Thomas J T, Cresswell C J, Rash B, Nicolai H, Jones T, Solomon E, Grant M E, Boot-Handford R P
Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Manchester, U.K.
Biochem J. 1991 Dec 15;280 ( Pt 3)(Pt 3):617-23. doi: 10.1042/bj2800617.
We report on the complete primary translated sequence of human alpha 1(X) collagen, deduced from a genomic clone, and the chromosomal localization of the human collagen X gene. The primary translated product of human collagen X is encoded by two exons of 169 bp and approx. 2940 bp. The 169 bp exon encodes 15 bp of 5'-end untranslated sequence, 18 amino acid residues (54 bp) of signal peptide and 33 1/3 amino acid residues (100 bp) of the N-terminal non-collagenous domain. The 2940 bp exon encodes 4 2/3 amino acid residues (14 bp) of the N-terminal non-collagenous domain, the complete triple-helical domain of 463 amino acid residues (1389 bp), the complete C-terminal non-collagenous domain of 161 amino acid residues (483 bp) and 1054 bp of 3'-end untranslated sequence up to and including a potential cleavage/polyadenylation signal. The size of the intron separating the two exons, as estimated by partial sequencing and Southern-blot analyses, is approx. 3200 bp. By a combination of somatic cell hybrid screening and hybridization in situ the human collagen X gene (COL10A1) has been assigned to the distal end of the long arm of chromosome 6 at the locus 6q21-6q22.3.
我们报告了从基因组克隆推导的人α1(X)胶原蛋白的完整初级翻译序列，以及人胶原蛋白X基因的染色体定位。人胶原蛋白X的初级翻译产物由两个外显子编码，分别为169 bp和约2940 bp。169 bp的外显子编码5'-端非翻译序列的15 bp、信号肽的18个氨基酸残基（54 bp）和N端非胶原结构域的33 1/3个氨基酸残基（100 bp）。2940 bp的外显子编码N端非胶原结构域的4 2/3个氨基酸残基（14 bp）、463个氨基酸残基（1389 bp）的完整三螺旋结构域、161个氨基酸残基（483 bp）的完整C端非胶原结构域以及3'-端非翻译序列的1054 bp，直至并包括一个潜在的切割/多聚腺苷酸化信号。通过部分测序和Southern印迹分析估计，分隔这两个外显子的内含子大小约为3200 bp。通过体细胞杂交筛选和原位杂交相结合的方法，已将人胶原蛋白X基因（COL10A1）定位到6号染色体长臂远端6q21 - 6q22.3位点。
