The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status
The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status
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DOI：
10.1038/86856
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发表时间：
2001-04-01
期刊：
影响因子：
30.8
通讯作者：
Georges, M
中科院分区：
文献类型：
--
作者：
Charlier, C;Segers, K;Georges, M
在绵羊中描述的callipyge（CLPG）表型（来自kappa alpha lambda iota，“美丽”和pi iota gamma，“臀部”）是一种遗传性肌肉肥大，受到称为极性超显性的不寻常的起源父母效应：只有从其父系遗传CLPG突变的杂合子个体才会表现出肌肉肥大（1）。callipyge（clpg）基因座定位于约400 kb的片段（参考文献2-4），该片段显示含有优先在骨骼肌中表达并在该组织中经历亲本印记的基因（DLK 1、GTL 2、PEG 11和MEG 8）（5-9）。在这里，我们描述了CLPG突变对这四个基因表达的影响，并证明了丽鱼个体具有独特的表达谱，可能是观察到的极性超显性。因为观察到的极地优势。
The callipyge (CLPG) phenotype (from kappa alpha lambda iota, "beautiful," and pi iota gamma epsilon, "buttocks") described in sheep is an inherited muscular hypertrophy that is subject to unusual parent-of-origin effect referred to as polar overdominance:only heterozygous individuals having inherited the CLPG mutation from their sire exhibit muscular hypertrophy(1). The callipyge (clpg) locus was mapped to a segment of approximately 400 kb (refs, 2-4), which was shown to contain genes (DLK1, GTL2, PEG11 and MEG8) that are preferentially expressed in skeletal muscle and subject to parental imprinting in this tissue(5-9). Here we describe effect of the CLPG mutation on the expression of these four genes, and demonstrate that callipyge individuals have a unique expression profile that may for the observed polar overdominance. for the observed polar overdominance.