NUCLEOTIDE-SEQUENCE OF THE GENE FOR HUMAN FACTOR-IX (ANTIHEMOPHILIC FACTOR-B)
NUCLEOTIDE-SEQUENCE OF THE GENE FOR HUMAN FACTOR-IX (ANTIHEMOPHILIC FACTOR-B)
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DOI：
10.1021/bi00335a049
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发表时间：
1985-01-01
期刊：
影响因子：
2.9
通讯作者：
KURACHI, K
中科院分区：
文献类型：
--
作者：
YOSHITAKE, S;SCHACH, BG;KURACHI, K
通过使用人蛋白质的cDNA作为杂交探针，筛选两个不同的人基因组DNA文库中的凝血因子IX的基因。五个重叠的.鉴定出含有因子IX基因的细胞。. apprx的完整DNA序列用双脱氧链终止法和化学降解法建立了该基因及其5“和3”侧翼区的38个酶。该基因含有. apprx。33.5在基因的编码区和3“非编码区内包括7个内含子和8个外显子的DNA的翻译酶。8个外显子编码前原前导序列和415个氨基酸，组成血浆中循环的成熟蛋白。插入序列的长度范围为188 ~ 9473个核苷酸，含有4个Alu重复序列，其中1个位于内含子A，3个位于内含子F。在该基因的3“末端发现了第5个Alu重复序列。内含子A中的50个碱基对插入物在来自基因组文库之一的克隆中被发现，但在来自另一文库的克隆中不存在。内含子A以及基因的3“非编码区也含有交替的嘌呤-嘧啶序列，为基因提供了潜在的左手螺旋DNA或Z-DNA结构。在内含子D和基因5“端侧翼区域鉴定了Kpn I重复序列。5“侧翼区还含有1.9-kb HindIII亚家族重复序列。因子IX基因中的7个内含子位于与人蛋白C基因中的7个内含子基本相同的位置，而前3个内含子位于与人凝血酶原基因中的内含子相同的位置。
Two different human genomic DNA libraries were screened for the gene for blood coagulation factor IX by employing a cDNA for the human protein as a hybridization probe. Five overlapping .lambda. phages were identified that contained the gene for factor IX. The complete DNA sequence of .apprx. 38 kilobases for the gene and the adjacent 5'' and 3'' flanking regions was established by the dideoxy chain termination and chemical degradation methods. The gene contained .apprx. 33.5 kilobases of DNA, including 7 introns and 8 exons within the coding and 3'' noncoding regions of the gene. The 8 exons code for a prepro leader sequence and 415 amino acids that make up the mature protein circulating in plasma. The intervening sequences range in size from 188 to 9473 nucleotides and contain 4 Alu repetitive sequences, including 1 in intron A and 3 in intron F. A 5th Alu repetitive sequence was found immediately flanking the 3'' end of the gene. A 50 base pair insert in intron A was found in a clone from 1 of the genomic libraries but was absent in clones from the other library. Intron A as well as the 3'' noncoding region of the gene also contained alternating purine-pyrimidine sequences that provide potential left-handed helical DNA or Z-DNA structures for the gene. KpnI repetitive sequences were identified in intron D and the region flanking the 5'' end of the gene. The 5'' flanking region also contained a 1.9-kb HindIII subfamily repeat. The 7 introns in the gene for factor IX were located in essentially the same position as the 7 introns in the gene for human protein C, while the first 3 were found in positions identical with those in the gene for human prothrombin.