纯金镶嵌现象支持了在臀肌肥大表型决定中一个非编码A到G转换的因果关系。
Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism of the callipyge phenotype.
作者信息
Smit Maria, Segers Karin, Carrascosa Laura Garcia, Shay Tracy, Baraldi Francesca, Gyapay Gabor, Snowder Gary, Georges Michel, Cockett Noelle, Charlier Carole
机构信息
Department of Animal, Dairy and Veterinary Sciences, College of Agriculture, Utah State University, Logan, Utah 84322-4700, USA.
出版信息
Genetics. 2003 Jan;163(1):453-6. doi: 10.1093/genetics/163.1.453.
Abstract
To identify the callipyge mutation, we have resequenced 184 kb spanning the DLK1-, GTL2-, PEG11-, and MEG8-imprinted domain and have identified an A-to-G transition in a highly conserved dodecamer motif between DLK1 and GTL2. This was the only difference found between the callipyge (CLPG) allele and a phylogenetically closely related wild-type allele. We report that this SNP is in perfect association with the callipyge genotype. The demonstration that Solid Gold-the alleged founder ram of the callipyge flock-is mosaic for this SNP virtually proves the causality of this SNP in the determinism of the callipyge phenotype.
摘要
为了鉴定臀肌肥大突变，我们对跨越DLK1、GTL2、PEG11和MEG8印记区域的184 kb进行了重测序，并在DLK1和GTL2之间高度保守的十二聚体基序中鉴定出一个A到G的转换。这是在臀肌肥大（CLPG）等位基因和系统发育上密切相关的野生型等位基因之间发现的唯一差异。我们报告这个单核苷酸多态性（SNP）与臀肌肥大基因型完全相关。有证据表明，所谓臀肌肥大羊群的奠基公羊“纯金”在这个SNP上是嵌合体，这几乎证明了这个SNP在臀肌肥大表型决定中的因果关系。
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