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Next-generation sequencing technology has facilitated the discovery of millions of genetic variants in human genomes. A sizeable fraction of these variants are predicted to be deleterious. Here, we review the pattern of deleterious alleles as ascertained in genome sequencing data sets and ask whether human populations differ in their predicted burden of deleterious alleles - a phenomenon known as mutation load. We discuss three demographic models that are predicted to affect mutation load and relate these models to the evidence (or the lack thereof) for variation in the efficacy of purifying selection in diverse human genomes. We also emphasize why accurate estimation of mutation load depends on assumptions regarding the distribution of dominance and selection coefficients - quantities that remain poorly characterized for current genomic data sets.

Previously, we demonstrated that Pseudomonas aeruginosa ExoT induces potent apoptosis in host epithelial cells in a manner that primarily depends on its ADP-ribosyltransferase domain (ADPRT) activity. However, the mechanism underlying ExoT/ADPRT-induced apoptosis remains undetermined. We now report that ExoT/ADPRT disrupts focal adhesion sites, activates p38β and JNK, and interferes with integrin-mediated survival signaling; causing atypical anoikis. We show that ExoT/ADPRT-induced anoikis is mediated by the Crk adaptor protein. We found that Crk-/- knockout cells are significantly more resistant to ExoT-induced apoptosis, while Crk-/- cells complemented with Crk are rendered sensitive to ExoT-induced apoptosis. Moreover, a dominant negative (DN) mutant form of Crk phenocopies ExoT-induced apoptosis both kinetically and mechanistically. Crk is generally believed to be a component of focal adhesion (FA) and its role in cellular survival remains controversial in that it has been found to be either pro-survival or pro-apoptosis. Our data demonstrate that although Crk is recruited to FA sites, its function is likely not required for FA assembly or for survival per se. However, when modified by ExoT or by mutagenesis, it can be transformed into a cytotoxin that induces anoikis by disrupting FA sites and interfering with integrin survival signaling. To our knowledge, this is the first example whereby a bacterial toxin exerts its cytotoxicity by subverting the function of an innocuous host cellular protein and turning it against the host cell.

Gestational vitamin A (retinol) deficiency poses a risk for ocular birth defects and blindness. We identified missense mutations in RBP4, encoding serum retinol binding protein, in three families with eye malformations of differing severity, including bilateral anophthalmia. The mutant phenotypes exhibit dominant inheritance, but incomplete penetrance. Maternal transmission significantly increases the probability of phenotypic expression. RBP normally delivers retinol from hepatic stores to peripheral tissues, including the placenta and fetal eye. The disease mutations greatly reduce retinol binding to RBP, yet paradoxically increase the affinity of RBP for its cell surface receptor, STRA6. By occupying STRA6 nonproductively, the dominant-negative proteins disrupt vitamin A delivery from wild-type proteins within the fetus, but also, in the case of maternal transmission, at the placenta. These findings establish a previously uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA, and define a group of hereditary disorders plausibly modulated by dietary vitamin A.

Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to estimate the frequency of such incidental findings in patients of European and African ancestry, we classified potentially actionable pathogenic single-nucleotide variants (SNVs) in all 4300 European- and 2203 African-ancestry participants sequenced by the NHLBI Exome Sequencing Project (ESP). We considered 112 gene-disease pairs selected by an expert panel as associated with medically actionable genetic disorders that may be undiagnosed in adults. The resulting classifications were compared to classifications from other clinical and research genetic testing laboratories, as well as with in silico pathogenicity scores. Among European-ancestry participants, 30 of 4300 (0.7%) had a pathogenic SNV and six (0.1%) had a disruptive variant that was expected to be pathogenic, whereas 52 (1.2%) had likely pathogenic SNVs. For African-ancestry participants, six of 2203 (0.3%) had a pathogenic SNV and six (0.3%) had an expected pathogenic disruptive variant, whereas 13 (0.6%) had likely pathogenic SNVs. Genomic Evolutionary Rate Profiling mammalian conservation score and the Combined Annotation Dependent Depletion summary score of conservation, substitution, regulation, and other evidence were compared across pathogenicity assignments and appear to have utility in variant classification. This work provides a refined estimate of the burden of adult onset, medically actionable incidental findings expected from exome sequencing, highlights challenges in variant classification, and demonstrates the need for a better curated variant interpretation knowledge base.

Transcriptome analysis has been used to investigate many economically traits in chickens; however, alternative splicing still lacks a systematic method of study that is able to promote proteome diversity, and fine-tune expression dynamics. Hybridization has been widely utilized in chicken breeding due to the resulting heterosis, but the dynamic changes in alternative splicing during this process are significant yet unclear. In this study, we performed a reciprocal crossing experiment involving the White Leghorn and Cornish Game chicken breeds which exhibit major differences in body size and reproductive traits, and conducted RNA sequencing of the brain, muscle, and liver tissues to identify the inheritance patterns. A total of 40 515 and 42 612 events were respectively detected in the brain and muscle tissues, with 39 843 observed in the liver; 2807, 4242, and 4538 events significantly different between two breeds were identified in the brain, muscle, and liver tissues, respectively. The hierarchical cluster of tissues from different tissues from all crosses, based on the alternative splicing profiles, suggests high tissue and strain specificity. Furthermore, a comparison between parental strains and hybrid crosses indicated that over one third of alternative splicing genes showed conserved patterns in all three tissues, while the second prevalent pattern was non-additive, which included both dominant and transgressive patterns; this meant that the dominant pattern plays a more important role than suppression. Our study provides an overview of the inheritance patterns of alternative splicing in layer and broiler chickens, to better understand post-transcriptional regulation during hybridization.

Context: Ice hockey athletes frequently injure the hip complex via a noncontact mechanism. The authors investigated patterns of strength and range of motion (ROM) to establish major differences compared with soccer athletes. Soccer athletes were compared with ice hockey athletes due to similarities between the 2 sports with regard to the intermittent nature and high number of lower-limb injuries. Objective: To compare the differences in ROM and strength of the hip for both the dominant (Dom) and nondominant (Ndom) limbs in ice hockey and soccer athletes. Design: Case-control study. Setting: Bilateral ROM in hip flexion in sitting (FS) and lying (FL), extension, abduction, adduction, and internal rotation (IR) and external rotation (ER) were measured using a goniometer and assessed for strength using a handheld dynamometer on both the Dom and Ndom limbs. Participants: 24 male, active, uninjured NCAA Division III ice hockey (16) and soccer (8) athletes. Main Outcome Measures: ROM and strength for hip FS, FL, extension, abduction, adduction, IR, and ER. A mixed-model ANOVA was used to investigate interactions and main effects. Results: Ice hockey athletes exhibited greater hip-adduction ROM than soccer athletes in the Dom leg (both P = .002) and when both limbs were combined (P= .010). Ice hockey athletes had less ROM inER (P - .042) than soccer athletes. Ice hockey athletes displayed less strength in adduction in their Ndom leg than in their Dom leg (P - .02), along with less adduction than soccer players in their Ndom leg (P = .40). Ice hockey athletes displayed less strength in hip adduction (P = .030), FS (P - .023) and FL (P = .030) than soccer athletes. Conclusions: The findings suggest that ice hockey athletes may present an at-risk profile for noncontact hip injuries in comparison with soccer athletes with regard to strength and ROM of the hip. [ABSTRACT FROM AUTHOR]

Objective: To establish the normative ultrasound values of tendons of rotator cuff muscles in local healthy male population. Study Design: Cross sectional study. Place and Duration of Study: Department of Radiology, Combined Military Hospital Malir, from Oct 2019 to Mar 2020. Methodology: The sample of study was 456 shoulders of 228 patients. All the patients went under ultrasound shoulder in standard positions. Data were analyzed with statistical analysis program Statistical Package for the Social Sciences version 23. Results: In right dominance the mean thickness of the supraspinatus, infraspinatus, subscapularis and biceps tendons were tendon 4.63 ± 0.45 mm, 3.90 ± 0.73 mm, 4.55 ± 0.74 mm and 3.55 ± 0.54 mm respectively. The acromio-humeral interval was 12.63 ± 2.005 mm. In left dominance the mean thickness of the supraspinatus, infraspinatus, subscapularis and biceps tendons were 4.88 ± 0.69 mm, 4.17 ± 0.63 mm, 5.04 ± 0.26 mm and 3.62 ± 0.45 mm respectively. The acromio-humeral interval was 13.65 ± 2.98mm. Conclusion: The study showed that there was insignificant difference between the dominant and non-dominant shoulders. [ABSTRACT FROM AUTHOR]

The article presents a geobotanical characterization and floristic analysis of a promising association of medicinal plants Salvia aethiopis L from the right bank of the Kapshagai-Bakanas highway towards the Almaty region, from an altitude of 709 m above sea level, an open steppe zone of a herbaceous community. The results of the study showed that the life forms of the floristic composition of the region, which defined the first population, dominated by therophytes, i.e. one-or two-year plants, 32 species (46%), in second place hemicryptophytes, i.e., perennial plants are 28 species (41%), chamaephytes, i.e. bushes and shrubs – types of 8 (12%), and macrophanerophytes met only 1 species (Ulmus pinnato-ramosa Dieck.). From the zone of the second coenopopulation (CP 2), the plant Tulipa kolpakovskiana Regel, listed in the Red Book, fell. The identified CP 1, CP 2, and CP 3 were carried out on the right bank of the Kapshagai-Bakanas highway. In the sample field under study, Salvia aethiopis L. 215 individuals of the plant were identified, 55 individuals were identified in the first coenopopulation, 42 individuals in the second coenopopulation, and 33 individuals in the third coenopopulation. In the first coenopopulation, the number of young generative plants increased, in the second and third coenopopulations, a group of young vegetative plants was formed, and generative plants were rarely found, and in the second coenopopulation, senile individuals of the postgenerative period prevailed. [ABSTRACT FROM AUTHOR]

This study investigated the relationship between the length of the tracheids, the width of annual rings, and the wood density of Scots pine (Pinus sylvestris L.) obtained from the dominant, intermediate, and suppressed classes of a 60-year-old stand. Measurement of tracheid length was performed on the material macerated from the following annual rings: 3, 6, 9, 12, 15, and thence every 5 annual rings. Basic density was determined on samples that included five annual rings from the core to bark. Tree position in the stand had a significant impact on the examined properties of wood. In a given biosocial class, tracheid length decreased as the width of annual rings increased. As the biosocial position of a tree in the stand improved, the length of the tracheids increased, and wood density decreased. In wood of the same density range, the increment in tracheid length was the greatest in wood of dominant trees and the lowest in wood of suppressed trees. [ABSTRACT FROM AUTHOR]

[Objective] Bacterial Blight disease is one of the main diseases of rice, which often causes severe rice yield reduction. Using the resistance of host to bacterial blight disease can not only improve rice yield, but also reduce the environmental pollution caused by the massive application of pesticides. The results showed that Xa23 has good resistance to bacterial blight disease and has been successfully used in rice breeding for bacterial blight resistance. The developed Xa23 molecular markers are located on the lateral side of the gene. In order to improve the accuracy of molecular markers and simplify the process of marker-assisted selection, we intend to develop a molecular marker located in the Xa23 gene to facilitate the rice breeding for better bacterial blight resistance. [Method] There were sequence differences and deletion in Xa23 promoter region between Bacterial Blight resistant rice CBB23 and susceptible rice JG30,Nipponbare, MDJ8,etc.The differential sequence was confirmed to exist in chuanhui907, Chuanhanghui908, Chuanhui991, and Chuanhui992 by sequencing. Primers were designed to develop molecular markers based on the differential sequences. The primers could amplify specific PCR products using the DNA of Xa23 gene donor CBB23 as template, but could not amplify specific PCR products from others. This molecular marker was used to identify Xa23 genotypes of some important rice germplasm. [Result] In the study, we developed a molecular marker located in the promoter region of Xa23 gene, which was dominant and could amplify specific 198 bp PCR product when using positive or heterozygous reference DNA as template, while there was no corresponding PCR product in negative. The Xa23 genotypes of 354 important rice germplasm from different rice regions was identified by using this marker. It was found that 5 rice germplasm, including HuahangG528, R418, R419, R433 and R440, contained the Xa23 gene, but others did not contain.[Conclusion] In this study, a molecular marker located in Xa23 gene was developed, which not only improved the accuracy of molecular marker-assisted breeding, but also improved the detection efficiency by simplifying the detection steps. The development of this marker can provide technical reference for the efficient utilization of Xa23. [ABSTRACT FROM AUTHOR]

Background: Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal-dominant ataxia (SCA48) so far largely relies on segregation data in larger families. Presenting the first de novo occurrence of a heterozygous STUB1 variant, we here present additional qualitative evidence for STUB1-disease as an autosomal-dominant disorder. Methods: Whole exome sequencing on an index patient with sporadic early-onset ataxia, followed by Sanger sequencing in all family members, was used to identify causative variants as well as to rule out alternative genetic hits and intronic STUB1 variants. STUB1 mRNA and protein levels in PBMCs in all family members were analysed using qRT-PCR and Western Blot. Results: A previously unreported start-lost loss-of-function variant c.3G>A in the start codon of STUB1 was identified in the index case, occurring de novo and without evidence for a second (potentially missed) variant (e.g., intronic or copy number) in STUB1. The patient showed an early adult-onset multisystemic ataxia complicated by spastic gait disorder, distal myoclonus and cognitive dysfunction, thus closely mirroring the systems affected in autosomal-recessive STUB1-associated disease. In line with the predicted start-lost effect of the variant, functional investigations demonstrated markedly reduced STUB1 protein expression in PBMCs, whereas mRNA levels were intact. Conclusion: De novo occurrence of the loss-of-function STUB1 variant in our case with multisystemic ataxia provides a qualitatively additional line of evidence for STUB1-disease as an autosomal-dominant disorder, in which the same neurological systems are affected as in its autosomal-recessive counterpart. Moreover, this finding adds support for loss-of-function as a mechanism underlying autosomal-dominant STUB1-disease, thus mirroring its autosomal-recessive counterpart also in terms of the underlying mutational mechanism. [ABSTRACT FROM AUTHOR]

Males of many species display conspicuous colors to attract mates and deter rivals, although this benefit can incur an increased predation risk. In the African cichlid fish, Astatotilapia burtoni, males can change both their social status (dominant, DOM, or subordinate, SUB) and primary body color (yellow or blue). We hypothesized that these phenotypes vary in conspicuousness to predators and conspecifics, thus establishing a trade-off between intraspecific signaling and predation. We quantified the spectral reflectance of yellow and blue DOM and SUB males. We then constructed avian and conspecific visual receiver models to determine the relative conspicuousness of each phenotype. We show that there are significant differences in conspicuousness to predators and conspecifics, with the flanks of the yellow DOM males exhibiting more spectral contrast to both avian predators and conspecifics than the flanks of blue DOM males. Our measurements of escape behavior revealed that each morph exhibits distinct anti-predatory responses, with SUB males shoaling for protection, and the more conspicuous yellow DOM males executing more escape responses, potentially compensating for their increased conspicuousness. Our results suggest a novel mechanism for the maintenance of alternative male phenotypes in this species, where dynamically enhanced conspicuousness is offset by plastic changes in behavior. [ABSTRACT FROM AUTHOR]

Max-plus algebra is a set ℝmax = ∪ ℝ {ϵ}, with ℝ is the set of all real numbers and e = -∞ equipped with ⊕ (maximum) and ⊗ (plus) operation. Another algebra that can be learned is the min-plus algebra. Min-plus algebra is a set ℝmin = ℝ ∪ {ϵ′}, with ℝ is the set of all real number and ϵ = +∞ equipped with ⊕′ (minimum) and ⊗ (plus) operation. Any square matrices over max-plus algebra can be related to the determinant. The determinant term of max-plus algebra is represented by the permanent and dominant. This study will discuss the determinant of a matrix over min-plus algebra. [ABSTRACT FROM AUTHOR]

Conserving life‐history variation is a stated goal of many management programs, but the most effective means by which to accomplish this are often far from clear. Early‐ and late‐migrating forms of Chinook salmon (Oncorhynchus tshawytscha) face unequal pressure from natural and anthropogenic forces that may alter the impacts of genetic variation underlying heritable migration timing. Genomic regions of chromosome 28 are known to be strongly associated with migration variation in adult Chinook salmon, but it remains unclear whether there is consistent association among diverse lineages and populations in large basins such as the Columbia River. With high‐throughput genotyping (GT‐seq) and phenotyping methods, we examined the association of genetic variation in 28 markers (spanning GREB1L to ROCK1 of chromosome 28) with individual adult migration timing characteristics gleaned from passive integrated transponder recordings of over 5000 Chinook salmon from the three major phylogeographic lineages that inhabit the Columbia River Basin. Despite the strong genetic differences among them in putatively neutral genomic regions, each of the three lineages exhibited very similar genetic variants in the chromosome 28 region that were significantly associated with adult migration timing phenotypes. This is particularly notable for the interior stream‐type lineage, which exhibits an earlier and more constrained freshwater entry than the other lineages. In both interior stream‐type and interior ocean‐type lineages of Chinook salmon, heterozygotes of the most strongly associated linkage groups had largely intermediate migration timing relative to homozygotes, and results indicate codominance or possibly marginal partial dominance of the allele associated with early migration. Our results lend support to utilization of chromosome 28 variation in tracking and predicting run timing in these lineages of Chinook salmon in the Columbia River. [ABSTRACT FROM AUTHOR]

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HIV can enter a state of latency that allows it to persist for decades in antiretroviral drug-treated patients. In a recent Nature paper, Deng et al. (2015) show that this latent reservoir also contains a large number of cytotoxic T lymphocyte escape mutants, presenting another challenge to HIV cure efforts.

The mechanisms regulating cell division during development of the mouse pre-implantation embryo are poorly understood. We have investigated whether bone morphogenetic protein (BMP) signaling is involved in controlling cell cycle during mouse pre-implantation development. We mapped and quantitated the dynamic activities of BMP signaling through high-resolution immunofluorescence imaging combined with a 3D segmentation method. Immunostaining for phosphorylated Smad1/5/8 shows that BMP signaling is activated in mouse embryos as early as the 4-cell stage, and becomes spatially restricted by late blastocyst stage. Perturbation of BMP signaling in preimplantation mouse embryos, whether by treatment with a small molecule inhibitor, with Noggin protein, or by overexpression of a dominant-negative BMP receptor, indicates that BMPs regulate cell cleavage up to the morula stage. These results indicate that BMP signaling is active during mouse pre-implantation development and is required for cell cleavage in preimplantation mouse embryos.

Introduction: Side dominance decides the involvement of bodies’ side during activities of daily living therefore each side of the body undergoes different amounts of stress and load which leads to varying degenerative changes. When diagnosing musculoskeletal problems and tracking prognosis, Range of Motion (ROM) assessments are frequently used. Therefore, ROM is a helpful clinical indicator of tailored treatment plans. Current rehabilitation literature suggests to goal for equal ROM at the effected joint as contralateral side which may differs greatly based on the dominance of the extremity. Aim: The study aims to assess the effects of side dominance on ROM at different joints of the body in adults. Materials and Methods: The study commenced by exploring the databases including PubMed/ Medline, Google Scholar and Scopus to uncover full text publications authored in English. A total of 38 articles were retrieved after extensive data search, which were evaluated and only 5 articles met the inclusion criteria and were reviewed. Adult Males and Females (18-59 years) were included. Results: It was found out that there is significant difference between ROM measurements of dominant and non-dominant sides of the body. Conclusion: ROM measurements of dominant and non-dominant sides is found different which should be considered while planning rehabilitation goals. Implication: The findings may be administered in assessing difference in ROM in dominant and non-dominant sides of body. [ABSTRACT FROM AUTHOR]

In the present article, we determine some subordination and superordination results involving Wanas operator for certain normalized analytic functions defined in the unit disk U. These results are applied to establish sandwich results. Our results extend corresponding previously known results.

Retinoic acid receptor gamma 2 (RARγ2) is the major RAR isoform expressed throughout the caudal axial progenitor domain in vertebrates. During a microarray screen to identify RAR targets, we identified a subset of genes that pattern caudal structures or promote axial elongation and are upregulated by increased RAR-mediated repression. Previous studies have suggested that RAR is present in the caudal domain, but is quiescent until its activation in late stage embryos terminates axial elongation. By contrast, we show here that RARγ2 is engaged in all stages of axial elongation, not solely as a terminator of axial growth. In the absence of RA, RARγ2 represses transcriptional activity in vivo and maintains the pool of caudal progenitor cells and presomitic mesoderm. In the presence of RA, RARγ2 serves as an activator, facilitating somite differentiation. Treatment with an RARγ-selective inverse agonist (NRX205099) or overexpression of dominant-negative RARγ increases the expression of posterior Hox genes and that of marker genes for presomitic mesoderm and the chordoneural hinge. Conversely, when RAR-mediated repression is reduced by overexpressing a dominant-negative co-repressor (c-SMRT), a constitutively active RAR (VP16-RARγ2), or by treatment with an RARγ-selective agonist (NRX204647), expression of caudal genes is diminished and extension of the body axis is prematurely terminated. Hence, gene repression mediated by the unliganded RARγ2-co-repressor complex constitutes a novel mechanism to regulate and facilitate the correct expression levels and spatial restriction of key genes that maintain the caudal progenitor pool during axial elongation in Xenopus embryos.

Abstract Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant non-syndromic hearing loss (ADNSHL) in a German family. The study presented the only, so far known, PTPRQ pathogenic variant (c.6881G>A) in ADNSHL. It is located in the last PTPRQ coding exon and introduces a premature stop codon (p.Trp2294*). Methods A five-generation Polish family with ADNSHL was recruited for the study (n = 14). Thorough audiological, neurotological and imaging studies were carried out to precisely define the phenotype. Genomic DNA was isolated from peripheral blood samples or buccal swabs of available family members. Clinical exome sequencing was conducted for the proband. Family segregation analysis of the identified variants was performed using Sanger sequencing. Single nucleotide polymorphism array on DNA samples from the Polish and the original German family was used for genome-wide linkage analysis. Results Combining clinical exome sequencing and family segregation analysis, we have identified the same (NM_001145026.2:c.6881G>A, NP_001138498.1:p.Trp2294*) PTPRQ alteration in the Polish ADNSHL family. Using genome-wide linkage analysis, we found that the studied family and the original German family derive from a common ancestor. Deep phenotyping of the affected individuals showed that in contrast to the recessive form, the PTPRQ-related ADNSHL is not associated with vestibular dysfunction. In both families ADNSHL was progressive, affected mainly high frequencies and had a variable age of onset. Conclusion Our data provide the first confirmation of PTPRQ involvement in ADNSHL. The finding strongly reinforces the inclusion of PTPRQ to the small set of genes leading to both autosomal recessive and dominant hearing loss.

Abstract Objective To assess if the right hand, the dominant hand, or the hand with more clinically swollen joints (SwJ) is per se the most inflamed and exhibits the greatest change during treatment and hence preferred for unilateral scoring of synovitis by ultrasound in rheumatoid arthritis (RA) patients. Methods Using data from two previously published Norwegian RA patient cohorts initiating treatment, bilateral metacarpophalangeal joint 1–5, proximal phalangeal joint 2+3, and wrists were evaluated by ultrasound. Using a 0–3 scoring system a grey-scale (GS), power Doppler (PD) and global synovitis score (GLOESS) was calculated for each hand (0–30). For precision, a difference of

Jilin Tan,1,2 Yan Qin,2 Changpeng Wang,2 Shiman Yuan,2 Jian Ye11Department of Ophthalmology, Army Medical Center of PLA, Daping Hospital, Army Medical University, Chongqing 400042, People’s Republic of China; 2Cataract Department, Chongqing Aier Mega Eye Hospital, Chongqing 400060, People’s Republic of ChinaPurpose: To evaluate the visual quality and performance of TECNIS Symfony intraocular lenses (IOLs) implanted with or without micro-monovision approach.Setting: Chongqing Aier Mega Eye Hospital, Chongqing, China; Daping Hospital of Army Medical University, Chongqing, China.Design: Prospective study.Methods: The study comprised 70 cataract patients who had bilateral implantation of TECNIS Symfony extended range of vision IOLs, either with intended micro-monovision (monovision group: 35 patients) or with intended emmetropia (control group: 35 patients). Visual acuity, modulation transfer function (MTF), defocus curve, spectacle independence, and photic phenomena were analyzed 3 months postoperatively.Results: There was no significant difference between the two groups in binocular uncorrected visual acuity at distance. Mean binocular uncorrected visual acuity at intermediate (monovision: 0.81 dec; control: 0.58 dec) and near (monovision: 0.59 dec; control: 0.30 dec) were significantly better in the monovision group. In the monovision group, the difference of MTF values between the dominant and the non-dominant eyes was not statistically significant and MTF values were within the normal range for both eyes. Spectacle independence at intermediate and near was statistically significantly higher in the monovision group compared to the control group. The incidence of photic phenomena was similar in both groups.Conclusion: Micro-monovision implantation of TECNIS Symfony IOLs provided a superior range of visual acuity from far to near and higher spectacle independence compared to a control group targeted for emmetropia.Keywords: cataract, extended range of vision, defocus curve, spectacle independence, emmetropia, photic phenomena

The study considers the dominant principle of sense formation in the process of reality perception and conceptualization including the quantitative aspect of being. The individually significant structures of knowledge, i.e. the dominants of the individual’s linguistic consciousness, determine and direct the process of language interpretation. The novelty of the study is seen in the attempt to model the principles of linguistic consciousness in understanding the quantitative properties and relationships. The relevance of the study is determined by the chosen cognitive approach involving the correlation between different mental structures, formats of knowledge and their language representation. The analysis of the empiric material, including the data of English, French, Russian languages, reveals not only the standards of interpretation, i.e. markers of the dominant zones of individual’s linguistic consciousness “exposing” different priority areas, but also identifies cognitive and linguistic mechanisms of meaning configuration. The repertoire of the dominant linguistic consciousness seems to be unique for each individual, because the formation, presence and the degree of certain knowledge structures ‘prominence’ are conditioned by the individual cognitive experience which depends on many factors. The application of the dominant principle allows demonstrating the variability of the cognitive content formatting, the level of linguistic personality development and, as a consequence, the degree of a person’s linguistic creativity.

Many neuromuscular disorders are caused by dominant missense mutations that lead to dominant-negative or gain-of-function pathology. This category of disease is challenging to address via drug treatment or gene augmentation therapy because these strategies may not eliminate the effects of the mutant protein or RNA. Thus, effective treatments are severely lacking for these dominant diseases, which often cause severe disability or death. The targeted inactivation of dominant disease alleles by gene editing is a promising approach with the potential to completely remove the cause of pathology with a single treatment. Here, we demonstrate that allele-specific CRISPR gene editing in a human model of axonal Charcot-Marie-Tooth (CMT) disease rescues pathology caused by a dominant missense mutation in the neurofilament light chain gene (NEFL, CMT type 2E). We utilized a rapid and efficient method for generating spinal motor neurons from human induced pluripotent stem cells (iPSCs) derived from a patient with CMT2E. Diseased motor neurons recapitulated known pathologic phenotypes at early time points of differentiation, including aberrant accumulation of neurofilament light chain protein in neuronal cell bodies. We selectively inactivated the disease NEFL allele in patient iPSCs using Cas9 enzymes to introduce a frameshift at the pathogenic N98S mutation. Motor neurons carrying this allele-specific frameshift demonstrated an amelioration of the disease phenotype comparable to that seen in an isogenic control with precise correction of the mutation. Our results validate allele-specific gene editing as a therapeutic approach for CMT2E and as a promising strategy to silence dominant mutations in any gene for which heterozygous loss-of-function is well tolerated. This highlights the potential for gene editing as a therapy for currently untreatable dominant neurologic diseases.

This investigation aimed to determine the relatedness of dominant occurring soil Streptomyces spp. in Northern Jordan based on their RAPD-PCR fingerprints, and to compare RAPD technique with the conventional phenotypic characterization of Streptomyces isolates. Fifty-eight white and gray color-bearing aerial mycelia antibiotic active-producing Streptomyces soil isolates along with three reference strains were genetically analyzed by RAPD-PCR. Polymorphisms between the isolates showed 1 to 10 bands per isolate and ranged from 200 to 3200 bp in size. Results revealed one common band of ~600 bp shared by ~85% of the isolates, and the observation of bands specific to some reference strains and some soil isolates. When RAPD patterns were analyzed with the UPGMA, results revealed clustering the tested isolates into two equal main super clusters (50% each). Super cluster I appeared to be homogenous and include the three reference strains. However, super cluster II was heterogeneous and but not including any of the reference strains. The association of the antibiotic activity of the dominant white and gray aerial mycelium-bearing Streptomyces isolates to RAPD clustering is reported for the first time, and the RAPD-PCR fingerprints generated here deserve to be cloned, characterized and sequenced in future as Streptomyces species-specific DNA markers. The more random primers used in the analysis may add to RAPD technique a cost-effective, fast, precise result, and less labor work solution for analyzing the similarities and differences among the Streptomyces isolates. [ABSTRACT FROM AUTHOR]

In this present paper, we obtain some differential subordination and superordination results, by using generalized operators for certain subclass of analytic functions in the open unit disk. Also, we derive some sandwich results. [ABSTRACT FROM AUTHOR]

The Article Provides Information On The Leading Classes, Order, Families, Genera, And Species Identified In The Soil Algoflora Of The Northern Fergana Valley. The Distribution Of The Species At The Observation Points Of The Eastern And Western Parts Was Explained By The Fact That The Species Is Constantly Changing As A Result Of The Influence Of Environmental Factors. Species Belonging To The Divisions Cyanophyta, Xanthophyta, Bacillariophyta And Chlorophyta Have Been Systematically Analyzed And Scientifically Based On The Seasons. [ABSTRACT FROM AUTHOR]

A steady influx of a single deleterious multilocus genotype will impose genetic load on the resident population and leave multiple descendants carrying various numbers of the foreign alleles. Provided that the foreign types are rare at equilibrium, and all immigrant genes are eventually eliminated by selection, the population structure can be inferred explicitly from the branching process taking place within a single immigrant lineage. Unless the migration and recombination rates were high, this novel method gives a close approximation to the simulation with all possible multilocus genotypes considered. Once the load and the foreign genotypes frequencies are known, it becomes possible to estimate selection acting on the invading modifiers of (i) dominance and (ii) recombination rate on the foreign gene block. We found that the modifiers of the (i) type are able to invade faster than the type (ii) modifier, however, this result only applies in the strong selection/low migration/low recombination scenario. Varying the number of genes in the immigrant genotype can have a non-monotonic effect on the migration load and the modifier's invasion rate: although blocks carrying more genes can give rise to longer lineages, they also experience stronger selection pressure. The heaviest load is therefore imposed by the genotypes carrying moderate numbers of genes.

Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to the Wolfram gene (WFS1). By sequencing the coding regions and intron-exon boundaries of WFS1, we identified a DNA substitution (c.1385A-to-G) in exon 8, causing a missense mutation at codon 462 (E462G) of the Wolframin protein. This is the first report of a mutation in this gene causing an isolated nuclear congenital cataract. These findings suggest that the membrane trafficking protein Wolframin may be important for supporting the developing lens.

Major imaging biomarkers of Alzheimer's disease include amyloid deposition [imaged with [(11)C]Pittsburgh compound B (PiB) PET], altered glucose metabolism (imaged with [(18)F]fluro-deoxyglucose PET), and structural atrophy (imaged by MRI). Recently we published the initial subset of imaging findings for specific regions in a cohort of individuals with autosomal dominant Alzheimer's disease. We now extend this work to include a larger cohort, whole-brain analyses integrating all three imaging modalities, and longitudinal data to examine regional differences in imaging biomarker dynamics. The anatomical distribution of imaging biomarkers is described in relation to estimated years from symptom onset. Autosomal dominant Alzheimer's disease mutation carrier individuals have elevated PiB levels in nearly every cortical region 15 y before the estimated age of onset. Reduced cortical glucose metabolism and cortical thinning in the medial and lateral parietal lobe appeared 10 and 5 y, respectively, before estimated age of onset. Importantly, however, a divergent pattern was observed subcortically. All subcortical gray-matter regions exhibited elevated PiB uptake, but despite this, only the hippocampus showed reduced glucose metabolism. Similarly, atrophy was not observed in the caudate and pallidum despite marked amyloid accumulation. Finally, before hypometabolism, a hypermetabolic phase was identified for some cortical regions, including the precuneus and posterior cingulate. Additional analyses of individuals in which longitudinal data were available suggested that an accelerated appearance of volumetric declines approximately coincides with the onset of the symptomatic phase of the disease.

Assumptions regarding the true underlying genetic model, or mode of inheritance, are necessary when quantifying genetic associations with disease phenotypes. Here we propose new methods to ascertain the underlying genetic model from parental data in family-based association studies. Specifically, for parental mating-type data, we propose a novel statistic to test whether the underlying genetic model is additive, dominant, or recessive; for parental genotype-phenotype data, we propose three strategies to determine the true mode of inheritance. We illustrate how to incorporate the information gleaned from these strategies into family-based association tests. Because family-based association tests are conducted conditional on parental genotypes, the type I error rate of these procedures is not inflated by the information learned from parental data. This result holds even if such information is weak or when the assumption of Hardy-Weinberg equilibrium is violated. Our simulations demonstrate that incorporating parental data into family-based association tests can improve power under common inheritance models. The application of our proposed methods to a candidate-gene study of type 1 diabetes successfully detects a recessive effect in MGAT5 that would otherwise be missed by conventional family-based association tests.

BackgroundMutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial infections (amorphic alleles) to mild disseminated mycobacterial disease (hypomorphic alleles) to chronic mucocutaneous candidiasis (CMC; hypermorphic alleles). The hypermorphic mutations are also associated with arterial aneurysms, autoimmunity, and squamous cell cancers.ObjectiveWe sought to investigate the role of STAT1 gain-of-function mutations in phenotypes other than CMC.MethodsWe initially screened patients with CMC and autoimmunity for STAT1 mutations. We functionally characterized mutations in vitro and studied immune profiles and regulatory T (Treg) cells. After our initial case identifications, we explored 2 large cohorts of patients with wild-type forkhead box protein 3 and an immune dysregulation-polyendocrinopathy-enteropathy-X-linked (IPEX)-like phenotype for STAT1 mutations.ResultsWe identified 5 children with polyendocrinopathy, enteropathy, and dermatitis reminiscent of IPEX syndrome; all but 1 had a variety of mucosal and disseminated fungal infections. All patients lacked forkhead box protein 3 mutations but had uniallelic STAT1 mutations (c.629 G>T, p.R210I; c.1073 T>G, p.L358W, c.796G>A; p.V266I; c.1154C>T, T385M [2 patients]). STAT1 phosphorylation in response to IFN-γ, IL-6, and IL-21 was increased and prolonged. CD4(+) IL-17-producing T-cell numbers were diminished. All patients had normal Treg cell percentages in the CD4(+) T-cell compartment, and their function was intact in the 2 patients tested. Patients with cells available for study had normal levels of IL-2-induced STAT5 phosphorylation.ConclusionsGain-of-function mutations in STAT1 can cause an IPEX-like phenotype with normal frequency and function of Treg cells.

The triglyceride-synthesizing enzyme acyl CoA:diacylglycerol acyltransferase 1 (DGAT1) plays a critical role in hepatitis C virus (HCV) infection by recruiting the HCV capsid protein core onto the surface of cellular lipid droplets (LDs). Here we find a new interaction between the non-structural protein NS5A and DGAT1 and show that the trafficking of NS5A to LDs depends on DGAT1 activity. DGAT1 forms a complex with NS5A and core and facilitates the interaction between both viral proteins. A catalytically inactive mutant of DGAT1 (H426A) blocks the localization of NS5A, but not core, to LDs in a dominant-negative manner and impairs the release of infectious viral particles, underscoring the importance of DGAT1-mediated translocation of NS5A to LDs in viral particle production. We propose a model whereby DGAT1 serves as a cellular hub for HCV core and NS5A proteins, guiding both onto the surface of the same subset of LDs, those generated by DGAT1. These results highlight the critical role of DGAT1 as a host factor for HCV infection and as a potential drug target for antiviral therapy.

The problem is to evaluate the behavior of an object when primary sources of information about the object become unavailable, so that any information must be obtained from the intelligent use of available secondary sources. This evaluative process is reactive sensing. Reactive sensing is initially viewed in terms of spatial super-resolution. The theory of reactive sensing is based on two equivalent ideas, one physical and one mathematical. The physical idea models volume, e.g., engine volume in the case of analyzing engine health, and the sensitivity of sensors to such volume. The mathematical idea of multiplicative frames provides the factorization theory to compare quantitatively such volume and sensitivity. This equivalence is the foundation for reactive sensing theory and its implementation. [ABSTRACT FROM AUTHOR]

Background: STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1 are now considered a frequent cause of cerebellar ataxia. Objective: We aimed to improve the clinical, radiological, and molecular delineation of SCAR16 and SCA48. Methods: Retrospective collection of patients with SCAR16 or SCA48 diagnosed in three French genetic centers (Montpellier, Strasbourg and Nancy). Results: Here, we report four SCAR16 and nine SCA48 patients from two SCAR16 and five SCA48 unrelated French families. All presented with slowly progressive cerebellar ataxia. Additional findings included cognitive decline, dystonia, parkinsonism and swallowing difficulties. The age at onset was highly variable, ranging from 14 to 76 years. Brain MRI showed marked cerebellar atrophy in all patients. Phenotypic findings associated with STUB1 pathogenic variations cover a broad spectrum, ranging from isolated slowly progressive ataxia to severe encephalopathy, and include extrapyramidal features. We described five new pathogenic variations, two previously reported pathogenic variations, and two rare variants of unknown significance in association with STUB1-related disorders. We also report the first pathogenic variation associated with both dominant and recessive forms of inheritance (SCAR16 and SCA48). Conclusion: Even though differences are observed between the recessive and dominant forms, it appears that a continuum exists between these two entities. While adding new symptoms associated with STUB1 pathogenic variations, we insist on the difficulty of genetic counselling in STUB1-related pathologies. Finally, we underscore the usefulness of DAT-scan as an additional clue for diagnosis. [ABSTRACT FROM AUTHOR]

Study of the inheritance pattern of human traits is one of the significant methods for analyzing the genetic history of a population. It has an important role in the determination of the chance of occurrence of genetic traits in the family or in the society. Therefore an attempt was made to determine the relevance of blood groups and the morphogenetic traits such as height, weight, hitchhiker's thumb, cleft little finger and handedness among 240 selected girl participants of three sampling sites in Dindigul town, Tamilnadu. On analysis, results revealed that the O+ve and B +ve blood group individuals were found to inherit more dominant traits such as height above 150 cm, weight below 55 kg, straight position of thumb, cleft less little finger and right handedness (R Pattern) which were found to be favourable characteristics in the sampled individuals. The prevalence of these dominant morphogenetic traits were registered as 71.6%, 65%, 70%, 78% and 81.6% were found to express more frequently in the population. The bent thumb, clefted little finger and left handedness (L Pattern) which were found to be recessive traits were recorded in O-ve, B-ve, A+ve and A1+ve in higher incidence rate. The O-ve and B-ve blood group participants inherited many of the observed recessive traits. We conclude from our study that the expression of dominant and recessive characters may vary and depend on the interplay of multiple alleles and other genetic factors. [ABSTRACT FROM AUTHOR]

BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare coding variation in these genes among unaffected individuals to provide context for variants that will be discovered when clinical subjects are sequenced.MethodsPublicly available data from the Exome Variant Project were analyzed, focusing on 36 genes known to harbor mutations causing autosomal dominant macular dystrophy.ResultsRates of rare (minor allele frequency ≤0.1%) and private missense variants within autosomal dominant retinal dystrophy genes were found to occur at a high frequency in unaffected individuals, while nonsense variants were not.ConclusionsWe conclude that rare missense variations in most of these genes identified in individuals with retinal dystrophy cannot be confidently classified as disease-causing in the absence of additional information such as linkage or functional validation.

The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally results in connective tissue, skeletal, vascular and dental abnormalities. Autosomal recessive HIES has been shown to be mainly due to mutations in DOCK8; these patients are more prone to viral skin infections instead. This review article discusses the common clinical features of the syndrome, the genetic mutations responsible and the pathogenesis of the disease, as well as treatments currently used.

PAX5 encodes a master regulator of B-cell development. It fuses to other genes associated with acute lymphoblastoid leukemia (ALL). These fusion products are potent dominant-negative (DN) inhibitors of wild-type PAX5, resulting in a blockade of B-cell differentiation. Here, we show that multimerization of PAX5 DNA-binding domain (DBD) is necessary and sufficient to cause extremely stable chromatin binding and DN activity. ALL-associated PAX5-C20S results from fusion of the N-terminal region of PAX5, including its paired DBD, to the C-terminus of C20orf112, a protein of unknown function. We report that PAX5-C20S is a tetramer, which interacts extraordinarily stably with chromatin as determined by Fluorescence Recovery After Photobleaching in living cells. Tetramerization, stable chromatin binding and DN activity all require a putative five-turn amphipathic α-helix at the C-terminus of C20orf112, and does not require potential corepressor binding peptides elsewhere in the sequence. In vitro, the monomeric PAX5 DBD and PAX5-C20S binds a PAX5-binding site with equal affinity when it is at the center of an oligonucleotide too short to bind to more than one PAX5 DBD. But, PAX5-C20S binds the same sequence with 10-fold higher affinity than the monomeric PAX5 DBD when it is in a long DNA molecule. We suggest that the increased affinity results from interactions of one or more of the additional DBDs with neighboring non-specific sites in a long DNA molecule, and that this can account for the increased stability of PAX5-C20S chromatin binding compared with wild-type PAX5, resulting in DN activity by competition for binding to PAX5-target sites. Consistent with this model, the ALL-associated PAX5 fused to ETV6 or the multimerization domain of ETV6 SAM results in stable chromatin binding and DN activity. In addition, PAX5 DBD fused to artificial dimerization, trimerization and tetramerization domains results in parallel increases in the stability of chromatin binding and DN activity. Our studies suggest that oncogenic fusion proteins that retain the DBD of the transcription factor (TF) and the multimerization sequence of the partner protein can act in a DN manner by multimerizing and binding avidly to gene targets, preventing the normal TF from binding and inducing expression of its target genes. Inhibition of this multimeriztion may provide a novel therapeutic approach for cancers with this or similar fusion proteins.

Purpose: This study aims to (1) establish GENEActiv intensity cutpoints in older adults and (2) compare the classification accuracy between dominant (D) or non-dominant (ND) wrist, using both laboratory and free-living data.Methods: Thirty-one older adults participated in the study. They wore a GENEActiv Original on each wrist and performed nine activities of daily living. A portable gas analyzer was used to measure energy expenditure for each task. Testing was performed on two occasions separated by at least 8 days. Some of the same participants (n = 13) also wore one device on each wrist during 3 days of free-living. Receiver operating characteristic analysis was performed to establish the optimal cutpoints.Results: For sedentary time, both dominant and non-dominant wrist had excellent classification accuracy (sensitivity 0.99 and 0.97, respectively; specificity 0.91 and 0.86, respectively). For Moderate to Vigorous Physical Activity (MVPA), the non-dominant wrist device had better accuracy (ND sensitivity: 0.90, specificity 0.79; D sensitivity: 0.90, specificity 0.64). The corresponding cutpoints for sedentary-to-light were 255 and 375 g · min (epoch independent: 42.5 and 62.5 mg), and those for the light-to-moderate were 588 and 555 g · min (epoch-independent: 98.0 and 92.5 mg) for the non-dominant and dominant wrist, respectively. For free-living data, the dominant wrist device resulted in significantly more sedentary time and significantly less light and MVPA time compared to the non-dominant wrist.

Abstract Background Home gardens are popular micro land-use system and are socioeconomically linked with people for their livelihood. In the foothill region of Eastern Himalaya, very less documentations are available on species richness of the home gardens, particularly on the ethnomedicinal plants. We assumed that the home garden owners of the study site are domesticating ethnomedicinal plants which are not easily accessible to them in the wild due to distant forest. This study was planned to explore and document the diversity and population status of ethnomedicinal plants in the home gardens along with its ethnomedicinal use. Methods The present study was conducted in the home gardens of Cooch Behar district of West Bengal from May 2017 to May 2018. A multidisciplinary approach like collection of plant specimen, interview with structured questionnaire for documenting the utilization pattern, and quadrat methods for population study was applied. We selected 150 study sites randomly in the village cluster. The owners of the gardens were the respondents for the household survey. The study documented diversity, population size, and medicinal uses of ethnomedicinal plant species identified by the garden owners growing or being grown in their gardens. Results A total of 260 plant species were reported, of which, 53 were utilized for different ethnomedicinal applications. These 53 species were represented by 35 families and 45 genera. Most of these ethnomedicinal species were woody perennials (37.73%). Cocus nucifera dominated the list with highest number of use followed by Hibiscus rosa-sinensis. The use value of the species varied from 0.006 to 0.53, while the fidelity value (%) ranged from 2.29 to 93.75%. The leaves of the plants were mostly used for ethnomedicinal applications (19 species) followed by fruits (12 species) and bark (9 species), and the least was the root (7 species). We documented 20 different ailments/diseases cured by using these plants. In some cases, more than one species are used to cure a disease or ailment. As many as 10 species were used to cure only stomach-related problems. Some more diseases like cough and cold and jaundice were treated using six and four species, respectively. Conclusion This documented list of 260 plant species including 53 ethnomedicinal ones from the home gardens of the study area indicates that these gardens are key in maintaining diversity and source of healthcare system in agricultural dominant landscape. Documenting such ecological status and traditional applications becomes a prerequisite for developing conservation and management strategies of home gardens to be included in the mainstream conservation processes.

PurposeCataracts are the most common cause of blindness worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report a novel mutation in the paired-like homeodomain 3 (PITX3) gene segregating in a four generation English family with an isolated autosomal dominant posterior polar cataract.MethodsA genome-wide linkage was performed by means of single nucleotide polymorphism (SNP) and microsatellite markers. Linkage analyses were performed with the GeneHunter and MLINK programs. Direct sequencing of PCR products was performed to detect mutation in the gene, using the BigDye version 3.1 and analyzed using Sequence analysis version 5.2.ResultsGenome-wide linkage analysis with SNP markers, identified a disease-haplotype interval on chromosome 10q. Two point positive logarithm of odds (LOD) scores was obtained with markers D10S205 (Z=3.10 at θ=0.00), flanked by markers D10S1709 and D10S543, which harbors the homeobox gene PITX3. Sequence analysis of PITX3 revealed a 1-bp deletion that cosegregated with all the affected members of this family which resulted in a frameshift in codon 181 and likely to produce an aberrant protein consisting of 127 additional residues.ConclusionsThe 542delC is a novel mutation in PITX3 causing an isolated posterior polar cataract.

Статья посвящена парковой архитектуре Хельсинки, где общая площадь парков и скверов составляет 30 процентов территории. Внимание автора сосредоточено на парках центральной части города: ландшафтных, прогулочных, ботанических, приморских, то есть предназначенных для всех возрастных групп населения. Почти все они относятся к разряду пейзажных. В качестве особенностей парков Хельсинки автор отмечает взаимодействие природной среды и архитектурных форм, а также использование рельефа местности холмисто-скального, приморского или лесистого. Важное значение имеет и тот факт, что большая часть общегородских зеленых территорий формировалась одновременно с получением городом статуса столицы Финляндии. Автор также рассматривает как обязательный элемент оформления паркового пространства Хельсинки скульптуру: анималистическую, историко-культурную, символическую. Все это в комплексе с органичным включением парковых зон в городскую среду, естественным взаимодействием с городской архитектурой, функциональностью и разноплановостью позволяет считать общегородские парки и скверы одной из доминант столицы Финляндии.

Bacterial leaf blight (BLB) disease is a rice disease caused by Xanthomonas oryzae pv.oryzae (Xoo). This disease causes devastating losses in the rice industry. To date research has been directed towards identifying QTLs and disease resistance genes that will afford resistance against Xoo. The rice plantations in different parts of the world are attacked by various strains of Xoo and thence the varieties that exhibit resistance to these strains may vary from one geographical location to another. In this paper we have analysed a QTL that has been recurrent in various rice backgrounds making it one of the three main QTLs responsible for BLB resistance in rice. qBBR11-1, a QTL found in chromosome eleven of rice is a good candidate for defense and resistance analysis towards BLB due to the various reports on the presence of multiple resistance genes in this QTL. Through the utilisation of bioinformatics tools we (1) identified and classified defense genes to functional groups, (2) identified and classified resistance genes according to the relevant domains, and finally, (3) mapped the relationship between defense related and resistance genes to build a defense model against BLB. A total of 21 defense genes have been classified according to functional groups such as chitinase activity, transduction signal and response to stress. A total of 37 putative resistance genes have been found and classified according to related domains such as nucleotide binding sites (NBS), trans membrane domains (Trd), WRKY domains and Ser / Thr Kin without LRR. Collectively all this information is used to provide a graphical representation of the interaction between the dense and the resistance gene systems. The key genes identified may be developed into markers for breeding or used in plant transformation works.