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该 SNP c.1326T>G 位于非 SMC 凝聚素 I 复合物亚基 G(NCAPG)基因中,编码 p.Ile442Met 变异体,与牛青春期体躯尺寸增加有关。

The SNP c.1326T>G in the non-SMC condensin I complex, subunit G (NCAPG) gene encoding a p.Ile442Met variant is associated with an increase in body frame size at puberty in cattle.

机构信息

Cattle Breeding Development Institute of Kagoshima Prefecture, Osumi, So, Kagoshima, Japan.

出版信息

Anim Genet. 2011 Dec;42(6):650-5. doi: 10.1111/j.1365-2052.2011.02196.x. Epub 2011 Apr 14.

DOI:10.1111/j.1365-2052.2011.02196.x
PMID:22035007
Abstract

Recently, we had located a bovine carcass weight QTL, CW-2, to a 591-kb interval on BTA6 and have identified the SNP c.1326T>G in the NCAPG (non-SMC condensin I complex, subunit G) gene that leads to the amino acid change p.Ile442Met in the NCAPG protein, which is a candidate causative variation. Here, we examined the association of the NCAPG:c.1326T>G locus with linear skeletal measurements of growth-associated traits during adolescence, which is a period of intensive growth, using two historically and geographically distant cattle populations: 792 Japanese Black steers and 161 F(2) bulls of an experimental cross from Charolais and German Holstein. In both populations, the SNP NCAPG:c.1326T>G was associated with each component of body frame size: height, length and width at puberty. The associations of CW-2 with height- and length-associated traits were observed at an earlier growth period compared to the associations with thickness- and width-associated traits, indicating that the primary effect of the CW-2 QTL may possibly be exerted on skeletal growth. The significant associations of the NCAPG:c.1326T>G locus with growth-associated skeletal measurements are similar to the effects of the syntenic region on human chromosome 4 that are associated with adult height in humans, supporting the hypothesis that CW-2 is analogous to the human locus and pointing to a conserved growth-associated locus or chromosomal region present in both species.

摘要

最近,我们在 BTA6 上定位到了一个牛胴体重量 QTL,CW-2,并确定了 SNP c.1326T>G 在 NCAPG(非-SMC 凝聚素 I 复合物,亚基 G)基因中,导致 NCAPG 蛋白中的氨基酸变化 p.Ile442Met,这是一个候选致病变异。在这里,我们使用两个历史和地理上不同的牛种群:792 头日本黑牛和 161 头夏洛莱和德国荷斯坦杂交的 F(2)公牛,检查了 NCAPG:c.1326T>G 基因座与青春期生长相关性状的线性骨骼测量之间的关联,这是一个生长活跃的时期。在这两个群体中,SNP NCAPG:c.1326T>G 与身体框架大小的每个组成部分有关:青春期的身高、长度和宽度。与厚度和宽度相关的性状相比,CW-2 与身高和长度相关的性状的关联出现在更早的生长时期,这表明 CW-2 QTL 的主要影响可能作用于骨骼生长。NCAPG:c.1326T>G 基因座与生长相关的骨骼测量之间的显著关联与人类 4 号染色体上的同基因区域对人类身高的影响相似,支持 CW-2 类似于人类基因座的假说,并指出在这两个物种中存在保守的生长相关基因座或染色体区域。

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