Shimanuki Shin-Ichi, Mikawa Ayumi, Miyake Yuko, Hamasima Noriyuki, Mikawa Satoshi, Awata Takashi
Animal Genome Research Program, Society for Techno-innovation of Agriculture, Forestry and Fisheries, Ibaraki, Japan.
Biochem Genet. 2005 Oct;43(9-10):491-500. doi: 10.1007/s10528-005-8165-0.
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.
在猪的1号染色体末端区域（SSC1qter）已检测到许多与生长和繁殖性状相关的数量性状基因座（QTL），这使其成为猪育种中最重要的基因组区域之一。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（TGFBR1）。我们克隆了猪TGFBR1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TGFBR1由9个外显子和8个内含子组成。内含子2在受体位点处存在可变剪接，产生两种mRNA，推定的开放阅读框长度分别为1500和1512 bp。较短的一种编码499个氨基酸残基。该氨基酸序列与人类和牛的TGFBR1的氨基酸序列相似性分别为96.2%和97.2%。猪和小鼠TGFBR1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中的替换为非同义替换，分别导致Pro8Ser和Ile413Val替换。
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