Domestic animals as models for biomedical research.
Domestic animals as models for biomedical research.
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DOI：
10.3109/03009734.2015.1091522
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发表时间：
2016
影响因子：
3.4
通讯作者：
Andersson L
中科院分区：
文献类型：
--
作者：
Andersson L
家畜是生物医学研究的独特模型，因为它们具有悠久的历史（数千年），具有强大的表型选择。这一过程丰富了新的突变，有助于家畜的表型进化。这种突变的表征提供了对基因功能和生物学机制的见解。本文综述了影响色素沉着，行为，代谢调节和运动模式的约50种遗传变异的遗传解剖。这些变异是由大约30个不同基因的突变控制的，其中10个是我们小组第一个报告基因和表型之间的关联的。报告的突变中几乎有一半发生在非编码序列中，这表明这是表型变异基础上最常见的多态性类型，因为这是一个有偏见的列表，其中编码突变的比例被夸大，因为它们更容易找到。该综述文献表明，结构变化（重复、缺失和倒位）对家畜表型多样性的进化有重要贡献。最后，我们描述了等位基因进化的五个例子，这意味着等位基因是通过影响同一基因功能的几个连续突变的积累而进化的。
Domestic animals are unique models for biomedical research due to their long history (thousands of years) of strong phenotypic selection. This process has enriched for novel mutations that have contributed to phenotype evolution in domestic animals. The characterization of such mutations provides insights in gene function and biological mechanisms. This review summarizes genetic dissection of about 50 genetic variants affecting pigmentation, behaviour, metabolic regulation, and the pattern of locomotion. The variants are controlled by mutations in about 30 different genes, and for 10 of these our group was the first to report an association between the gene and a phenotype. Almost half of the reported mutations occur in non-coding sequences, suggesting that this is the most common type of polymorphism underlying phenotypic variation since this is a biased list where the proportion of coding mutations are inflated as they are easier to find. The review documents that structural changes (duplications, deletions, and inversions) have contributed significantly to the evolution of phenotypic diversity in domestic animals. Finally, we describe five examples of evolution of alleles, which means that alleles have evolved by the accumulation of several consecutive mutations affecting the function of the same gene.