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犬细胞因子信号传导抑制因子2(SOCS2)基因变异的特征分析

Characterization of variation in the canine suppressor of cytokine signaling-2 (SOCS2) gene.

作者信息

Rincón G, Young A E, Bannasch D L, Medrano J F

机构信息

Department of Animal Science, University of California, Davis, CA, USA.

出版信息

Genet Mol Res. 2007 Mar 28;6(1):144-51.

Abstract

Suppressor of cytokine signaling 2 (SOCS2) is a negative regulator of growth hormone signaling. The deletion of SOCS2 in mice results in a 30-50% increase in post-natal growth. In an effort to identify polymorphisms in the SOCS2 gene that may be associated with body size in dogs, we characterized the canine SOCS2 gene and analyzed its genetic diversity among small and large dog breeds. The study was carried out on a total of 520 dogs from 66 different breeds. Dogs were classified as large or small based on height and weight as determined by their respective American Kennel Club breed standards. The SH2 and SOCS domains of the canine SOCS2 gene were sequenced in 32 dogs from different breeds. Only one non-synonymous sequence variant (DQ415457:g.326G>T) was detected which corresponds to an amino acid change (Asp127Tyr). All samples were genotyped by PCR/RFLP and the allele frequencies were determined for each dog breed. The T allele was distributed primarily among European large dog breeds with a gene frequency ranging from 0.72 to 0.04. The nature of the nucleotide change and the effect on the protein together with the finding of a QTL related to body size in the same CFA15 region by other researchers suggest canine SOCS2 as a potential candidate gene for body size in dogs. Future studies will be needed to clarify the role of the 326G>T polymorphism and its interaction with genes like growth hormone and insulin-like growth factor 1.

摘要

细胞因子信号转导抑制因子2(SOCS2)是生长激素信号的负调节因子。小鼠中SOCS2的缺失导致出生后生长增加30%-50%。为了鉴定可能与犬类体型相关的SOCS2基因多态性,我们对犬类SOCS2基因进行了特征分析,并分析了其在小型和大型犬种中的遗传多样性。该研究共对来自66个不同品种的520只犬进行。根据美国养犬俱乐部各自的品种标准所确定的身高和体重,将犬分为大型或小型。对来自不同品种的32只犬的犬类SOCS2基因的SH2和SOCS结构域进行了测序。仅检测到一个非同义序列变异(DQ415457:g.326G>T),其对应于一个氨基酸变化(Asp127Tyr)。通过PCR/RFLP对所有样本进行基因分型,并确定每个犬种的等位基因频率。T等位基因主要分布在欧洲大型犬种中,基因频率范围为0.72至0.04。核苷酸变化的性质及其对蛋白质的影响,以及其他研究人员在同一CFA15区域发现的与体型相关的QTL,表明犬类SOCS2是犬类体型的潜在候选基因。未来需要进一步研究来阐明326G>T多态性的作用及其与生长激素和胰岛素样生长因子1等基因的相互作用。

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