ORGANIZATION OF THE HUMAN PROTEIN-S GENES
ORGANIZATION OF THE HUMAN PROTEIN-S GENES
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DOI：
10.1021/bi00486a010
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发表时间：
1990-08-28
期刊：
影响因子：
2.9
通讯作者：
LONG, GL
中科院分区：
文献类型：
--
作者：
SCHMIDEL, DK;TATRO, AV;LONG, GL
跨越整个蛋白S表达基因（PS α）的人基因组克隆和蛋白S假基因（PS β）的3“2/3。已被分离并鉴定。PS α。该基因长度大于80个碱基，包含14个内含子和15个外显子，以及6个重复的“Alu”序列。外显子I和XV分别含有112和1139 bp的5“和3”非编码片段以及氨基和羧基末端。外显子I-VIII编码与维生素K依赖性凝血蛋白同源的蛋白质片段，并由位置和类型与该蛋白质家族的其他成员相同的内含子结合。外显子IX-XV编码与性激素结合球蛋白（SHBG）同源的蛋白质片段，并由与SHBG基因中相同类型和位置的内含子限制。PS β的基因组克隆基因覆盖大于55个碱基的距离，并含有对应于成熟蛋白的氨基酸46-635和cDNA的1.1-kb 3 ″非编码区的片段。该基因编码区存在多个碱基变化，导致终止密码子和移码，表明它是一个假基因。这两个基因的DNA序列比较显示，编码区和3“非编码区的同源性为97%，内含子区的同源性为95.4%，表明这两个基因的分歧是一个相对较新的事件。
Human genomic clones that span the entire protein S expressed gene (PS.alpha.) and the 3'' two-thirds of the protein S pseudogene (PS.beta.) have been isolated and characterized. The PS.alpha. gene is greater than 80 kilobases in length and contains 14 introns and 15 exons, as well as 6 repetitive "Alu" sequences. Exons I and XV contain 112 and 1139 bp 5'' and 3'' noncoding segments in addition to the amino and carboxyl termini, respectively. Exons I-VIII encode protein segments that are homologous to the vitamin K dependent clotting proteins and are bounded by introns whose position and type are identical with other members of this protein family. Exons IX-XV encode protein segments homologous to sex hormone binging globulin (SHBG) and are bounded by introns of identical type and position as in the SHBG gene. Genomic clones for the PS.beta. gene cover a distance of greater than 55 kilobases and contain segments corresponding to amino acids 46-635 of the mature protein and the 1.1-kb 3'' noncoding region of the cDNA. The presence of multiple base changes in the coding portions of this gene, resulting in termination codons and frame shifts, suggests that it is a pseudogene. Comparison of DNA sequences for the two genes reveals 97% identity for coding and 3'' noncoding, and 95.4% for intronic regions, suggesting divergence of the two genes is a relatively recent event.