Polar overdominant inheritance of a DLK1 polymorphism is associated with growth and fatness in pigs
Polar overdominant inheritance of a DLK1 polymorphism is associated with growth and fatness in pigs
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DOI：
10.1007/s00335-004-2341-0
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发表时间：
2004-07-01
期刊：
影响因子：
2.5
通讯作者：
Rothschild, MF
中科院分区：
文献类型：
--
作者：
Kim, KS;Kim, LL;Rothschild, MF
提出极性超显性遗传模型来解释绵羊的非孟德尔遗传。calipyge基因座（CLPG）定位于DLK 1-GTL 2区域内的绵羊染色体18的远端部分，并且对应于人染色体14 q32，其中该区域的单亲二体性（UPD）与多种先天性异常相关，包括生长迟缓和肥胖。我们调查了猪DLK 1-GTL 2区域在两个猪品种的交叉，以确定是否calipyge极性超显性存在于另一个物种。在F2后代的DLK 1多态性的父母起源的分析发现，DLK 1等位基因2的父系遗传和等位基因1的母系遗传显着相关的脂肪沉积减少和增加瘦肌肉质量，而相反的父母遗传这些等位基因与出生前和出生后生长缓慢。这些结果表明，极性超显性遗传模式是存在于猪染色体区域是同源的CLPG位点在绵羊。对猪的进一步研究可以为理解与人类E14和绵羊calipyge表型相关的印迹基因的分子调控提供重要的见解。
The polar overdominance model of inheritance was proposed to explain the non-Mendelian expression of callipyge muscular hypertrophy in sheep. The callipyge locus (CLPG) maps to the distal portion of ovine Chromosome 18 within the DLK1- GTL2 region and corresponds to human Chromosome 14q32, where uniparental disomy (UPD) of the region is associated with multiple congenital anomalies, including growth retardation and obesity. We investigated the porcine DLK1- GTL2 region in a cross of two pig breeds to determine if the callipyge polar overdominance is present in another species. Analyses of the parental origin of DLK1 polymorphism in the F2 offspring found that paternal inheritance of DLK1 allele 2 and maternal inheritance of the allele 1 was significantly associated with decreased fat deposition and increased lean muscle mass, while the opposite parental inheritance of these alleles was associated with slower prenatal and postnatal growth. These results suggest that the polar overdominance mode of inheritance is present in the pig chromosomal region that is homologous to the CLPG locus in sheep. Further study in pigs can provide important insights into understanding the molecular regulation of imprinted genes that are associated with human UPD14 and sheep callipyge phenotypes.