7 results on '"de Villena, Fernando Pardo-Manuel"'
Search Results
2. Genomic mapping of social behavior traits in a F2 cross derived from mice selectively bred for high aggression.
- Author
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Nehrenberg, Derrick L., Shiliang Wang, Buus, Ryan J., Perkins, James, de Villena, Fernando Pardo-Manuel, and Pomp, Daniel
- Subjects
GENE mapping ,INTER-male aggression ,SOCIAL interaction ,CHROMOSOMES ,HETEROZYGOSITY - Abstract
Background: Rapid response to selection was previously observed in mice selected for high levels of inter-male aggression based on number of attacks displayed in a novel social interaction test after isolation housing. Attack levels in this high aggression line (NC900) increased significantly within just four generations of selective breeding, suggesting the presence of a locus with large effect. We conducted an experiment using a small (n ≈ 100) F
2 cross between the ICR-derived, non-inbred NC900 strain and the low aggression inbred strain C57BL/6J, genotyped for 154 fully informative SNPs, to determine if a locus with large effect controls the high-aggression selection trait. A second goal was to use high density SNP genotyping (n = 549,000) in the parental strains to characterize residual patterns of heterozygosity within NC900, and evaluate regions that are identical by descent (IBD) between NC900 and C57BL/6J, to determine what impacts these may have on accuracy and resolution of quantitative trait locus (QTL) mapping in the F2 cross. Results: No evidence for a locus with major effect on aggressive behavior in mice was identified. However, several QTL with genomewide significance were mapped for aggression on chromosomes 7 and 19 and other social behavior traits on chromosomes 4, 7, 14, and 19. High density genotyping revealed that 28% of the genome is still segregating among the six NC900 females used to originate the F2 cross, and that segregating regions are present on every chromosome but are of widely different sizes. Regions of IBD between NC900 and C57BL/6J are found on every chromosome but are most prominent on chromosomes 10, 16 and X. No significant differences were found for amounts of heterozygosity or prevalence of IBD in QTL regions relative to global analysis. Conclusions: While no major gene was identified to explain the rapid selection response in the NC900 line, transgressive variation (i.e. where the allele from the C57BL/6J increased attack levels) and a significant role for dominant gene action were hallmarks of the genetic architecture for aggressive behavior uncovered in this study. The high levels of heterozygosity and the distribution of minor allele frequency observed in the NC900 population suggest that maintenance of heterozygosity may have been under selection in this line. [ABSTRACT FROM AUTHOR]- Published
- 2010
- Full Text
- View/download PDF
3. Recombination is proportional to the number of chromosome arms in mammals.
- Author
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de Villena, Fernando Pardo-Manuel and Sapienza, Carmen
- Subjects
DNA repair ,GENETIC recombination ,CHROMOSOMES ,KARYOKINESIS ,ANTIMUTAGENS ,CROSSING over (Genetics) ,ANEUPLOIDY ,PLOIDY - Abstract
This article reports that recombination contributes significantly to the processes of DNA repair, fidelity of chromosome segregation, and generation of genetic diversity in sexually reproducing organisms. Mammals show great interspecific variability of recombination rate. Because crossing-over is associated with proper distributive segregation of each bivalent at the first meiotic division, the diploid number of chromosomes establishes the minimum number of recombination events that occurs per meiosis. In the intervening years, genome-wide recombination studies have permitted the establishment of linkage maps of several mammalian species and provided important information about the process of meiotic non-disjunction, the major cause of aneuploidy.
- Published
- 2001
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4. High-Resolution Maps of Mouse Reference Populations.
- Author
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Simecek, Petr, Forejt, Jiri, Williams, Robert W., Toshihiko Shiroishi, Toyoyuki Takada, Lu Lu, Johnson, Thomas E., Bennett, Beth, Deschepper, Christian F., Scott-Boyer, Marie-Pier, de Villena, Fernando Pardo-Manuel, and Churchill, Gary A.
- Subjects
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GENE mapping , *MICE genetics , *CHROMOSOMES - Abstract
Genetic reference panels are widely used to map complex, quantitative traits in model organisms. We have generated new high-resolution genetic maps of 259 mouse inbred strains from recombinant inbred strain panels (C57BL/6J x DBA/2J, ILS/IbgTejJ x ISS/IbgTejJ, and C57BL/6J x A/J) and chromosome substitution strain panels (C57BL/6J-Chr# C57BL/6J-Chr#
, and C57BL/6JChr# ). We genotyped all samples using the Affymetrix Mouse Diversity Array with an average intermarker spacing of 4.3 kb. The new genetic maps provide increased precision in the localization of recombination breakpoints compared to the previous maps. Although the strains were presumed to be fully inbred, we found residual heterozygosity in 40% of individual mice from five of the six panels. We also identified de novo deletions and duplications, in homozygous or heterozygous state, ranging in size from 21 kb to 8.4 Mb. Almost two-thirds (46 out of 76) of these deletions overlap exons of protein coding genes and may have phenotypic consequences. Twenty-nine putative gene conversions were identified in the chromosome substitution strains. We find that gene conversions are more likely to occur in regions where the homologous chromosomes are more similar. The raw genotyping data and genetic maps of these strain panels are available at http://churchill-lab.jax.org/website/MDA. [ABSTRACT FROM AUTHOR] - Published
- 2017
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5. Structural Variation Shapes the Landscape of Recombination in Mouse.
- Author
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Morgan, Andrew P., Gatti, Daniel M., Najarian, Maya L., Keane, Thomas M., Galante, Raymond J., Pack, Allan I., Mott, Richard, Churchill, Gary A., and de Villena, Fernando Pardo-Manuel
- Subjects
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MEIOTIC drive , *SELFISH genetic elements , *CHROMOSOMES , *HUMAN genetic variation , *GENE mapping - Abstract
Meiotic recombination is an essential feature of sexual reproduction that ensures faithful segregation of chromosomes and redistributes genetic variants in populations. Multiparent populations such as the Diversity Outbred (DO) mouse stock accumulate large numbers of crossover (CO) events between founder haplotypes, and thus present a unique opportunity to study the role of genetic variation in shaping the recombination landscape. We obtained high-density genotype data from 6886 DO mice, and localized 2.2 million CO events to intervals with a median size of 28 kb. The resulting sex-averaged genetic map of the DO population is highly concordant with large-scale (order 10 Mb) features of previously reported genetic maps for mouse. To examine fine-scale (order 10 kb) patterns of recombination in the DO, we overlaid putative recombination hotspots onto our CO intervals. We found that CO intervals are enriched in hotspots compared to the genomic background. However, as many as 26% of CO intervals do not overlap any putative hotspots, suggesting that our understanding of hotspots is incomplete. We also identified coldspots encompassing 329 Mb, or 12% of observable genome, in which there is little or no recombination. In contrast to hotspots, which are a few kilobases in size, and widely scattered throughout the genome, coldspots have a median size of 2.1 Mb and are spatially clustered. Coldspots are strongly associated with copy-number variant (CNV) regions, especially multi-allelic clusters, identified from whole-genome sequencing of 228 DO mice. Genes in these regions have reduced expression, and epigenetic features of closed chromatin in male germ cells, which suggests that CNVs may repress recombination by altering chromatin structure in meiosis. Our findings demonstrate how multiparent populations, by bridging the gap between large-scale and fine-scale genetic mapping, can reveal new features of the recombination landscape. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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6. The Paternal Gene of the DDK Syndrome Maps to the Schlafen Gene Cluster on Mouse Chromosome 11.
- Author
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Bell, Timothy A., de la Casa-Esperón, Elena, Doherty, Heather E., Ideraabdullah, Folami, Kuikwon Kim, Yunfei Wang, Lange, Leslie A., Wilhemsen, Kirk, Lange, Ethan M., Sapienza, Carmen, and de Villena, Fernando Pardo-Manuel
- Subjects
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SYNDROMES , *PHENOTYPES , *MICE , *CHROMOSOMES , *GENES , *GENETICS - Abstract
The DDK syndrome is an early embryonic lethal phenotype observed in crosses between females of the DDK inbred mouse strain and many non-DDK males. Lethality results from an incompatibility between a maternal DDK factor and a non-DDK paternal gene, both of which have been mapped to the Ovum mutant (Om) locus on mouse chromosome 11. Here we define a 465-kb candidate interval for the paternal gene by recombinant progeny testing. To further refine the candidate interval we determined whether males from 17 classical and wild-derived inbred strains are interfertile with DDK females. We conclude that the incompatible paternal allele arose in the Mus musculus domesticus lineage and that incompatible strains should share a common haplotype spanning the paternal gene. We tested for association between paternal allele compatibility/incompatibility and 167 genetic variants located in the candidate interval. Two diallelic SNPs, located in the Schlafen gene cluster, are completely predictive of the polar-lethal phenotype. These SNPs also predict the compatible or incompatible status of males of five additional strains. [ABSTRACT FROM AUTHOR]
- Published
- 2006
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7. Maternal Transmission Ratio Distortion at the Mouse Om Locus Results From Meiotic Drive at the Second Meiotic Division.
- Author
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Guangming Wu, Lanping Hao, Thiming Han, Shaorong Gao, Latham, Keith E., de Villena, Fernando Pardo-Manuel, and Sapienza, Carmen
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MEIOSIS , *GENETIC polymorphisms , *GENETIC mutation , *CHROMOSOMES , *GENOTYPE-environment interaction , *GENETICS - Abstract
We have observed maternal transmission ratio distortion (TRD) in favor of DDK alleles at the Ovum mutant (Ore) locus on mouse chromosome 11 among the offspring of (C57BL/6 × DDK) F1 females and C57BL/6 males. Although significant lethality occurs in this backcross (∼50%), differences in the level of TRD found in recombinant vs. nonrecombinant chromosomes among offspring argue that TRD is due to nonrandom segregation of chromatids at the second meiotic division, i.e., true meiotic drive. We tested this hypothesis directly, by determining the centromere and Om genotypes of individual chromatids in zygote stage embryos. We found similar levels of TRD in favor of DDK alleles at Om in the female pronucleus and TRD in favor of C57BL/6 alleles at Om in the second polar body. In those embryos for which complete dyads have been reconstructed, TRD was present only in those inheriting heteromorphic dyads. These results demonstrate that meiotic drive occurs at MII and that preferential death of one genotypic class of embryo does not play a large role in the TRD. [ABSTRACT FROM AUTHOR]
- Published
- 2005
- Full Text
- View/download PDF
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