In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain

PurposeThe objective of this study is to validate the existence of dual cores within the typical phosphotyrosine binding (PTB) domain and to identify potentially damaging and pathogenic nonsynonymous coding single nuclear polymorphisms (nsSNPs) in the canonical PTB domain of the CCM2 gene that causes cerebral cavernous malformations (CCMs).MethodsThe nsSNPs within the coding sequence for PTB domain of human CCM2 gene, retrieved from exclusive database searches, were analyzed for their functional and structural impact using a series of bioinformatic tools. The effects of mutations on the tertiary structure of the PTB domain in human CCM2 protein were predicted to examine the effect of nsSNPs on the tertiary structure of PTB Cores.ResultsOur mutation analysis, through alignment of protein structures between wildtype CCM2 and mutant, predicted that the structural impacts of pathogenic nsSNPs is biophysically limited to only the spatially adjacent substituted amino acid site with minimal structural influence on the adjacent core of the PTB domain, suggesting both cores are independently functional and essential for proper CCM2 PTB function.ConclusionUtilizing a combination of protein conservation and structure-based analysis, we analyzed the structural effects of inherited pathogenic mutations within the CCM2 PTB domain. Our results predicted that the pathogenic amino acid substitutions lead to only subtle changes locally, confined to the surrounding tertiary structure of the PTB core within which it resides, while no structural disturbance to the neighboring PTB core was observed, reaffirming the presence of independently functional dual cores in the CCM2 typical PTB domain.     

The null allele in the horse esterase (Es) system detected by enzyme assay and rocket immunoelectrophoresis in heterozygous animals

The detection of the recessive null allele of horse serum esterase (Es) is possible in heterozygotes Es +/EsO which by starch gel electrophoresis appear like homo-zygotes Es +/Es + .
Two methods are proposed, the titration of enzymatic activity of esterase and the immunochemical titration of esterase as antigen. These methods can be applied to solve the cases of suspect parentage or in population studies.     

A model of weak selection in the infinite alleles framework

Ewens (1972) proposed a model in the infinite allele framework for populations with neutrality of all alleles at a particular locus. This paper proposes a generalisation of Ewens' result for situations where there is a form of weak selection. The models considered here are continuous time, discrete state space Markov processes.     

Comparison of milk protein allele frequencies in Nordic cattle breeds

Allele frequencies at four milk protein loci were studied in five modern and 17 old Nordic cattle breeds in order to reveal variants that are characteristic for these populations. The B allele of CSN3, which has been associated with improved manufacturing properties of milk, showed significantly lower frequencies in modern production breeds than in old breeds of interest for conservation purposes. Characteristic frequencies of CSN1S1 (C), CSN2 (A2) and CSN3 (B) were found in Icelandic cattle, Swedish Mountain cattle, Northern Finncattle and Western Fjord cattle, which indicate a common origin of these populations. Further comparisons of allele frequencies in old Nordic breeds suggest sorting of these breeds into two groups with a northern and southern geographic location.     

Relationship between esterase gene frequencies and length in juvenile snapper Chrysophrys auratus Forster

Samples of 0-group snapper Chrysophrys auratus were collected in the Hauraki Gulf of New Zealand in 1979,1980 and 1981. Each fish was measured and the liver examined for an esterase polymorphism. A similar change in allele frequency with length was observed in each year class. In the total data set there is a significant relationship between allele frequency and length. The relationships between allele frequencies and temperature and growth, along with implications for genetic-stock separation studies are discussed.     

Breed demarcation and potential for breed allocation of horses assessed by microsatellite markers

Population demarcation of eight horse breeds was investigated using genotype information of 306 horses from 26 microsatellite loci. The breeds include the indigenous Norwegian breeds Fjord Horse, Nordland/Lyngen Horse, Døle Horse and Coldblooded Trotter together with Icelandic Horse, Shetland Pony, Standardbred and Thoroughbred. Both phylogenetic analysis and a maximum likelihood method were applied to examine the potential for breed allocation of individual animals. The phylogenetic analysis utilizing simple allele sharing statistics revealed clear demarcation among the breeds; 95% of the individuals clustered together with animals of the same breed in the phylogenetic tree. Even breeds with a short history of divergence like Døle Horse and Coldblooded Trotter formed distinct clusters. Implementing the maximum likelihood method allocated 96% of the individuals to their source population, applying an assignment stringency of a log of the odds ratio larger than 2. Lower allocation stringency assigned nearly all the horses. Only three individuals were wrongly allocated a breed by both methods. In conclusion, the study demonstrates clear distinction among horse breeds, and by combining the two assignment methods breed allocation could be determined for more than 99% of the individuals.     

新疆棉区田间棉铃虫种群对Bt Cry1Ac毒蛋白的敏感性研究

为了明确新疆棉区棉铃虫Helicoverpa armigera(Hübner)种群对Bt Cry1Ac毒蛋白的敏感性变化,本次研究采用单雌系F1/F2代诊断剂量法于2013-2019年连续监测了新疆库尔勒市棉铃虫种群对Cry1Ac毒蛋白的抗性频率以及种群敏感度的变化.结果表明,2013-2019年新疆库尔勒市棉铃虫种群...