Further, we failed to detect effects on copulation latency or duration associated with the observed phenotypic variation. Overall, this study presents an examination of the genetics underlying segregating phenotypic variation within species and illustrates two common pitfalls associated with some past studies of the genetic basis of secondary sexual traits.- Published
- 2016
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153. Mistaken Identity: Another Bias in the Use of Relative Genetic Divergence Measures for Detecting Interspecies Introgression.
- Author
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Ritz KR and Noor MA
- Subjects
- Animals, Evolution, Molecular, Genetic Drift, Genetic Loci, Haplotypes, Sequence Analysis, DNA methods, Drosophila genetics, Gene Flow, Genetic Variation
- Abstract
Measures of genetic divergence have long been used to identify evolutionary processes operating within and between species. However, recent reviews have described a bias in the use of relative divergence measures towards incorrectly identifying genomic regions that are seemingly immune to introgression. Here, we present a novel and opposite bias of relative divergence measures: misidentifying regions of introgression between sister species. We examine two distinct haplotypes of intermediate frequency within Drosophila pseudoobscura at the DPSX009 locus. One of these haplotypes had lower relative divergence than another to sister species D. persimilis. Although we and others initially presumed one haplotype have spread via introgression between D. pseudoobscura and D. persimilis, absolute divergence measures and individual sequence analysis suggest that haplotype structuring occurred as the result of within-species processes. The potential for this type of misinference may occur with any haplotype that recently spread within a species. We conclude that absolute measures of genetic divergence are necessary for confirming putative regions of introgression., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2016
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154. In memoriam: Richard G. Harrison - his life and legacy.
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Howard DJ, Grosberg RK, Noor MA, Normark BB, Rand DM, Shaw KL, and Willett CS
- Subjects
- Animals, Gryllidae genetics, History, 20th Century, History, 21st Century, Genetics history, Hybridization, Genetic
- Abstract
Richard G. Harrison passed away unexpectedly on April 12th, 2016. In this memoriam we pay tribute to the life and legacy of an extraordinary scientist, mentor, friend, husband, and father., (© 2016 John Wiley & Sons Ltd.)
- Published
- 2016
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155. Recombining without Hotspots: A Comprehensive Evolutionary Portrait of Recombination in Two Closely Related Species of Drosophila.
- Author
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Smukowski Heil CS, Ellison C, Dubin M, and Noor MA
- Subjects
- Animals, Base Sequence, Drosophila enzymology, Genetic Variation, Genome, Histone-Lysine N-Methyltransferase genetics, Humans, Linkage Disequilibrium, Male, Meiosis genetics, Molecular Sequence Data, Pan troglodytes, Species Specificity, Drosophila genetics, Evolution, Molecular, Recombination, Genetic
- Abstract
Meiotic recombination rate varies across the genome within and between individuals, populations, and species in virtually all taxa studied. In almost every species, this variation takes the form of discrete recombination hotspots, determined in some mammals by a protein called PRDM9. Hotspots and their determinants have a profound effect on the genomic landscape, and share certain features that extend across the tree of life. Drosophila, in contrast, are anomalous in their absence of hotspots, PRDM9, and other species-specific differences in the determination of recombination. To better understand the evolution of meiosis and general patterns of recombination across diverse taxa, we present a truly comprehensive portrait of recombination across time, combining recently published cross-based contemporary recombination estimates from each of two sister species with newly obtained linkage-disequilibrium-based historic estimates of recombination from both of these species. Using Drosophila pseudoobscura and Drosophila miranda as a model system, we compare recombination rate between species at multiple scales, and we suggest that Drosophila replicate the pattern seen in human-chimpanzee in which recombination rate is conserved at broad scales. We also find evidence of a species-wide recombination modifier(s), resulting in both a present and historic genome-wide elevation of recombination rates in D. miranda, and identify broad scale effects on recombination from the presence of an inversion. Finally, we reveal an unprecedented view of the distribution of recombination in D. pseudoobscura, illustrating patterns of linked selection and where recombination is taking place. Overall, by combining these estimation approaches, we highlight key similarities and differences in recombination between Drosophila and other organisms., (© The Author(s) 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.)
- Published
- 2015
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156. Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer.
- Author
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Lawrenson K, Li Q, Kar S, Seo JH, Tyrer J, Spindler TJ, Lee J, Chen Y, Karst A, Drapkin R, Aben KK, Anton-Culver H, Antonenkova N, Baker H, Bandera EV, Bean Y, Beckmann MW, Berchuck A, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell IG, Carty K, Chang-Claude J, Chenevix-Trench G, Chen A, Chen Z, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Easton DT, Edwards RP, Eilber U, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goode EL, Goodman MT, Grownwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen ES, Jakubowska A, James P, Jensen A, Ji BT, Karlan BY, Kruger Kjaer S, Kelemen LE, Kellar M, Kelley JL, Kiemeney LA, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Nevanlinna H, McNeish I, Menon U, Modugno F, Moysich KB, Narod SA, Nedergaard L, Ness RB, Azmi MA, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Pearce CL, Pejovic T, Pelttari LM, Permuth-Wey J, Phelan CM, Pike MC, Poole EM, Ramus SJ, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schildkraut JM, Schwaab I, Sellers TA, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Sucheston L, Tangen IL, Teo SH, Terry KL, Thompson PJ, Timorek A, Tsai YY, Tworoger SS, van Altena AM, Van Nieuwenhuysen E, Vergote I, Vierkant RA, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Woo YL, Wu X, Wu AH, Yang H, Zheng W, Ziogas A, Monteiro A, Pharoah PD, Gayther SA, and Freedman ML
- Subjects
- Carcinoma, Ovarian Epithelial, Cell Line, Tumor, Female, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Homeodomain Proteins genetics, Homeodomain Proteins metabolism, Humans, Neoplasm Proteins metabolism, Neoplasms, Glandular and Epithelial metabolism, Nuchal Cord, Ovarian Neoplasms metabolism, Protein Binding, Genetic Association Studies, Neoplasm Proteins genetics, Neoplasms, Glandular and Epithelial genetics, Ovarian Neoplasms genetics, Quantitative Trait Loci
- Abstract
Genome-wide association studies have reported 11 regions conferring risk of high-grade serous epithelial ovarian cancer (HGSOC). Expression quantitative trait locus (eQTL) analyses can identify candidate susceptibility genes at risk loci. Here we evaluate cis-eQTL associations at 47 regions associated with HGSOC risk (P≤10(-5)). For three cis-eQTL associations (P<1.4 × 10(-3), FDR<0.05) at 1p36 (CDC42), 1p34 (CDCA8) and 2q31 (HOXD9), we evaluate the functional role of each candidate by perturbing expression of each gene in HGSOC precursor cells. Overexpression of HOXD9 increases anchorage-independent growth, shortens population-doubling time and reduces contact inhibition. Chromosome conformation capture identifies an interaction between rs2857532 and the HOXD9 promoter, suggesting this SNP is a leading causal variant. Transcriptomic profiling after HOXD9 overexpression reveals enrichment of HGSOC risk variants within HOXD9 target genes (P=6 × 10(-10) for risk variants (P<10(-4)) within 10 kb of a HOXD9 target gene in ovarian cells), suggesting a broader role for this network in genetic susceptibility to HGSOC.
- Published
- 2015
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157. Temporal Stability of Molecular Diversity Measures in Natural Populations of Drosophila pseudoobscura and Drosophila persimilis.
- Author
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Gredler JN, Hish AJ, and Noor MA
- Subjects
- Animals, DNA, Mitochondrial genetics, Drosophila classification, Genetic Loci, Haplotypes, Sequence Analysis, DNA, Time Factors, X Chromosome genetics, Drosophila genetics, Evolution, Molecular, Genetic Variation, Genetics, Population
- Abstract
Many molecular ecological and evolutionary studies sample wild populations at a single point in time, but that data represents genetic variation from a potentially unrepresentative snapshot in time. Variation across time in genetic parameters may occur quickly in species that produce multiple generations of offspring per year. Here, we compare genetic diversity in wild caught populations of Drosophila persimilis and Drosophila pseudoobscura collected 16 years apart at the same time of year and same site at 4 X-linked and 2 mitochondrial loci to assess genetic stability. We found no major changes in nucleotide diversity in either species, but we observed a drastic shift in Tajima's D between D. pseudoobscura timepoints at 1 locus associated with increased abundance of a set of related haplotypes. Our data also suggests that D. persimilis may have recently accelerated its demographic expansion. While the changes we observed were modest, this study reinforces the importance of considering potential temporal variation in genetic parameters within single populations over short evolutionary timescales., (© The American Genetic Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2015
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158. SEROPREVALENCE OF TOXOPLASMA GONDII IN RODENTS FROM VARIOUS LOCATIONS IN PENINSULAR MALAYSIA.
- Author
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Normaznah Y, Azizah MA, Azuan MI, Latifah I, Rahmat S, and Nasir MA
- Subjects
- Animals, Malaysia epidemiology, Rats parasitology, Rodent Diseases epidemiology, Rodent Diseases immunology, Seroepidemiologic Studies, Toxoplasmosis, Animal immunology, Tupaia parasitology, Antibodies, Protozoan immunology, Toxoplasma immunology, Toxoplasmosis, Animal epidemiology
- Abstract
Numerous studies have reported the prevalence of toxoplasmosis among Malaysians and various domestic animals; but there is paucity of information on its prevalence among rodents which could potentially contribute to the transmission of Toxoplasma gondii in both domestic and sylvatic fauna. Five hundred twenty-six rodents were captured from six locations in Malaysia and identified to species. Serum samples were collected from these rodents and tested for T.gondii antibodies using an immunofluorescent antibody test (IFAT). T.gondii antibodies were found in 5.9% (31/526) of the tested samples. Most of the positive antibodies were from commensal rats: Rattus exulans (9/64, 14.0%), Rattus argentiventer (2/8, 25%), Rattus rattus diardii (10/166, 6.0%) and Rattus tiomanicus (6/215, 2.7%). Only two of the forest rats were positive: Maxomys rajah (1/9, 11.1%) and Rattus bowersi (1/12, 8.3%). Eighteen point one percent of ground squirrels (Tupaia glis) tested (2/11) were positive for antibodies. The highest antibodies titer (1:1024) was found in Rattus exulans followed by T.glis (1:256). Sabak Bernam, Selangor had the highest prevalence (10.8%) followed by Baling, Kedah (5.0%) and Bagan Terap, Selangor (4.0%). None of the serum samples of rodents collected from Gua Musang, Kelantan; Jasin, Malacca; or Labis, Johor were positive. Our study reports for the first time the serologic prevalence of T.gondii antibodies among rodents in Peninsular Malaysia. Further studies are needed to confirm T.gondii infection among wild rodents, such as a bioassay, to assess their potential role in transmission of the parasite.
- Published
- 2015
159. Physiological Strategies to Improve the Performance of Spring Maize (Zea mays L.) Planted under Early and Optimum Sowing Conditions.
- Author
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Bakhtavar MA, Afzal I, Basra SM, Ahmad AU, and Noor MA
- Subjects
- Seeds metabolism, Seeds physiology, Temperature, Water metabolism, Zea mays metabolism, Zea mays physiology
- Abstract
Low temperature at stand establishment and high temperature at reproductive stage are involved in reduction of grain yield of spring maize. A field study was therefore conducted to evaluate different physiological strategies for improving performance of spring maize under temperature extremes. Seed priming and foliar spray with 3% moringa leaf extract (MLE) and 100 mg L-1 kinetin solution alone or in all possible combinations with each other at three growth stages (knee height, tasseling and grain filling stage) and hydropriming was compared with control. Seed priming plus foliar spray of MLE and kinetin significantly improved stand establishment especially under early sown crop as indicated by reduced mean emergence time (MET), improved emergence index (EI) and final emergence percentage (FEP). Similarly increased chlorophyll contents, crop growth rate, leaf area index, photosynthetic rate, transpiration rate, relative water content and decreased membrane permeability were recorded in both early and optimum sowing conditions in MLE priming plus foliar spray treatment. All these improvements were harvested in the form of increased yield and harvest index compared with control treatment. Overall crop sown at optimum time performed best but exogenous application of MLE through seed priming and foliar spray maximally improved the performance of early sown maize crop which is attributed more likely due to improved stand establishment, chlorophyll and phenolic contents, increased leaf area duration and grain filling period. It can be concluded that seed priming with MLE along with its foliar spray could increase production of maize under temperature extremes.
- Published
- 2015
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160. Phenotypic and functional characterization of long-term cryopreserved human adipose-derived stem cells.
- Author
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Yong KW, Pingguan-Murphy B, Xu F, Abas WA, Choi JR, Omar SZ, Azmi MA, Chua KH, and Wan Safwani WK
- Subjects
- Adipogenesis, Adult, Cell Culture Techniques, Cell Differentiation, Cell Proliferation, Cell Self Renewal, Cell Separation, Cell Survival, Chondrogenesis, Cryopreservation, Female, Humans, Immunophenotyping, Osteogenesis, Time Factors, Young Adult, Adipose Tissue cytology, Adult Stem Cells cytology, Adult Stem Cells metabolism, Phenotype
- Abstract
Cryopreservation represents an effective technique to maintain the functional properties of human adipose-derived stem cells (ASCs) and allows pooling of cells via long-term storage for clinical applications, e.g., cell-based therapies. It is crucial to reduce freezing injury during the cryopreservation process by loading the ASCs with the optimum concentration of suitable cryoprotective agents (CPAs). In this study, human ASCs were preserved for 3 months in different combinations of CPAs, including 1) 0.25 M trehalose; 2) 5% dimethylsulfoxide (DMSO); 3) 10% DMSO; 4) 5% DMSO + 20% fetal bovine serum (FBS); 5) 10% DMSO + 20% FBS; 6) 10% DMSO + 90% FBS. Interestingly, even with a reduction of DMSO to 5% and without FBS, cryopreserved ASCs maintained high cell viability comparable with standard cryomedium (10% DMSO + 90% FBS), with normal cell phenotype and proliferation rate. Cryopreserved ASCs also maintained their differentiation capability (e.g., to adipocytes, osteocytes and chondrocytes) and showed an enhanced expression level of stemness markers (e.g., NANOG, OCT-4, SOX-2 and REX-1). Our findings suggest that 5% DMSO without FBS may be an ideal CPA for an efficient long-term cryopreservation of human ASCs. These results aid in establishing standardized xeno-free long-term cryopreservation of human ASCs for clinical applications.
- Published
- 2015
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161. Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
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Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI, Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C, Lester J, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA, Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ, Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I, Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G, Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC, and Chenevix-Trench G
- Subjects
- Adolescent, Adult, Alleles, Carcinoma, Ovarian Epithelial, Female, Genes, Reporter, Genotype, Heterozygote, Humans, Mutation, Quantitative Trait Loci, Risk, Young Adult, BRCA1 Protein genetics, BRCA2 Protein genetics, Genetic Predisposition to Disease, Genome-Wide Association Study methods, Neoplasms, Glandular and Epithelial genetics, Ovarian Neoplasms genetics, Polymorphism, Single Nucleotide
- Abstract
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.
- Published
- 2015
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162. Fractionation of oil palm frond hemicelluloses by water or alkaline impregnation and steam explosion.
- Author
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Sabiha-Hanim S, Mohd Noor MA, and Rosma A
- Subjects
- Chemical Fractionation, Chromatography, Gel, Hot Temperature, Hydroxides chemistry, Molecular Weight, Potassium Compounds chemistry, Spectroscopy, Fourier Transform Infrared, Water chemistry, Arecaceae, Plant Leaves chemistry, Polysaccharides chemistry
- Abstract
Steam explosion of oil palm frond has been carried out under different temperatures between 180 and 210°C for 4 min (severity of 2.96-3.84) after impregnation of the frond chips with water or KOH solution. The effects of impregnation and steam explosion conditions of oil palm fronds on the water soluble fraction and insoluble fraction were investigated. The maximum yield of hemicelluloses in water soluble fractions recovered was 23.49% and 25.33% for water and KOH impregnation, treated with steam explosion at temperature of 210°C (severity of 3.84) with a fractionation efficiency of 77.30% and 83.32%, respectively. Under this condition, the water insoluble fractions contained celluloses at 60.83% and 64.80% for water and KOH impregnation, respectively. The steam explosion temperature of 210°C for 4 min (logR(o) 3.84) was found to be the best condition in the extraction of hemicelluloses from OPF for both types of impregnation., (Copyright © 2014 Elsevier Ltd. All rights reserved.)
- Published
- 2015
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163. How big is your Y? A genome sequence-based estimate of the size of the male-specific region in Megaselia scalaris.
- Author
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Hoehn KB and Noor MA
- Subjects
- Animals, Evolution, Molecular, Female, Genome, Insect, Male, Diptera genetics, Y Chromosome genetics
- Abstract
The scuttle fly, Megaselia scalaris, is often cited as a model in which to study early sex chromosome evolution because of its homomorphic sex chromosomes, low but measurable molecular differentiation between sex chromosomes, and occasional transposition of the male-determining element to different chromosomes in laboratory cultures. Counterintuitively, natural isolates consistently show sex linkage to the second chromosome. Frequent natural transposition of the male-determining element should lead to the loss of male specificity of any nontransposed material on the previous sex-linked chromosome pair. Using next-generation sequencing data from a newly obtained natural isolate of M. scalaris, we show that even highly conservative estimates for the size of the male-specific genome are likely too large to be contained within a transposable element. This result strongly suggests that transposition of the male-determining region either is extremely rare or has not persisted recently in natural populations, allowing for differentiation of the sex chromosomes of this species., (Copyright © 2015 Hoehn and Noor.)
- Published
- 2014
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164. Genetics and evolution: an iOS application to supplement introductory courses in transmission and evolutionary genetics.
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Myers RB, Millman B, and Noor MA
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- Crosses, Genetic, Genetics, Population, Humans, Inheritance Patterns, Universities, Web Browser, Biological Evolution, Genetics education, Software
- Abstract
Students in college courses struggle to understand many concepts fundamental to transmission and evolutionary genetics, including multilocus inheritance, recombination, Hardy-Weinberg, and genetic drift. These students consistently ask for more demonstrations and more practice problems. With this demand in mind, the "Genetics and Evolution" app was designed to help students (and their instructors) by providing a suite of tools granting them the ability to: (1) simulate genetic crosses with varying numbers of genes and patterns of inheritance, (2) simulate allele frequency changes under natural selection and/ or genetic drift, (3) quiz themselves to reinforce terminology (customizable by any instructor for their whole classroom), *4) solve various problems (recombination fractions, Hardy-Weinberg, heritability, population growth), and (5) generate literally an infinite number of practice problems in all of these areas to try on their own. Although some of these functions are available elsewhere, the alternatives do not have the ability to instantly generate new practice problems or achieve these diverse functions in devices that students carry in their pockets every day., (Copyright © 2014 Myers et al.)
- Published
- 2014
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165. How hot are drosophila hotspots? examining recombination rate variation and associations with nucleotide diversity, divergence, and maternal age in Drosophila pseudoobscura.
- Author
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Manzano-Winkler B, McGaugh SE, and Noor MA
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- Animals, Crosses, Genetic, Crossing Over, Genetic, DNA, Intergenic, Maternal Age, Drosophila genetics, Genetic Variation, Recombination, Genetic
- Abstract
Fine scale meiotic recombination maps have uncovered a large amount of variation in crossover rate across the genomes of many species, and such variation in mammalian and yeast genomes is concentrated to <5kb regions of highly elevated recombination rates (10-100x the background rate) called "hotspots." Drosophila exhibit substantial recombination rate heterogeneity across their genome, but evidence for these highly-localized hotspots is lacking. We assayed recombination across a 40Kb region of Drosophila pseudoobscura chromosome 2, with one 20kb interval assayed every 5Kb and the adjacent 20kb interval bisected into 10kb pieces. We found that recombination events across the 40kb stretch were relatively evenly distributed across each of the 5kb and 10kb intervals, rather than concentrated in a single 5kb region. This, in combination with other recent work, indicates that the recombination landscape of Drosophila may differ from the punctate recombination pattern observed in many mammals and yeast. Additionally, we found no correlation of average pairwise nucleotide diversity and divergence with recombination rate across the 20kb intervals, nor any effect of maternal age in weeks on recombination rate in our sample.
- Published
- 2013
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166. Studying recombination with high-throughput sequencing: an educational primer for use with "fine-scale heterogeneity in crossover rate in the garnet-scalloped region of the Drosophila melanogaster X chromosome".
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Heil CS and Noor MA
- Subjects
- Animals, Adaptor Protein Complex 3 genetics, Adaptor Protein Complex delta Subunits genetics, Chromosomes, Insect genetics, Crossing Over, Genetic, Drosophila Proteins genetics, Drosophila melanogaster genetics, Eye Proteins genetics, Genetic Heterogeneity, Transcription Factors genetics, X Chromosome genetics
- Abstract
An article by Singh and colleagues in this issue of GENETICS quantifies variation in recombination rate across a small region of the Drosophila melanogaster genome, providing an opportunity for instructors of genetics to introduce or reinforce important concepts such as recombination and recombination rate variation, genome sequencing, and sequence features of the genome. Additional background information, a detailed explanation of the methods used in this study, and discussion questions are provided.
- Published
- 2013
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167. The 2013 Novitski Prize: Jonathan Pritchard.
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Noor MA
- Subjects
- Animals, Drosophila genetics, England, Genetics, Population, History, 20th Century, History, 21st Century, Humans, Software, United States, Awards and Prizes, Genetics history
- Published
- 2013
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168. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
- Author
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Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F, Vergote I, Lambrechts S, Despierre E, Risch HA, González-Neira A, Rossing MA, Pita G, Doherty JA, Alvarez N, Larson MC, Fridley BL, Schoof N, Chang-Claude J, Cicek MS, Peto J, Kalli KR, Broeks A, Armasu SM, Schmidt MK, Braaf LM, Winterhoff B, Nevanlinna H, Konecny GE, Lambrechts D, Rogmann L, Guénel P, Teoman A, Milne RL, Garcia JJ, Cox A, Shridhar V, Burwinkel B, Marme F, Hein R, Sawyer EJ, Haiman CA, Wang-Gohrke S, Andrulis IL, Moysich KB, Hopper JL, Odunsi K, Lindblom A, Giles GG, Brenner H, Simard J, Lurie G, Fasching PA, Carney ME, Radice P, Wilkens LR, Swerdlow A, Goodman MT, Brauch H, Garcia-Closas M, Hillemanns P, Winqvist R, Dürst M, Devilee P, Runnebaum I, Jakubowska A, Lubinski J, Mannermaa A, Butzow R, Bogdanova NV, Dörk T, Pelttari LM, Zheng W, Leminen A, Anton-Culver H, Bunker CH, Kristensen V, Ness RB, Muir K, Edwards R, Meindl A, Heitz F, Matsuo K, du Bois A, Wu AH, Harter P, Teo SH, Schwaab I, Shu XO, Blot W, Hosono S, Kang D, Nakanishi T, Hartman M, Yatabe Y, Hamann U, Karlan BY, Sangrajrang S, Kjaer SK, Gaborieau V, Jensen A, Eccles D, Høgdall E, Shen CY, Brown J, Woo YL, Shah M, Azmi MA, Luben R, Omar SZ, Czene K, Vierkant RA, Nordestgaard BG, Flyger H, Vachon C, Olson JE, Wang X, Levine DA, Rudolph A, Weber RP, Flesch-Janys D, Iversen E, Nickels S, Schildkraut JM, Silva Idos S, Cramer DW, Gibson L, Terry KL, Fletcher O, Vitonis AF, van der Schoot CE, Poole EM, Hogervorst FB, Tworoger SS, Liu J, Bandera EV, Li J, Olson SH, Humphreys K, Orlow I, Blomqvist C, Rodriguez-Rodriguez L, Aittomäki K, Salvesen HB, Muranen TA, Wik E, Brouwers B, Krakstad C, Wauters E, Halle MK, Wildiers H, Kiemeney LA, Mulot C, Aben KK, Laurent-Puig P, Altena AM, Truong T, Massuger LF, Benitez J, Pejovic T, Perez JI, Hoatlin M, Zamora MP, Cook LS, Balasubramanian SP, Kelemen LE, Schneeweiss A, Le ND, Sohn C, Brooks-Wilson A, Tomlinson I, Kerin MJ, Miller N, Cybulski C, Henderson BE, Menkiszak J, Schumacher F, Wentzensen N, Le Marchand L, Yang HP, Mulligan AM, Glendon G, Engelholm SA, Knight JA, Høgdall CK, Apicella C, Gore M, Tsimiklis H, Song H, Southey MC, Jager A, den Ouweland AM, Brown R, Martens JW, Flanagan JM, Kriege M, Paul J, Margolin S, Siddiqui N, Severi G, Whittemore AS, Baglietto L, McGuire V, Stegmaier C, Sieh W, Müller H, Arndt V, Labrèche F, Gao YT, Goldberg MS, Yang G, Dumont M, McLaughlin JR, Hartmann A, Ekici AB, Beckmann MW, Phelan CM, Lux MP, Permuth-Wey J, Peissel B, Sellers TA, Ficarazzi F, Barile M, Ziogas A, Ashworth A, Gentry-Maharaj A, Jones M, Ramus SJ, Orr N, Menon U, Pearce CL, Brüning T, Pike MC, Ko YD, Lissowska J, Figueroa J, Kupryjanczyk J, Chanock SJ, Dansonka-Mieszkowska A, Jukkola-Vuorinen A, Rzepecka IK, Pylkäs K, Bidzinski M, Kauppila S, Hollestelle A, Seynaeve C, Tollenaar RA, Durda K, Jaworska K, Hartikainen JM, Kosma VM, Kataja V, Antonenkova NN, Long J, Shrubsole M, Deming-Halverson S, Lophatananon A, Siriwanarangsan P, Stewart-Brown S, Ditsch N, Lichtner P, Schmutzler RK, Ito H, Iwata H, Tajima K, Tseng CC, Stram DO, van den Berg D, Yip CH, Ikram MK, Teh YC, Cai H, Lu W, Signorello LB, Cai Q, Noh DY, Yoo KY, Miao H, Iau PT, Teo YY, McKay J, Shapiro C, Ademuyiwa F, Fountzilas G, Hsiung CN, Yu JC, Hou MF, Healey CS, Luccarini C, Peock S, Stoppa-Lyonnet D, Peterlongo P, Rebbeck TR, Piedmonte M, Singer CF, Friedman E, Thomassen M, Offit K, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Garber J, Narod SA, Weitzel JN, Montagna M, Olah E, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Imyanitov EN, Tihomirova L, Arun BK, Campbell I, Mensenkamp AR, van Asperen CJ, van Roozendaal KE, Meijers-Heijboer H, Collée JM, Oosterwijk JC, Hooning MJ, Rookus MA, van der Luijt RB, Os TA, Evans DG, Frost D, Fineberg E, Barwell J, Walker L, Kennedy MJ, Platte R, Davidson R, Ellis SD, Cole T, Bressac-de Paillerets B, Buecher B, Damiola F, Faivre L, Frenay M, Sinilnikova OM, Caron O, Giraud S, Mazoyer S, Bonadona V, Caux-Moncoutier V, Toloczko-Grabarek A, Gronwald J, Byrski T, Spurdle AB, Bonanni B, Zaffaroni D, Giannini G, Bernard L, Dolcetti R, Manoukian S, Arnold N, Engel C, Deissler H, Rhiem K, Niederacher D, Plendl H, Sutter C, Wappenschmidt B, Borg A, Melin B, Rantala J, Soller M, Nathanson KL, Domchek SM, Rodriguez GC, Salani R, Kaulich DG, Tea MK, Paluch SS, Laitman Y, Skytte AB, Kruse TA, Jensen UB, Robson M, Gerdes AM, Ejlertsen B, Foretova L, Savage SA, Lester J, Soucy P, Kuchenbaecker KB, Olswold C, Cunningham JM, Slager S, Pankratz VS, Dicks E, Lakhani SR, Couch FJ, Hall P, Monteiro AN, Gayther SA, Pharoah PD, Reddel RR, Goode EL, Greene MH, Easton DF, Berchuck A, Antoniou AC, Chenevix-Trench G, and Dunning AM
- Subjects
- Alternative Splicing, Breast Neoplasms pathology, Case-Control Studies, Chromatin genetics, DNA Methylation, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Luciferases metabolism, Oligonucleotide Array Sequence Analysis, Ovarian Neoplasms pathology, RNA, Messenger genetics, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Risk Factors, Biomarkers, Tumor genetics, Breast Neoplasms etiology, Genetic Loci genetics, Ovarian Neoplasms etiology, Polymorphism, Single Nucleotide genetics, Telomerase genetics, Telomere genetics
- Abstract
TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10(-12)) and BRCA1 mutation carrier (P = 1.6 × 10(-14)) breast and invasive ovarian (P = 1.3 × 10(-11)) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.
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- 2013
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169. Witnessing Phenotypic and Molecular Evolution in the Fruit Fly.
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Heil CS, Hunter MJ, Noor JK, Miglia K, Manzano-Winkler B, McDermott SR, and Noor MA
- Abstract
This multi-day exercise is designed for a college Genetics and Evolution laboratory to demonstrate concepts of inheritance and phenotypic and molecular evolution using a live model organism, Drosophila simulans . Students set up an experimental fruit fly population consisting of ten white eyed flies and one red eyed fly. Having red eyes is advantageous compared to having white eyes, allowing students to track the spread of this advantageous trait over several generations. Ultimately, the students perform PCR and gel electrophoresis at two neutral markers, one located in close proximity to the eye-color locus, and one located at the other end of the chromosome. Students observe that most flies have red eyes, and these red-eyed flies have lost variation at the near marker, but maintained variation at the far marker, hence observing a "selective sweep" and the "hitchhiking" of a nearby neutral variant. Students literally observe phenotypic and molecular evolution in their classroom!
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- 2012
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170. Effects of premature termination codon polymorphisms in the Drosophila pseudoobscura subclade.
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Hoehn KB, McGaugh SE, and Noor MA
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- Animals, Computational Biology, Least-Squares Analysis, Organ Specificity, Polymerase Chain Reaction, Recombination, Genetic, Reproducibility of Results, Sequence Analysis, DNA, Codon, Nonsense, Drosophila genetics, Genome, Insect
- Abstract
Premature termination codon (PTC) mutations can have dramatic effects--both adaptive and deleterious--on gene expression and function. Here, we examine the number and selective effects of PTC mutations within the Drosophila pseudoobscura subclade using 18 resequenced genomes aligned to the reference genome. We located and characterized 1,679 PTC mutations in 605 genes across each of these genomes relative to the D. pseudoobscura reference genome, and use RT-PCR to confirm transcription of a subset of these genes containing PTC mutations. We confirm previous findings that genes containing PTC mutations are less selectively constrained and less broadly expressed than non-PTC-containing genes, suggesting that the most of these mutations are at least mildly deleterious. Further, we find highly significant codon usage bias in regions downstream of the PTC in 38 of these PTC-containing genes, suggesting that some of these PTC mutations--if not alternatively spliced out of the transcript--have neutral effects. Ultimately, these analyzes support the view that the PTC mutations are mostly detrimental, but are nonetheless common enough in genomes that a subset could be effectively neutral.
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- 2012
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171. Geographic selection in the small heat shock gene complex differentiating populations of Drosophila pseudoobscura.
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Graham AM, Merrill JD, McGaugh SE, and Noor MA
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- Adaptation, Biological genetics, Animals, Arizona, Climate, Drosophila, Evolution, Molecular, Gene Conversion, Gene Flow, Linkage Disequilibrium, Male, Models, Genetic, Polymorphism, Genetic, Selection, Genetic, Sequence Analysis, DNA, Washington, Drosophila Proteins genetics, Heat-Shock Proteins genetics
- Abstract
Environmental temperature plays a crucial role in determining a species distribution and abundance by affecting individual physiological processes, metabolic activities, and developmental rates. Many studies have identified clinal variation in phenotypes associated with response to environmental stresses, but variation in traits associated with climatic adaptation directly attributed to sequence variation within candidate gene regions has been difficult to identify. Insect heat shock genes are possible agents of thermal tolerance because of their involvement in protein folding, traffic, protection, and renaturation at the cellular level in response to temperature stress. Previously, members of the Drosophila small heat shock protein (sHSP) complex (Hsp23, Hsp26, Hsp27, Hsp67Ba) have been implicated as candidate climatic adaptation genes; therefore, this research examines sequence variation at these genes in 2 distant populations of Drosophila pseudoobscura. Flies from Tempe, AZ (n = 30) and Cheney, WA (n = 17) were used in the study. We identify high differentiation in the heat-shock complex (F(ST) : 0.219**, 0.262*, 0.279***, 0.166 not significant) as compared with neighboring genes and Tajima's D values indicative of balancing selection (Mann-Whitney U = 38, n(1) = 10 n(2) = 4, P < 0.05 two-tailed), both of which are suggestive of such climatic adaptation.
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- 2012
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172. In vitro antimicrobial and brine shrimp lethality of Allophylus cobbe L.
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Islam MT, Noor MA, Karon B, and de Freitas RM
- Abstract
Plants are rich source of pharmacologically active agents, which could be explored in disease management. Methanol, ethanol, and petroleum ether extracts of the whole plant of Allophylus cobbe L. were evaluated for antimicrobial and cytotoxic activities. In vitro antimicrobial sensitivity by disk diffusion method was conducted against four Gram-positive and seven Gram-negative pathogenic bacteria and seven fungi. In the antibacterial and antifungal sensitivity tests, growth inhibition was found to be within the range of 10.0-17.67 mm. Strong zone of inhibition by the ethanol extract of A. cobbe (EEAC) was found against Trichophyton spp. With some exceptions, a mild to strong antimicrobial activity was observed in this study. Significant minimum inhibitory concentration (MIC; 15.625 μg/ml) was found against Trichophyton spp. Other detected MICs were within the range of 31.25-125 μg/ml. The petroleum ether extract of the plant exhibited strong cytotoxicity in the brine shrimp lethality bioassay test.
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- 2012
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173. Genomic impacts of chromosomal inversions in parapatric Drosophila species.
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McGaugh SE and Noor MA
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- Alleles, Animals, Chromosomes, Insect genetics, Crossing Over, Genetic, Female, Gene Flow, Genetic Speciation, Genetic Variation, Reproductive Isolation, Selection, Genetic, Sympatry, X Chromosome genetics, Chromosome Inversion genetics, Drosophila genetics, Genome, Insect
- Abstract
Chromosomal inversions impact genetic variation and facilitate speciation in part by reducing recombination in heterokaryotypes. We generated multiple whole-genome shotgun sequences of the parapatric species pair Drosophila pseudoobscura and Drosophila persimilis and their sympatric outgroup (Drosophila miranda) and compared the average pairwise differences for neutral sites within, just outside and far outside of the three large inversions. Divergence between D. pseudoobscura and D. persimilis is high inside the inversions and in the suppressed recombination regions extending 2.5 Mb outside of inversions, but significantly lower in collinear regions further from the inversions. We observe little evidence of decreased divergence predicted to exist in the centre of inversions, suggesting that gene flow through double crossovers or gene conversion is limited within the inversion, or selection is acting within the inversion to maintain divergence in the face of gene flow. In combination with past studies, we provide evidence that inversions in this system maintain areas of high divergence in the face of hybridization, and have done so for a substantial period of time. The left arm of the X chromosome and chromosome 2 inversions appear to have arisen in the lineage leading to D. persimilis approximately 2 Ma, near the time of the split of D. persimilis-D. pseudoobscura-D. miranda, but likely fixed within D. persimilis much more recently, as diversity within D. persimilis is substantially reduced inside and near these two inversions. We also hypothesize that the inversions in D. persimilis may provide an empirical example of the 'mixed geographical mode' theory of inversion origin and fixation, whereby allopatry and secondary contact both play a role.
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- 2012
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174. Recombination modulates how selection affects linked sites in Drosophila.
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McGaugh SE, Heil CS, Manzano-Winkler B, Loewe L, Goldstein S, Himmel TL, and Noor MA
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- Animals, Base Sequence, Chromosome Mapping, Chromosomes, Insect genetics, Codon genetics, Confidence Intervals, Conserved Sequence, Evolution, Molecular, Genetic Variation, Genetics, Population methods, Linear Models, Species Specificity, Telomere genetics, Drosophila genetics, Genetic Linkage, Genome, Insect, Recombination, Genetic, Selection, Genetic
- Abstract
One of the most influential observations in molecular evolution has been a strong association between local recombination rate and nucleotide polymorphisms across the genome. This is interpreted as evidence for ubiquitous natural selection. The alternative explanation, that recombination is mutagenic, has been rejected by the absence of a similar association between local recombination rate and nucleotide divergence between species. However, many recent studies show that recombination rates are often very different even in closely related species, questioning whether an association between recombination rate and divergence between species has been tested satisfactorily. To circumvent this problem, we directly surveyed recombination across approximately 43% of the D. pseudoobscura physical genome in two separate recombination maps and 31% of the D. miranda physical genome, and we identified both global and local differences in recombination rate between these two closely related species. Using only regions with conserved recombination rates between and within species and accounting for multiple covariates, our data support the conclusion that recombination is positively related to diversity because recombination modulates Hill-Robertson effects in the genome and not because recombination is predominately mutagenic. Finally, we find evidence for dips in diversity around nonsynonymous substitutions. We infer that at least some of this reduction in diversity resulted from selective sweeps and examine these dips in the context of recombination rate., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2012
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175. Zinc finger binding motifs do not explain recombination rate variation within or between species of Drosophila.
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Heil CS and Noor MA
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- Animals, Base Sequence, Drosophila Proteins chemistry, Drosophila Proteins metabolism, Humans, Mice, Models, Molecular, Molecular Sequence Data, Protein Binding genetics, Reproducibility of Results, Sequence Homology, Amino Acid, Species Specificity, Drosophila genetics, Recombination, Genetic, Zinc Fingers
- Abstract
In humans and mice, the Cys(2)His(2) zinc finger protein PRDM9 binds to a DNA sequence motif enriched in hotspots of recombination, possibly modifying nucleosomes, and recruiting recombination machinery to initiate Double Strand Breaks (DSBs). However, since its discovery, some researchers have suggested that the recombinational effect of PRDM9 is lineage or species specific. To test for a conserved role of PRDM9-like proteins across taxa, we use the Drosophila pseudoobscura species group in an attempt to identify recombination associated zinc finger proteins and motifs. We leveraged the conserved amino acid motifs in Cys(2)His(2) zinc fingers to predict nucleotide binding motifs for all Cys(2)His(2) zinc finger proteins in Drosophila pseudoobscura and identified associations with empirical measures of recombination rate. Additionally, we utilized recombination maps from D. pseudoobscura and D. miranda to explore whether changes in the binding motifs between species can account for changes in the recombination landscape, analogous to the effect observed in PRDM9 among human populations. We identified a handful of potential recombination-associated sequence motifs, but the associations are generally tenuous and their biological relevance remains uncertain. Furthermore, we found no evidence that changes in zinc finger DNA binding explains variation in recombination rate between species. We therefore conclude that there is no protein with a DNA sequence specific human-PRDM9-like function in Drosophila. We suggest these findings could be explained by the existence of a different recombination initiation system in Drosophila.
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- 2012
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176. Recombination rate variation in closely related species.
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Smukowski CS and Noor MA
- Subjects
- Animals, Evolution, Molecular, Humans, Pan troglodytes genetics, Selection, Genetic, Eukaryota genetics, Genome, Recombination, Genetic
- Abstract
Despite their importance to successful meiosis and various evolutionary processes, meiotic recombination rates sometimes vary within species or between closely related species. For example, humans and chimpanzees share virtually no recombination hotspot locations in the surveyed portion of the genomes. However, conservation of recombination rates between closely related species has also been documented, raising an apparent contradiction. Here, we evaluate how and why conflicting patterns of recombination rate conservation and divergence may be observed, with particular emphasis on features that affect recombination, and the scale and method with which recombination is surveyed. Additionally, we review recent studies identifying features influencing fine-scale and broad-scale recombination patterns and informing how quickly recombination rates evolve, how changes in recombination impact selection and evolution in natural populations, and more broadly, which forces influence genome evolution.
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- 2011
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177. Genetics of hybrid male sterility among strains and species in the Drosophila pseudoobscura species group.
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McDermott SR and Noor MA
- Subjects
- Alleles, Animals, Biological Evolution, Chromosome Inversion genetics, Drosophila classification, Drosophila physiology, Male, Quantitative Trait Loci, Reproduction, Species Specificity, Drosophila genetics, Genome, Insect, Hybridization, Genetic
- Abstract
Taxa in the early stages of speciation may bear intraspecific allelic variation at loci conferring barrier traits in hybrids such as hybrid sterility. Additionally, hybridization may spread alleles that confer barrier traits to other taxa. Historically, few studies examine within- and between-species variation at loci conferring reproductive isolation. Here, we test for allelic variation within Drosophila persimilis and within the Bogota subspecies of D. pseudoobscura at regions previously shown to contribute to hybrid male sterility. We also test whether D. persimilis and the USA subspecies of D. pseudoobscura share an allele conferring hybrid sterility in a D. pseudoobscura bogotana genetic background. All loci conferred similar hybrid sterility effects across all strains studied, although we detected some statistically significant quantitative effect variation among D. persimilis alleles of some hybrid incompatibility QTLs. We also detected allelism between D. persimilis and D. pseudoobscura USA at a second chromosome hybrid sterility QTL. We hypothesize that either the QTL is ancestral in D. persimilis and D. pseudoobscura USA and lost in D. pseudoobscura bogotana, or gene flow transferred the QTL from D. persimilis to D. pseudoobscura USA. We discuss our findings in the context of population features that may contribute to variation in hybrid incompatibilities., (© 2011 The Author(s). Evolution© 2011 The Society for the Study of Evolution.)
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- 2011
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178. Pesticide risk assessment: A study on inhalation and dermal exposure to 2,4-D and paraquat among Malaysian paddy farmers.
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Baharuddin MR, Sahid IB, Noor MA, Sulaiman N, and Othman F
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- Agriculture, Climate, Dermis drug effects, Dermis metabolism, Humans, Humidity, Liver drug effects, Liver enzymology, Malaysia epidemiology, Risk Assessment, Temperature, gamma-Glutamyltransferase metabolism, 2,4-Dichlorophenoxyacetic Acid toxicity, Inhalation Exposure analysis, Occupational Exposure analysis, Oryza, Paraquat toxicity, Pesticides toxicity
- Abstract
A cross-section analytical study was conducted to evaluate the risk of pesticide exposure to those applying the Class II pesticides 2,4-D and paraquat in the paddy-growing areas of Kerian, Perak, Malaysia. It investigated the influence of weather on exposure as well as documented health problems commonly related to pesticide exposure. Potential inhalation and dermal exposure for 140 paddy farmers (handlers of pesticides) were assessed. Results showed that while temperature and humidity affected exposure, windspeed had the strongest impact on pesticide exposure via inhalation. However, the degree of exposure to both herbicides via inhalation was below the permissible exposure limits set by United States National Institute of Occupational Safety and Health (NIOSH). Dermal Exposure Assessment Method (DREAM) readings showed that dermal exposure with manual spraying ranged from moderate to high. With motorized sprayers, however, the level of dermal exposure ranged from low to moderate. Dermal exposure was significantly negatively correlated with the usage of protective clothing. Various types of deleterious health effects were detected among users of manual knapsack sprayers. Long-term spraying activities were positively correlated with increasing levels of the gamma-glutamyl transpeptidase (GGT) liver enzyme. The type of spraying equipment, usage of proper protective clothing and adherence to correct spraying practices were found to be the most important factors influencing the degree of pesticide exposure among those applying pesticides.
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- 2011
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179. Effect of autohydrolysis and enzymatic treatment on oil palm (Elaeis guineensis Jacq.) frond fibres for xylose and xylooligosaccharides production.
- Author
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Sabiha-Hanim S, Noor MA, and Rosma A
- Subjects
- Chemical Fractionation, Hydrolysis, Molecular Weight, Palm Oil, Arecaceae metabolism, Biotechnology methods, Endo-1,4-beta Xylanases metabolism, Oligosaccharides biosynthesis, Plant Leaves metabolism, Plant Oils metabolism, Xylose biosynthesis
- Abstract
Oil palm (Elaeis guineensis Jacq.) is one of the most important commercial crops for the production of palm oil, which generates 10.88 tons of oil palm fronds per hectare of plantation as a by-product. In this study, oil palm frond fibres were subjected to an autohydrolysis treatment using an autoclave, operated at 121 °C for 20-80 min, to facilitate the separation of hemicelluloses. The hemicellulose-rich solution (autohydrolysate) was subjected to further hydrolysis with 4-16 U of mixed Trichoderma viride endo-(1,4)-β-xylanases (EC 3.2.1.8) per 100 mg of autohydrolysate. Autoclaving of palm fronds at 121°C for 60 min (a severity factor of 2.40) recovered 75% of the solid residue, containing 57.9% cellulose and 18% Klason lignin, and an autohydrolysate containing 14.94% hemicellulose, with a fractionation efficiency of 49.20%. Subsequent enzymatic hydrolysis of the autohydrolysate with 8 U of endoxylanase at 40 °C for 24 h produced a solution containing 17.5% xylooligosaccharides and 25.6% xylose. The results clearly indicate the potential utilization of oil palm frond, an abundantly available lignocellulosic biomass for the production of xylose and xylooligosaccharides which can serve as functional food ingredients., (Copyright © 2010 Elsevier Ltd. All rights reserved.)
- Published
- 2011
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180. Effects of inversions on within- and between-species recombination and divergence.
- Author
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Stevison LS, Hoehn KB, and Noor MA
- Subjects
- Animals, Chimera, Chromosomes, Crosses, Genetic, DNA genetics, Evolution, Molecular, Gene Frequency, Genome, Heterozygote, Models, Genetic, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Species Specificity, Chromosome Inversion genetics, Drosophila genetics, Recombination, Genetic
- Abstract
Chromosomal inversions disrupt recombination in heterozygotes by both reducing crossing-over within inverted regions and increasing it elsewhere in the genome. The reduction of recombination in inverted regions facilitates the maintenance of hybridizing species, as outlined by various models of chromosomal speciation. We present a comprehensive comparison of the effects of inversions on recombination rates and on nucleotide divergence. Within an inversion differentiating Drosophila pseudoobscura and Drosophila persimilis, we detected one double recombinant among 9,739 progeny from F(1) hybrids screened, consistent with published double-crossover frequencies observed within species. Despite similar rates of exchange within and between species, we found no sequence-based evidence of ongoing gene exchange between species within this inversion, but significant exchange was inferred within species. We also observed greater differentiation at regions near inversion breakpoints between species versus within species. Moreover, we observed strong "interchromosomal effect" (higher recombination in inversion heterozygotes between species) with up to 9-fold higher recombination rates along collinear segments of chromosome two in hybrids. Further, we observed that regions most susceptible to changes in recombination rates corresponded to regions with lower recombination rates in homokaryotypes. Finally, we showed that interspecies nucleotide divergence is lower in regions with greater increases in recombination rate, potentially resulting from greater interspecies exchange. Overall, we have identified several similarities and differences between inversions segregating within versus between species in their effects on recombination and divergence. We conclude that these differences are most likely due to lower frequency of heterokaryotypes and to fitness consequences from the accumulation of various incompatibilities between species. Additionally, we have identified possible effects of inversions on interspecies gene exchange that had not been considered previously.
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- 2011
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181. Genetics of incipient speciation in Drosophila mojavensis. III. Life-history divergence in allopatry and reproductive isolation.
- Author
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Etges WJ, De Oliveira CC, Noor MA, and Ritchie MG
- Subjects
- Animal Communication, Animals, Arizona, Biological Evolution, Drosophila physiology, Female, Genetic Variation, Genome, Insect, Genotype, Hydrocarbons chemistry, Hydrocarbons metabolism, Male, Mexico, Quantitative Trait Loci, Reproduction, Sexual Behavior, Animal, Drosophila genetics, Genetic Speciation
- Abstract
We carried out a three-tiered genetic analysis of egg-to-adult development time and viability in ancestral and derived populations of cactophilic Drosophila mojavensis to test the hypothesis that evolution of these life-history characters has shaped premating reproductive isolation in this species. First, a common garden experiment with 11 populations from Baja California and mainland Mexico and Arizona reared on two host species revealed significant host plant X region and population interactions for viability and development time, evidence for host plant adaptation. Second, replicated line crosses with flies reared on both hosts revealed autosomal, X chromosome, cytoplasmic, and autosome X cactus influences on development time. Viability differences were influenced by host plants, autosomal dominance, and X chromosomal effects. Many of the F(1) , F(2) , and backcross generations showed evidence of heterosis for viability. Third, a QTL analysis of male courtship song and epicuticular hydrocarbon variation based on 1688 Baja × mainland F(2) males also revealed eight QTL influencing development time differences. Mainland alleles at six of these loci were associated with longer development times, consistent with population-level differences. Eight G × E interactions were also detected caused by longer development times of mainland alleles expressed on a mainland host with smaller differences among Baja genotypes reared on the Baja host plant. Four QTL influenced both development time and epicuticular hydrocarbon differences associated with courtship success, and there was a significant QTL-based correlation between development time and cuticular hydrocarbon variation. Thus, the regional shifts in life histories that evolved once D. mojavensis invaded mainland Mexico from Baja California by shifting host plants were genetically correlated with variation in cuticular hydrocarbon-based mate preferences., (© 2010 The Author(s). Evolution© 2010 The Society for the Study of Evolution.)
- Published
- 2010
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182. Genetic and evolutionary correlates of fine-scale recombination rate variation in Drosophila persimilis.
- Author
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Stevison LS and Noor MA
- Subjects
- Animals, Chromosomes, Insect genetics, Codon genetics, Crossing Over, Genetic, Gene Conversion genetics, Humans, Introns genetics, Nucleotides genetics, Regression Analysis, Regulatory Sequences, Nucleic Acid genetics, Species Specificity, Drosophila genetics, Evolution, Molecular, Genetic Variation, Recombination, Genetic
- Abstract
Recombination is fundamental to meiosis in many species and generates variation on which natural selection can act, yet fine-scale linkage maps are cumbersome to construct. We generated a fine-scale map of recombination rates across two major chromosomes in Drosophila persimilis using 181 SNP markers spanning two of five major chromosome arms. Using this map, we report significant fine-scale heterogeneity of local recombination rates. However, we also observed "recombinational neighborhoods," where adjacent intervals had similar recombination rates after excluding regions near the centromere and telomere. We further found significant positive associations of fine-scale recombination rate with repetitive element abundance and a 13-bp sequence motif known to associate with human recombination rates. We noted strong crossover interference extending 5-7 Mb from the initial crossover event. Further, we observed that fine-scale recombination rates in D. persimilis are strongly correlated with those obtained from a comparable study of its sister species, D. pseudoobscura. We documented a significant relationship between recombination rates and intron nucleotide sequence diversity within species, but no relationship between recombination rate and intron divergence between species. These results are consistent with selection models (hitchhiking and background selection) rather than mutagenic recombination models for explaining the relationship of recombination with nucleotide diversity within species. Finally, we found significant correlations between recombination rate and GC content, supporting both GC-biased gene conversion (BGC) models and selection-driven codon bias models. Overall, this genome-enabled map of fine-scale recombination rates allowed us to confirm findings of broader-scale studies and identify multiple novel features that merit further investigation.
- Published
- 2010
- Full Text
- View/download PDF
183. Epistasis among Drosophila persimilis factors conferring hybrid male sterility with D. pseudoobscura bogotana.
- Author
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Chang AS, Bennett SM, and Noor MA
- Subjects
- Animals, Chromosome Mapping, Drosophila, Male, Quantitative Trait Loci, Epistasis, Genetic, Infertility, Male genetics
- Abstract
The Bateson-Dobzhansky-Muller model posits that hybrid incompatibilities result from genetic changes that accumulate during population divergence. Indeed, much effort in recent years has been devoted to identifying genes associated with hybrid incompatibilities, often with limited success, suggesting that hybrid sterility and inviability are frequently caused by complex interactions between multiple loci and not by single or a small number of gene pairs. Our previous study showed that the nature of epistasis between sterility-conferring QTL in the Drosophila persimilis-D. pseudoobscura bogotana species pair is highly specific. Here, we further dissect one of the three QTL underlying hybrid male sterility between these species and provide evidence for multiple factors within this QTL. This result indicates that the number of loci thought to contribute to hybrid dysfunction may have been underestimated, and we discuss how linkage and complex epistasis may be characteristic of the genetics of hybrid incompatibilities. We further pinpoint the location of one locus that confers hybrid male sterility when homozygous, dubbed "mule-like", to roughly 250 kilobases.
- Published
- 2010
- Full Text
- View/download PDF
184. Translocation of Y-linked genes to the dot chromosome in Drosophila pseudoobscura.
- Author
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Larracuente AM, Noor MA, and Clark AG
- Subjects
- Animals, DNA, Intergenic, Drosophila classification, Female, Introns genetics, Male, Repetitive Sequences, Nucleic Acid, DNA, Ribosomal genetics, Drosophila genetics, Genes, Insect genetics, Translocation, Genetic genetics, X Chromosome genetics, Y Chromosome genetics
- Abstract
One of the most striking cases of sex chromosome reorganization in Drosophila occurred in the lineage ancestral to Drosophila pseudoobscura, where there was a translocation of Y-linked genes to an autosome. These genes went from being present only in males, never recombining, and having an effective population size of 0.5N to a state of autosomal linkage, where they are passed through both sexes, may recombine, and their effective population size has quadrupled. These genes appear to be functional, and they underwent a drastic reduction in intron size after the translocation. A Y-autosome translocation may pose problems in meiosis if the rDNA locus responsible for X-Y pairing had also moved to an autosome. In this study, we demonstrate that the Y-autosome translocation moved Y-linked genes onto the dot chromosome, a small, mainly heterochromatic autosome with some sex chromosome-like properties. The rDNA repeats occur exclusively on the X chromosome in D. pseudoobscura, but we found that the new Y chromosome of this species harbors four clusters bearing only the intergenic spacer region (IGS) of the rDNA repeats. This arrangement appears analogous to the situation in Drosophila simulans, where X-rDNA to Y-IGS pairing could be responsible for X-Y chromosome pairing. We postulate that the nascent D. pseudoobscura Y chromosome acquired and amplified copies of the IGS, suggesting a potential mechanism for X-Y pairing in D. pseudoobscura.
- Published
- 2010
- Full Text
- View/download PDF
185. The scuttle fly.
- Author
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Varney RL and Noor MA
- Subjects
- Animals, Female, Forensic Sciences, Genome, Insect, Male, Motor Activity, Myiasis transmission, Diptera anatomy & histology, Diptera physiology, Insect Vectors
- Published
- 2010
- Full Text
- View/download PDF
186. Slip-sliding away: serial changes and homoplasy in repeat number in the Drosophila yakuba homolog of human cancer susceptibility gene BRCA2.
- Author
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Bennett SM, Mercer JM, and Noor MA
- Subjects
- Amino Acid Sequence, Animals, Humans, Molecular Sequence Data, Phylogeny, Polymerase Chain Reaction, Sequence Homology, Amino Acid, Drosophila genetics, Genes, BRCA2, Genetic Predisposition to Disease, Neoplasms genetics
- Abstract
Several recent studies have examined the function and evolution of a Drosophila homolog to the human breast cancer susceptibility gene BRCA2, named dmbrca2. We previously identified what appeared to be a recent expansion in the RAD51-binding BRC-repeat array in the ancestor of Drosophila yakuba. In this study, we examine patterns of variation and evolution of the dmbrca2 BRC-repeat array within D. yakuba and its close relatives. We develop a model of how unequal crossing over may have produced the expanded form, but we also observe short repeat forms, typical of other species in the D. melanogaster group, segregating within D. yakuba and D. santomea. These short forms do not appear to be identical-by-descent, suggesting that the history of dmbrca2 in the D. melanogaster subgroup has involved repeat unit contractions resulting in homoplasious forms. We conclude that the evolutionary history of dmbrca2 in D. yakuba and perhaps in other Drosophila species may be more complicated than can be inferred from examination of the published single genome sequences per species.
- Published
- 2010
- Full Text
- View/download PDF
187. The role of meiotic drive in hybrid male sterility.
- Author
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McDermott SR and Noor MA
- Subjects
- Animals, Female, Genes, Insect genetics, Male, Sex Chromosomes genetics, Chimera genetics, Drosophila genetics, Genetic Speciation, Infertility, Male genetics, Meiosis genetics
- Abstract
Meiotic drive causes the distortion of allelic segregation away from Mendelian expected ratios, often also reducing fecundity and favouring the evolution of drive suppressors. If different species evolve distinct drive-suppressor systems, then hybrid progeny may be sterile as a result of negative interactions of these systems' components. Although the hypothesis that meiotic drive may contribute to hybrid sterility, and thus species formation, fell out of favour early in the 1990s, recent results showing an association between drive and sterility have resurrected this previously controversial idea. Here, we review the different forms of meiotic drive and their possible roles in speciation. We discuss the recent empirical evidence for a link between drive and hybrid male sterility, also suggesting a possible mechanistic explanation for this link in the context of chromatin remodelling. Finally, we revisit the population genetics of drive that allow it to contribute to speciation.
- Published
- 2010
- Full Text
- View/download PDF
188. Genomics: Lessons in complexity from yeast.
- Author
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Goldstein DB and Noor MA
- Subjects
- Animals, Drug Resistance, Fungal drug effects, Drug Resistance, Fungal genetics, Humans, Saccharomyces cerevisiae cytology, Saccharomyces cerevisiae drug effects, Sample Size, Chromosome Mapping methods, Genetic Variation genetics, Genomics methods, Multifactorial Inheritance genetics, Saccharomyces cerevisiae genetics
- Published
- 2010
- Full Text
- View/download PDF
189. Epistasis modifies the dominance of loci causing hybrid male sterility in the Drosophila pseudoobscura species group.
- Author
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Chang AS and Noor MA
- Subjects
- Animals, Drosophila genetics, Female, Male, Quantitative Trait Loci, X Chromosome, Drosophila physiology, Epistasis, Genetic, Hybridization, Genetic, Infertility, Male genetics
- Abstract
Speciation, the evolution of reproductive isolation between populations, serves as the driving force for generating biodiversity. Postzygotic barriers to gene flow, such as F(1) hybrid sterility and inviability, play important roles in the establishment and maintenance of biological species. F(1) hybrid incompatibilities in taxa that obey Haldane's rule, the observation that the heterogametic sex suffers greater hybrid fitness problems than the homogametic sex, are thought to often result from interactions between recessive-acting X-linked loci and dominant-acting autosomal loci. Because they play such prominent roles in producing hybrid incompatibilities, we examine the dominance and nature of epistasis between alleles derived from Drosophila persimilis that confer hybrid male sterility in the genetic background of its sister species, D. pseudoobscura bogotana. We show that epistasis elevates the apparent dominance of individually recessive-acting QTL such that they can contribute to F(1) hybrid sterility. These results have important implications for assumptions underlying theoretical models of hybrid incompatibilities and may offer a possible explanation for why, to date, identification of dominant-acting autosomal "speciation genes" has been challenging.
- Published
- 2010
- Full Text
- View/download PDF
190. Islands of speciation or mirages in the desert? Examining the role of restricted recombination in maintaining species.
- Author
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Noor MA and Bennett SM
- Subjects
- Animals, Centromere genetics, Evolution, Molecular, Gene Flow, Genetic Speciation, Recombination, Genetic
- Abstract
Over the past decade, many studies documented high genetic divergence between closely related species in genomic regions experiencing restricted recombination in hybrids, such as within chromosomal rearrangements or areas adjacent to centromeres. Such regions have been called 'islands of speciation' because of their presumed role in maintaining the integrity of species despite gene flow elsewhere in the genome. Here, we review alternative explanations for such patterns. Segregation of ancestral variation or artifacts of nucleotide diversity within species can readily lead to higher F(ST) in regions of restricted recombination than other parts of the genome, even in the complete absence of interspecies gene flow, and thereby cause investigators to erroneously conclude that islands of speciation exist. We conclude by discussing strengths and weaknesses of various means for testing the role of restricted recombination in maintaining species.
- Published
- 2009
- Full Text
- View/download PDF
191. Molecular evolution of a Drosophila homolog of human BRCA2.
- Author
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Bennett SM and Noor MA
- Subjects
- Animals, Base Sequence, DNA Primers genetics, DNA Repeat Expansion genetics, Genes, BRCA2, Humans, Likelihood Functions, Models, Genetic, Molecular Sequence Data, Sequence Analysis, DNA, Species Specificity, BRCA2 Protein genetics, Drosophila genetics, Drosophila Proteins genetics, Evolution, Molecular, Genetic Variation, Phylogeny
- Abstract
The human cancer susceptibility gene, BRCA2, functions in double-strand break repair by homologous recombination, and it appears to function via interaction of a repetitive region ("BRC repeats") with RAD-51. A putatively simpler homolog, dmbrca2, was identified in Drosophila melanogaster recently and also affects mitotic and meiotic double-strand break repair. In this study, we examined patterns of repeat variation both within Drosophila pseudoobscura and among available Drosophila genome sequences. We identified extensive variation within and among closely related Drosophila species in BRC repeat number, to the extent that variation within this genus recapitulates the extent of variation found across the entire animal kingdom. We describe patterns of evolution across species by documenting recent repeat expansions (sometimes in tandem arrays) and homogenizations within available genome sequences. Overall, we have documented patterns and modes of evolution in a new model system of a gene which is important to human health.
- Published
- 2009
- Full Text
- View/download PDF
192. Large introns in relation to alternative splicing and gene evolution: a case study of Drosophila bruno-3.
- Author
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Kandul NP and Noor MA
- Subjects
- Animals, Cloning, Molecular, Exons, Genes, Insect, Open Reading Frames, RNA, Messenger genetics, Sequence Alignment, Sequence Analysis, DNA, Alternative Splicing, Drosophila genetics, Drosophila Proteins genetics, Evolution, Molecular, Introns, RNA-Binding Proteins genetics
- Abstract
Background: Alternative splicing (AS) of maturing mRNA can generate structurally and functionally distinct transcripts from the same gene. Recent bioinformatic analyses of available genome databases inferred a positive correlation between intron length and AS. To study the interplay between intron length and AS empirically and in more detail, we analyzed the diversity of alternatively spliced transcripts (ASTs) in the Drosophila RNA-binding Bruno-3 (Bru-3) gene. This gene was known to encode thirteen exons separated by introns of diverse sizes, ranging from 71 to 41,973 nucleotides in D. melanogaster. Although Bru-3's structure is expected to be conducive to AS, only two ASTs of this gene were previously described., Results: Cloning of RT-PCR products of the entire ORF from four species representing three diverged Drosophila lineages provided an evolutionary perspective, high sensitivity, and long-range contiguity of splice choices currently unattainable by high-throughput methods. Consequently, we identified three new exons, a new exon fragment and thirty-three previously unknown ASTs of Bru-3. All exon-skipping events in the gene were mapped to the exons surrounded by introns of at least 800 nucleotides, whereas exons split by introns of less than 250 nucleotides were always spliced contiguously in mRNA. Cases of exon loss and creation during Bru-3 evolution in Drosophila were also localized within large introns. Notably, we identified a true de novo exon gain: exon 8 was created along the lineage of the obscura group from intronic sequence between cryptic splice sites conserved among all Drosophila species surveyed. Exon 8 was included in mature mRNA by the species representing all the major branches of the obscura group. To our knowledge, the origin of exon 8 is the first documented case of exonization of intronic sequence outside vertebrates., Conclusion: We found that large introns can promote AS via exon-skipping and exon turnover during evolution likely due to frequent errors in their removal from maturing mRNA. Large introns could be a reservoir of genetic diversity, because they have a greater number of mutable sites than short introns. Taken together, gene structure can constrain and/or promote gene evolution.
- Published
- 2009
- Full Text
- View/download PDF
193. What can you do with 0.1x genome coverage? A case study based on a genome survey of the scuttle fly Megaselia scalaris (Phoridae).
- Author
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Rasmussen DA and Noor MA
- Subjects
- Animals, Drosophila genetics, Female, Genome, Mitochondrial, Genomics methods, Interspersed Repetitive Sequences, Male, Microsatellite Repeats, Computational Biology methods, Diptera genetics, Genome, Insect, Sequence Analysis, DNA methods
- Abstract
Background: The declining cost of DNA sequencing is making genome sequencing a feasible option for more organisms, including many of interest to ecologists and evolutionary biologists. While obtaining high-depth, completely assembled genome sequences for most non-model organisms remains challenging, low-coverage genome survey sequences (GSS) can provide a wealth of biologically useful information at low cost. Here, using a random pyrosequencing approach, we sequence the genome of the scuttle fly Megaselia scalaris and evaluate the utility of our low-coverage GSS approach., Results: Random pyrosequencing of the M. scalaris genome provided a depth of coverage (0.05x0.1x) much lower than typical GSS studies. We demonstrate that, even with extremely low-coverage sequencing, bioinformatics approaches can yield extensive information about functional and repetitive elements. We also use our GSS data to develop genomic resources such as a nearly complete mitochondrial genome sequence and microsatellite markers for M. scalaris., Conclusion: We conclude that low-coverage genome surveys are effective at generating useful information about organisms currently lacking genomic sequence data.
- Published
- 2009
- Full Text
- View/download PDF
194. The genomics of speciation in Drosophila: diversity, divergence, and introgression estimated using low-coverage genome sequencing.
- Author
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Kulathinal RJ, Stevison LS, and Noor MA
- Subjects
- Animals, Chromosome Aberrations, Drosophila chemistry, Models, Genetic, Sequence Analysis, DNA, Drosophila genetics, Evolution, Molecular, Genetic Speciation, Genetic Variation, Genome, Insect, Genomics
- Abstract
In nature, closely related species may hybridize while still retaining their distinctive identities. Chromosomal regions that experience reduced recombination in hybrids, such as within inversions, have been hypothesized to contribute to the maintenance of species integrity. Here, we examine genomic sequences from closely related fruit fly taxa of the Drosophila pseudoobscura subgroup to reconstruct their evolutionary histories and past patterns of genic exchange. Partial genomic assemblies were generated from two subspecies of Drosophila pseudoobscura (D. ps.) and an outgroup species, D. miranda. These new assemblies were compared to available assemblies of D. ps. pseudoobscura and D. persimilis, two species with overlapping ranges in western North America. Within inverted regions, nucleotide divergence among each pair of the three species is comparable, whereas divergence between D. ps. pseudoobscura and D. persimilis in non-inverted regions is much lower and closer to levels of intraspecific variation. Using molecular markers flanking each of the major chromosomal inversions, we identify strong crossover suppression in F(1) hybrids extending over 2 megabase pairs (Mbp) beyond the inversion breakpoints. These regions of crossover suppression also exhibit the high nucleotide divergence associated with inverted regions. Finally, by comparison to a geographically isolated subspecies, D. ps. bogotana, our results suggest that autosomal gene exchange between the North American species, D. ps. pseudoobscura and D. persimilis, occurred since the split of the subspecies, likely within the last 200,000 years. We conclude that chromosomal rearrangements have been vital to the ongoing persistence of these species despite recent hybridization. Our study serves as a proof-of-principle on how whole genome sequencing can be applied to formulate and test hypotheses about species formation in lesser-known non-model systems., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2009
- Full Text
- View/download PDF
195. Genetics of incipient speciation in Drosophila mojavensis: II. Host plants and mating status influence cuticular hydrocarbon QTL expression and G x E interactions.
- Author
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Etges WJ, de Oliveira CC, Ritchie MG, and Noor MA
- Subjects
- Animal Communication, Animals, Drosophila metabolism, Drosophila physiology, Female, Hydrocarbons chemistry, Male, Principal Component Analysis, Regression Analysis, Cactaceae, Drosophila genetics, Genetic Speciation, Hydrocarbons metabolism, Quantitative Trait Loci, Sexual Behavior, Animal
- Abstract
We performed a quantitative trait locus (QTL) analysis of epicuticular hydrocarbon variation in 1650 F(2) males from crosses of Baja California and mainland Mexico populations of Drosophila mojavensis cultured on two major host cacti. Principal component (PC) analysis revealed five PCs that accounted for 82% of the total epicuticular hydrocarbon variation. Courtship trials with mainland females were used to characterize hydrocarbon profiles of mated and unmated F(2) males, and logistic regression analysis showed that cactus substrates, two PCs, and a PC by cactus interaction were associated with mating success. Multiple QTLs were detected for each hydrocarbon PC and seven G x E (cactus) interactions were uncovered for the X, second, and fourth chromosomes. Males from the courtship trials and virgins were used, so "exposure to females" was included as a factor in QTL analyses. "Exposed" males expressed significantly different hydrocarbon profiles than virgins for most QTLs, particularly for the two PCs associated with mating success. Ten QTLs showed G x E (exposure) interactions with most resulting from mainland genotypes expressing altered hydrocarbon amounts when exposed to females compared to Baja genotypes. Many cactus x exposure interaction terms detected across QTL and all PCs confirmed that organ pipe-reared males expressed significantly lower hydrocarbon amounts when exposed to females than when reared on agria cactus. Epicuticular hydrocarbon variation in D. mojavensis is therefore a multigenic trait with some epistasis, multiple QTLs exhibited pleiotropy, correlated groups of hydrocarbons and cactus substrates determined courtship success, and males altered their hydrocarbon profiles in response to females.
- Published
- 2009
- Full Text
- View/download PDF
196. Sequence signatures of a recent chromosomal rearrangement in Drosophila mojavensis.
- Author
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Runcie DE and Noor MA
- Subjects
- Animals, Chromosome Breakage, Chromosome Inversion, DNA Transposable Elements, Drosophila classification, Gene Rearrangement, Genetic Variation, Genome, Insect, Models, Genetic, Drosophila genetics, X Chromosome genetics
- Abstract
The X-chromosome inversion, Xe, distinguishes Drosophila mojavensis and D. arizonae. Earlier work mapped the breakpoints of this inversion to large intervals and provided hypotheses for the locations of the breakpoints within 3000-bp intergenic regions on the D. mojavensis genome sequence assembly. Here, we sequenced these regions directly in the putatively ancestral D. arizonae X-chromosome. We find that the two inversion breakpoints are near an inverted gene duplication and a common repetitive element, respectively, and these features were likely present in the non-inverted ancestral chromosome on the D. mojavensis lineage. Contrary to an earlier hypothesis, the inverted gene duplication appears to predate the inversion. We find no sequence similarity between the breakpoint regions in the D. mojavensis ancestor, excluding an ectopic-exchange model of chromosome rearrangements. We also found no evidence that staggered single-strand breaks caused the inversion. We suggest these features may have contributed to the chromosomal breakages resulting in this inversion.
- Published
- 2009
- Full Text
- View/download PDF
197. The role of protease inhibitors in the pathogenesis of HIV-associated lipodystrophy: cellular mechanisms and clinical implications.
- Author
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Flint OP, Noor MA, Hruz PW, Hylemon PB, Yarasheski K, Kotler DP, Parker RA, and Bellamine A
- Subjects
- Adipocytes drug effects, Adipocytes metabolism, Adipose Tissue metabolism, Animals, Cells, Cultured, Dyslipidemias etiology, Dyslipidemias metabolism, Glucose metabolism, HIV Infections drug therapy, HIV Infections metabolism, HIV-Associated Lipodystrophy Syndrome metabolism, Humans, Insulin metabolism, Insulin Resistance, Insulin-Secreting Cells drug effects, Insulin-Secreting Cells metabolism, Metabolic Syndrome metabolism, Adipose Tissue drug effects, HIV Infections complications, HIV Protease Inhibitors adverse effects, HIV-Associated Lipodystrophy Syndrome etiology, Metabolic Syndrome etiology
- Abstract
Metabolic complications associated with HIV infection and treatment frequently present as a relative lack of peripheral adipose tissue associated with dyslipidemia and insulin resistance. In this review we explain the connection between abnormalities of intermediary metabolism, observed either in vitro or in vivo, and this group of metabolic effects. We review molecular mechanisms by which the HIV protease inhibitor (PI) class of drugs may affect the normal stimulatory effect of insulin on glucose and fat storage. We then propose that both chronic inflammation from HIV infection and treatment with some drugs in this class trigger cellular homeostatic stress responses with adverse effects on intermediary metabolism. The physiologic outcome is such that total adipocyte storage capacity is decreased, and the remaining adipocytes resist further fat storage. The excess circulating and dietary lipid metabolites, normally "absorbed" by adipose tissue, are deposited ectopically in lean (muscle and liver) tissue, where they impair insulin action. This process leads to a pathologic cycle of lipotoxicity and lipoatrophy and a clinical phenotype of body fat distribution with elevated waist-to-hip ratio similar to the metabolic syndrome.
- Published
- 2009
- Full Text
- View/download PDF
198. Failure to replicate two mate preference QTLs across multiple strains of Drosophila pseudoobscura.
- Author
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Barnwell CV and Noor MA
- Subjects
- Alleles, Animals, Crosses, Genetic, Drosophila classification, Genetic Variation, Genotype, Sexual Behavior, Animal, Drosophila genetics, Quantitative Trait Loci
- Abstract
Behavioral genetic mapping studies in model organisms predominantly use crosses originating from a single pair of inbred lines to determine the location of alleles that confer genetic variation in the trait of interest, and they often make sweeping generalizations about the genetic architecture of the trait based on these results. A previous study fine mapped mate preference variation between one pair of Drosophila pseudoobscura lines and identified 2 strong-effect behavioral quantitative trait loci (QTLs). Here, we replicated the previous study's mapping design to examine the extent of variation at these behavioral QTLs across 6 pairs of lines, but we were unable to detect effects of either QTL region in the pairs of lines studied. We suggest that the low-discrimination alleles at these 2 QTLs may occur at low frequency within D. pseudoobscura, although other explanations for the inconsistency are possible. These results underscore the need to examine multiple strains across a species when describing the genetic variation underlying behavioral traits.
- Published
- 2008
- Full Text
- View/download PDF
199. Mutagenesis from meiotic recombination is not a primary driver of sequence divergence between Saccharomyces species.
- Author
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Noor MA
- Subjects
- Crossing Over, Genetic, DNA Breaks, Double-Stranded, Evolution, Molecular, Saccharomyces cerevisiae genetics, Species Specificity, DNA, Fungal, Meiosis, Mutagenesis, Recombination, Genetic, Saccharomyces genetics
- Abstract
Local rates of recombination positively correlate with DNA sequence diversity in many species. To test whether this relationship stems from mutagenicity of meiotic recombination, studies often look for a similar association between local rates of recombination and sequence "divergence" between species. Because recombination is mutagenic in yeast, I evaluate this assay by testing whether noncoding DNA sequence divergence between Saccharomyces species is related to measures of meiotic double-strand DNA breaks or crossover rates derived from Saccharomyces cerevisiae. Contrary to expectation, I find that sequence divergence is either uncorrelated or negatively correlated with rates of both double-strand break and crossover. Several caveats are mentioned, but these results suggest that mutagenesis from meiotic recombination is not the primary driver of sequence divergence between Saccharomyces species. This study demonstrates that the association between interspecies nucleotide divergence and local recombination rates is not always a reliable indicator of recombination's mutagenicity.
- Published
- 2008
- Full Text
- View/download PDF
200. A reversible color polyphenism in American peppered moth (Biston betularia cognataria) caterpillars.
- Author
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Noor MA, Parnell RS, and Grant BS
- Subjects
- Animal Feed, Animals, Body Patterning, Color, Gene Frequency, Genes, Dominant, Genetics, Population, Models, Biological, Models, Genetic, Phenotype, Plant Leaves, Predatory Behavior, Lepidoptera genetics, Lepidoptera physiology, Moths genetics, Moths physiology, Pigmentation genetics, Pigmentation physiology
- Abstract
Insect body color polyphenisms enhance survival by producing crypsis in diverse backgrounds. While color polyphenisms are often indirectly induced by temperature, rearing density, or diet, insects can benefit from immediate crypsis if they evolve polyphenisms directly induced by exposure to the background color, hence immediately deriving protection from predation. Here, we examine such a directly induced color polyphenism in caterpillars of the geometrid peppered moth (Biston betularia). This larval color polyphenism is unrelated to the genetic polymorphism for melanic phenotypes in adult moths. B. betularia caterpillars are generalist feeders and develop body colors that closely match the brown or green twigs of their host plant. We expand on previous studies examining the proximal cues that stimulate color development. Under controlled rearing conditions, we manipulated diets and background reflectance, using both natural and artificial twigs, and show that visual experience has a much stronger effect than does diet in promoting precise color matching. Their induced body color was not a simple response to reflectance or light intensity but instead specifically matched the wavelength of light to which they were exposed. We also show that the potential to change color is retained until the final (sixth) larval instar. Given their broad host range, this directly induced color polyphenism likely provides the caterpillars with strong protection from bird predation.
- Published
- 2008
- Full Text
- View/download PDF
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