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弗里扎尔塔奶羊的全基因组群体结构与进化史

Genome-wide population structure and evolutionary history of the Frizarta dairy sheep.

作者信息

Kominakis A, Hager-Theodorides A L, Saridaki A, Antonakos G, Tsiamis G

机构信息

1Department of Animal Science and Aquaculture,Agricultural University of Athens,Iera Odos 75,11855 Athens,Greece.

2Department of Environmental and Natural Resources Management,University of Patras,Seferi 2,30100 Agrinio,Greece.

出版信息

Animal. 2017 Oct;11(10):1680-1688. doi: 10.1017/S1751731117000428. Epub 2017 Mar 9.

Abstract

In the present study, we used genomic data, generated with a medium density single nucleotide polymorphisms (SNP) array, to acquire more information on the population structure and evolutionary history of the synthetic Frizarta dairy sheep. First, two typical measures of linkage disequilibrium (LD) were estimated at various physical distances that were then used to make inferences on the effective population size at key past time points. Population structure was also assessed by both multidimensional scaling analysis and k-means clustering on the distance matrix obtained from the animals' genomic relationships. The Wright's fixation F ST index was also employed to assess herds' genetic homogeneity and to indirectly estimate past migration rates. The Wright's fixation F IS index and genomic inbreeding coefficients based on the genomic relationship matrix as well as on runs of homozygosity were also estimated. The Frizarta breed displays relatively low LD levels with r 2 and |D'| equal to 0.18 and 0.50, respectively, at an average inter-marker distance of 31 kb. Linkage disequilibrium decayed rapidly by distance and persisted over just a few thousand base pairs. Rate of LD decay (β) varied widely among the 26 autosomes with larger values estimated for shorter chromosomes (e.g. β=0.057, for OAR6) and smaller values for longer ones (e.g. β=0.022, for OAR2). The inferred effective population size at the beginning of the breed's formation was as high as 549, was then reduced to 463 in 1981 (end of the breed's formation) and further declined to 187, one generation ago. Multidimensional scaling analysis and k-means clustering suggested a genetically homogenous population, F ST estimates indicated relatively low genetic differentiation between herds, whereas a heat map of the animals' genomic kinship relationships revealed a stratified population, at a herd level. Estimates of genomic inbreeding coefficients suggested that most recent parental relatedness may have been a major determinant of the current effective population size. A denser than the 50k SNP panel may be more beneficial when performing genome wide association studies in the breed.

摘要

在本研究中,我们使用通过中密度单核苷酸多态性(SNP)阵列生成的基因组数据,以获取更多关于合成弗里扎尔塔奶羊种群结构和进化历史的信息。首先,在不同物理距离上估计了两种典型的连锁不平衡(LD)度量,然后用于推断关键过去时间点的有效种群大小。还通过对从动物基因组关系获得的距离矩阵进行多维缩放分析和k均值聚类来评估种群结构。赖特固定F ST指数也用于评估畜群的遗传同质性,并间接估计过去的迁移率。还估计了基于基因组关系矩阵以及纯合子连续区域的赖特固定F IS指数和基因组近亲繁殖系数。弗里扎尔塔品种在平均标记间距离为31 kb时,显示出相对较低的LD水平,r 2和|D'|分别等于0.18和0.50。连锁不平衡随距离迅速衰减,仅在几千个碱基对中持续存在。LD衰减率(β)在26条常染色体之间差异很大,较短染色体估计值较大(例如,OAR6的β = 0.057),较长染色体估计值较小(例如,OAR2的β = 0.022)。该品种形成开始时推断的有效种群大小高达549,然后在1981年(品种形成结束时)降至463,并在一代前进一步降至187。多维缩放分析和k均值聚类表明种群在遗传上是同质的,F ST估计表明畜群之间的遗传分化相对较低,而动物基因组亲缘关系的热图显示在畜群水平上种群是分层的。基因组近亲繁殖系数的估计表明,最近的亲本亲缘关系可能是当前有效种群大小的主要决定因素。在该品种中进行全基因组关联研究时,比50k SNP面板更密集的面板可能更有益。

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