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牛5'腺苷酸活化蛋白激酶(AMPK)基因家族:图谱绘制与单核苷酸多态性检测

The bovine 5' AMPK gene family: mapping and single nucleotide polymorphism detection.

作者信息

McKay Stephanie D, White Stephen N, Kata Srinivas R, Loan Raymond, Womack James E

机构信息

Department of Veterinary Pathobiology, Texas A&M University, College Station, TX 77843-4467, USA.

出版信息

Mamm Genome. 2003 Dec;14(12):853-8. doi: 10.1007/s00335-003-2276-x.

Abstract

The 5'-AMP-activated protein kinase (AMPK) family is an ancient stress response system whose primary function is regulation of cellular ATP. Activation of AMPK, which is instigated by environmental and nutritional stresses, initiates energy-conserving measures that protect the cell by inhibition and phosphorylation of key enzymes in energy-consuming biochemical pathways. The seven genes that comprise the bovine AMPK family were mapped in cattle by using a radiation hybrid panel. The seven genes mapped to six different cattle chromosomes, each with a LOD score greater than 10.0. PRKAA1 mapped to BTA 20, PRKAA2 and PRKAB2 to BTA 3, PRKAB1 to BTA 17, PRKAG1 to BTA 5, PRKAG2 to BTA 4, and PRKAG3 to BTA 2. Five of the seven genes mapped to regions expected from human/cattle comparative maps. PRKAB2 and PRKAG3, however, have not been mapped in humans. We predict these genes to be located on HSA 1 and 2, respectively. Additionally, one synonymous and one non-synonymous single nucleotide polymorphism (SNP) were detected in PRKAG3 in Bos taurus cattle. In an effort to determine ancestral origins, various herds of mixed breed cattle as well as other ruminant species were characterized for sequence variation in this region of PRKAG3. Owing to the physiological importance of this gene family, we believe that its individual genes are candidate genes for conferring resistance to diseases in cattle.

摘要

5'-AMP 激活蛋白激酶(AMPK)家族是一个古老的应激反应系统,其主要功能是调节细胞内的三磷酸腺苷(ATP)。AMPK 的激活由环境和营养应激引发,它启动节能措施,通过抑制和磷酸化耗能生化途径中的关键酶来保护细胞。利用辐射杂种细胞系对牛的 AMPK 家族的七个基因进行了定位。这七个基因定位于六条不同的牛染色体上,每条染色体的基因定位分数(LOD)均大于 10.0。PRKAA1 定位于牛 20 号染色体(BTA 20),PRKAA2 和 PRKAB2 定位于 BTA 3,PRKAB1 定位于 BTA 17,PRKAG1 定位于 BTA 5,PRKAG2 定位于 BTA 4,PRKAG3 定位于 BTA 2。七个基因中的五个定位于人类/牛比较图谱预期的区域。然而,PRKAB2 和 PRKAG3 在人类中尚未定位。我们预测这两个基因分别位于人类 1 号染色体(HSA 1)和 2 号染色体(HSA 2)上。此外,在黄牛的 PRKAG3 基因中检测到一个同义单核苷酸多态性(SNP)和一个非同义 SNP。为了确定其祖先起源,对各种混种牛群以及其他反刍动物物种在 PRKAG3 基因的该区域进行了序列变异特征分析。鉴于该基因家族的生理重要性,我们认为其各个基因是牛抗病性的候选基因。

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