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家畜基因组中的拷贝数变异。

Copy number variation in the genomes of domestic animals.

机构信息

Department of Medical and Molecular Genetics, King's College London, Great Maze Pond, SE1 9RT, London, UK.

出版信息

Anim Genet. 2012 Oct;43(5):503-17. doi: 10.1111/j.1365-2052.2012.02317.x. Epub 2012 Mar 6.

Abstract

Copy number variation (CNV) might be one of the main contributors to phenotypic diversity and evolutionary adaptation in animals and plants, employing a wide variety of mechanisms, such as gene dosage and transcript structure alterations, to modulate organismal plasticity. In the past 4 years, considerable advances have been made in the characterization of the genomic architecture of CNV in domestic species. First, low-resolution CNV maps were produced for cattle, goat, sheep, pig, dog, chicken, duck and turkey, showing that these structural polymorphisms comprise a significant part of these genomes. Furthermore, CNVs have been associated with several pigmentation (white coat in horse, pig and sheep) and morphological (late feathering and pea comb in chicken) traits, as well as with susceptibility to a wide array of diseases and developmental disorders, for example osteopetrosis, anhidrotic ectodermal dysplasia, copper toxicosis, intersexuality, cone degeneration, periodic fever and dermoid sinus, among others. In the future, development of high-resolution tools for CNV detection and typing combined with the implementation of databases integrating CNV, QTL and gene expression data will be essential to identify and measure the impact of this source of structural variation on the many phenotypes that are relevant to animal breeders and veterinary practitioners.

摘要

拷贝数变异 (CNV) 可能是动物和植物表型多样性和进化适应的主要贡献者之一,它采用了多种机制,如基因剂量和转录结构改变,来调节生物体的可塑性。在过去的 4 年中,对家畜物种的 CNV 基因组结构特征的研究取得了相当大的进展。首先,为牛、山羊、绵羊、猪、狗、鸡、鸭和火鸡制作了低分辨率的 CNV 图谱,表明这些结构多态性构成了这些基因组的重要部分。此外,CNV 与多种色素沉着(马、猪和羊的白色外套)和形态(鸡的晚羽和豌豆状冠)特征有关,也与多种疾病和发育障碍的易感性有关,例如骨硬化症、无汗性外胚层发育不良、铜中毒、两性畸形、锥体退化、周期性发热和皮窦等。未来,开发用于 CNV 检测和分型的高分辨率工具,并结合整合 CNV、QTL 和基因表达数据的数据库的实施,对于识别和衡量这种结构变异源对与动物饲养员和兽医从业者相关的许多表型的影响至关重要。

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