137 research outputs found

    A Genome-Wide Association Study Reveals Loci Influencing Height and Other Conformation Traits in Horses

    Get PDF
    The molecular analysis of genes influencing human height has been notoriously difficult. Genome-wide association studies (GWAS) for height in humans based on tens of thousands to hundreds of thousands of samples so far revealed ∼200 loci for human height explaining only 20% of the heritability. In domestic animals isolated populations with a greatly reduced genetic heterogeneity facilitate a more efficient analysis of complex traits. We performed a genome-wide association study on 1,077 Franches-Montagnes (FM) horses using ∼40,000 SNPs. Our study revealed two QTL for height at withers on chromosomes 3 and 9. The association signal on chromosome 3 is close to the LCORL/NCAPG genes. The association signal on chromosome 9 is close to the ZFAT gene. Both loci have already been shown to influence height in humans. Interestingly, there are very large intergenic regions at the association signals. The two detected QTL together explain ∼18.2% of the heritable variation of height in horses. However, another large fraction of the variance for height in horses results from ECA 1 (11.0%), although the association analysis did not reveal significantly associated SNPs on this chromosome. The QTL region on ECA 3 associated with height at withers was also significantly associated with wither height, conformation of legs, ventral border of mandible, correctness of gaits, and expression of the head. The region on ECA 9 associated with height at withers was also associated with wither height, length of croup and length of back. In addition to these two QTL regions on ECA 3 and ECA 9 we detected another QTL on ECA 6 for correctness of gaits. Our study highlights the value of domestic animal populations for the genetic analysis of complex traits

    The electroretinogram:a useful tool for evaluating age-related macular disease?

    Get PDF
    With an ageing population, the number of age-related macular disease (ARMD) cases will inevitably rise. This gives greater impetus for the need to identify the disease earlier and assess treatments to slow disease progression. Differing electroretinogram (ERG) modalities have been reviewed in relation to the objective assessment of retinal function in ARMD and for monitoring the effectiveness of clinical interventions. Conflicting results have been found with regard to the efficacy of ERG findings in the investigation of ARMD in previous years. The newer multifocal ERG paradigm provides spatial topographical information about retinal function in ARMD. It has shown promising results in monitoring effectiveness of clinical interventions and studies are continuing in this area. Better knowledge of retinal function in ARMD may lead to enhanced treatments at each phase of the disease

    A High Density SNP Array for the Domestic Horse and Extant Perissodactyla: Utility for Association Mapping, Genetic Diversity, and Phylogeny Studies

    Get PDF
    An equine SNP genotyping array was developed and evaluated on a panel of samples representing 14 domestic horse breeds and 18 evolutionarily related species. More than 54,000 polymorphic SNPs provided an average inter-SNP spacing of ∼43 kb. The mean minor allele frequency across domestic horse breeds was 0.23, and the number of polymorphic SNPs within breeds ranged from 43,287 to 52,085. Genome-wide linkage disequilibrium (LD) in most breeds declined rapidly over the first 50–100 kb and reached background levels within 1–2 Mb. The extent of LD and the level of inbreeding were highest in the Thoroughbred and lowest in the Mongolian and Quarter Horse. Multidimensional scaling (MDS) analyses demonstrated the tight grouping of individuals within most breeds, close proximity of related breeds, and less tight grouping in admixed breeds. The close relationship between the Przewalski's Horse and the domestic horse was demonstrated by pair-wise genetic distance and MDS. Genotyping of other Perissodactyla (zebras, asses, tapirs, and rhinoceros) was variably successful, with call rates and the number of polymorphic loci varying across taxa. Parsimony analysis placed the modern horse as sister taxa to Equus przewalski. The utility of the SNP array in genome-wide association was confirmed by mapping the known recessive chestnut coat color locus (MC1R) and defining a conserved haplotype of ∼750 kb across all breeds. These results demonstrate the high quality of this SNP genotyping resource, its usefulness in diverse genome analyses of the horse, and potential use in related species

    Transcription regulation of the Escherichia coli pcnB gene coding for poly(A) polymerase I: roles of ppGpp, DksA and sigma factors

    Get PDF
    Poly(A) polymerase I (PAP I), encoded by the pcnB gene, is a major enzyme responsible for RNA polyadenylation in Escherichia coli, a process involved in the global control of gene expression in this bacterium through influencing the rate of transcript degradation. Recent studies have suggested a complicated regulation of pcnB expression, including a complex promoter region, a control at the level of translation initiation and dependence on bacterial growth rate. In this report, studies on transcription regulation of the pcnB gene are described. Results of in vivo and in vitro experiments indicated that (a) there are three σ70-dependent (p1, pB, and p2) and two σS-dependent (pS1 and pS2) promoters of the pcnB gene, (b) guanosine tetraphosphate (ppGpp) and DksA directly inhibit transcription from pB, pS1 and pS2, and (c) pB activity is drastically impaired at the stationary phase of growth. These results indicate that regulation of the pcnB gene transcription is a complex process, which involves several factors acting to ensure precise control of PAP I production. Moreover, inhibition of activities of pS1 and pS2 by ppGpp and DksA suggests that regulation of transcription from promoters requiring alternative σ factors by these effectors of the stringent response might occur according to both passive and active models

    Emergence of a Novel Avian Pox Disease in British Tit Species

    Get PDF
    Avian pox is a viral disease with a wide host range. In Great Britain, avian pox in birds of the Paridae family was first diagnosed in a great tit (Parus major) from south-east England in 2006. An increasing number of avian pox incidents in Paridae have been reported each year since, indicative of an emergent infection. Here, we utilise a database of opportunistic reports of garden bird mortality and morbidity to analyse spatial and temporal patterns of suspected avian pox throughout Great Britain, 2006–2010. Reports of affected Paridae (211 incidents) outnumbered reports in non-Paridae (91 incidents). The majority (90%) of Paridae incidents involved great tits. Paridae pox incidents were more likely to involve multiple individuals (77.3%) than were incidents in non-Paridae hosts (31.9%). Unlike the small wart-like lesions usually seen in non-Paridae with avian pox in Great Britain, lesions in Paridae were frequently large, often with an ulcerated surface and caseous core. Spatial analyses revealed strong clustering of suspected avian pox incidents involving Paridae hosts, but only weak, inconsistent clustering of incidents involving non-Paridae hosts. There was no spatial association between Paridae and non-Paridae incidents. We documented significant spatial spread of Paridae pox from an origin in south-east England; no spatial spread was evident for non-Paridae pox. For both host clades, there was an annual peak of reports in August/September. Sequencing of the avian poxvirus 4b core protein produced an identical viral sequence from each of 20 great tits tested from Great Britain. This sequence was identical to that from great tits from central Europe and Scandinavia. In contrast, sequence variation was evident amongst virus tested from 17 non-Paridae hosts of 5 species. Our findings show Paridae pox to be an emerging infectious disease in wild birds in Great Britain, apparently originating from viral incursion from central Europe or Scandinavia

    Exclusive Breastfeeding Practices in Relation to Social and Health Determinants: a Comparison of the 2006 and 2011 Nepal Demographic and Health Surveys

    Get PDF
    Background: Exclusive breastfeeding (EBF) for the first six months can have a significant impact on reducing child morbidity and mortality rates. The objective of this study was to compare the determinants of and trends in EBF in infants =5 months from the 2006 and 2011 Nepal Demographic and Health Surveys. Methods: Data on mother/infant pairs having infants of =5 months from 2006 (n = 482) and 2011 (n = 227) were analysed. The EBF rate, determinants of EBF, and changes in EBF rates between the 2006 and 2011 surveys were examined using Chi-square test and multiple logistic regression. Results: The EBF rate for =5 months in 2006 was 53.2% (95% CI, 47.1%-59.3%) and 66.3% (95% CI, 56.6%-74.8%) in 2011. In 2006, infants =4 months were more likely to be EBF [(aOR) 3.086, 95% CI (1.825-5.206)] after controlling for other factors. A geographic effect was also found in this study, with the odds of EBF higher for infants from the Hills [aOR 3.426, 95% CI (1.568-7.474)] compared to those form the mountains. The odds of EBF were also higher for higher order infants [aOR 1.968, 95% CI (1.020-3.799)]. Infants whose fathers belonged to non-agricultural occupation were less likely to be provided with EBF. Infants who were delivered in the home were more likely to experience EBF [aOR 1.886; 95% CI (1.044-3.407)]. In 2011, infants of age =4 months were more likely [aOR 4.963, 95% CI (2.317-10.629)] to have been breastfed exclusively. While there was an increase in the EBF rate between 2006 and 2011 surveys, the significant increase was noticed only among the infants of four months [32.0%; 95% CI (19.9%-47.0%)] in 2006 to [65.5%; 95% CI (48.1-79.6)] in 2011.Conclusions: The proportion of infants who were EBF was higher in Nepal in 2011survey compared to 2006 survey; however, this is still below the recommended WHO target of 90%. Infant’s age, ecological region, parity and father’s occupation were associated with EBF. Further interventions such as peer counselling, antenatal counselling and involving fathers in the community to promote EBF in Nepal are recommended
    corecore