Structure and Polymorphism Analysis of Transforming Growth Factor Beta Receptor 1 (TGFBR1) in Pigs
Structure and Polymorphism Analysis of Transforming Growth Factor Beta Receptor 1 (TGFBR1) in Pigs
复制标题
猪转化生长因子β受体1（TGFBR1）的结构和多态性分析
作者：
S. Shimanuki;A. Mikawa;Y. Miyake;N. Hamasima;S. Mikawa;T. Awata
猪染色体1qter区域（SSC 1qter）是猪育种的重要基因组区域之一，目前已检测到许多与生长和繁殖性状相关的数量性状位点（QTL）。SSC1q对应于人类9号染色体，其上存在转化生长因子β受体1（TGFBR 1）。本研究克隆了猪TGFBR 1的cDNA和基因（作为QTL的候选基因），并分析了基因结构和多态性。猪TGFBR 1基因由9个外显子和8个内含子组成。内含子2在受体位点选择性剪接，产生两种mRNA，推定的开放阅读框长度为1500和1512 bp。短的一个编码499个氨基酸残基。氨基酸序列分别与人和牛的TGFBR 1具有96.2%和97.2%的序列相似性。猪和小鼠TGFBR 1之间的序列相似性为95.6%。我们在外显子1、2和7中检测到三个单核苷酸替换。外显子1和7中的那些是分别导致Pro8Ser和Ile413Val取代的非同义取代。
Many quantitative trait loci (QTL) for growth and reproductive traits have been detected on the porcine chromosome region 1qter (SSC1qter), making it one of the most important genomic regions for pig breeding. SSC1q corresponds to human chromosome 9, on which lies transforming growth factor beta receptor 1 (TGFBR1). We cloned the porcine TGFBR1 cDNA and gene (as a candidate for QTL) and analyzed the gene structure and polymorphism. Porcine TGFBR1 consists of 9 exons and 8 introns. Intron 2 is alternatively spliced at the acceptor site, resulting in two kinds of mRNA, with putative open reading frames of 1500 and 1512 bp in length. The shorter one encodes 499 amino acid residues. The amino acid sequence has 96.2 and 97.2% sequence similarity to those of human and bovine TGFBR1, respectively. The sequence similarity between porcine and murine TGFBR1 is 95.6%. We detected three single-nucleotide substitutions in exons 1, 2, and 7. Those in exons 1 and 7 are nonsynonymous substitutions resulting in Pro8Ser and Ile413Val substitutions, respectively.
人类转化生长因子-β I 型受体基因的克隆和基因组组织。
影响因子：
4.4
作者：
Vellucci,VF;Reiss,M
通讯作者：
Reiss,M