Serial translocation by means of circular intermediates underlies colour sidedness in cattle
Serial translocation by means of circular intermediates underlies colour sidedness in cattle
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DOI：
10.1038/nature10757
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发表时间：
2012-02-02
期刊：
影响因子：
64.8
通讯作者：
Charlier, Carole
中科院分区：
文献类型：
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作者：
Durkin, Keith;Coppieters, Wouter;Charlier, Carole
颜色侧性是牛的一种主要遗传表型，其特征是侧翼、鼻子和耳尖上的色素部分极化(1)。它也被称为“Lineback”或“witrik”(意思是白色的背部)，因为彩色的动物通常会在它们的脊椎上显示一条白色的条纹。至少在中世纪就有了颜色偏向的记录，目前在世界各地的几个牛品种中都有分离，包括比利时的蓝色和棕色的瑞士牛(1，2)。在此，我们报道了由29号染色体上的第一个等位基因(Cs-29)和6号染色体上的第二个等位基因(Cs-6)决定的，第一个等位基因(Cs-29)是由包含KIT的492 kb碱基片段移位到29号染色体上的，而6号染色体上的第二个等位基因(Cs-6)是由第一个等位基因(Cs-6)决定的，第一个等位基因是通过将融合的575 kb的6号染色体和29号染色体的序列送回Kit基因座而产生的。我们提供的证据表明，这两种易位事件都涉及环状中间体。据我们所知，这是第一个由同源但非同源等位基因决定的表型，这些等位基因是由一种新的拷贝数变异产生机制产生的。
Colour sidedness is a dominantly inherited phenotype of cattle characterized by the polarization of pigmented sectors on the flanks, snout and ear tips(1). It is also referred to as 'lineback' or 'witrik' (which means white back), as colour-sided animals typically display a white band along their spine. Colour sidedness is documented at least since the Middle Ages and is presently segregating in several cattle breeds around the globe, including in Belgian blue and brown Swiss(1,2). Here we report that colour sidedness is determined by a first allele on chromosome 29 (Cs-29), which results from the translocation of a 492-kilobase chromosome 6 segment encompassing KIT to chromosome 29, and a second allele on chromosome 6 (Cs-6), derived from the first by repatriation of fused 575-kilobase chromosome 6 and 29 sequences to the KIT locus. We provide evidence that both translocation events involved circular intermediates. This is the first example, to our knowledge, of a phenotype determined by homologous yet non-syntenic alleles that result from a novel copy-number-variant-generating mechanism.