马ATP2A2基因的分子特征

Molecular characterization of the equine ATP2A2 gene.

作者信息

Mömke S, Distl O

机构信息

Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.

出版信息

Cytogenet Genome Res. 2007;116(4):256-62. doi: 10.1159/000100409.

DOI:10.1159/000100409

PMID:17431323

Abstract

The mammalian ATP2A2 gene encodes a P-type cation pump located in the sarcoplasmic or endoplasmic reticula of muscle cells. We isolated one bacterial artificial chromosome (BAC) clone containing the equine ATP2A2 gene and determined the complete coding sequence of this gene. Cloning and characterization of the equine ATP2A2 gene revealed that the equine ATP2A2 gene consists of 20 exons. In total, 32 horses out of 16 breeds were analyzed for single nucleotide polymorphisms (SNPs). A mutation scan for SNPs included ten exons and their flanking introns. We detected in total 17 SNPs, 14 of which were located in introns, one in exon 9 and two in exon 20. In this report we provide the genomic organization and the equine ATP2A2 coding sequence and an association analysis for chronic pastern dermatitis using a sample of South German draft horses.

摘要

哺乳动物的ATP2A2基因编码一种位于肌肉细胞肌浆网或内质网中的P型阳离子泵。我们分离出一个包含马ATP2A2基因的细菌人工染色体（BAC）克隆，并确定了该基因的完整编码序列。马ATP2A2基因的克隆和特征分析表明，马ATP2A2基因由20个外显子组成。总共对16个品种的32匹马进行了单核苷酸多态性（SNP）分析。SNP的突变扫描包括十个外显子及其侧翼内含子。我们总共检测到17个SNP，其中14个位于内含子中，1个位于外显子9中，2个位于外显子20中。在本报告中，我们提供了基因组结构、马ATP2A2编码序列，并使用德国南部挽马样本对慢性跗关节皮炎进行了关联分析。