Intergenic DNA sequences flanking the pseudo alpha globin genes of human and chimpanzee.
Intergenic DNA sequences flanking the pseudo alpha globin genes of human and chimpanzee.
复制标题
人类和黑猩猩伪 α 珠蛋白基因侧翼的基因间 DNA 序列。
DOI：
10.1093/nar/11.22.8087
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发表时间：
1983
影响因子：
14.9
通讯作者：
Schmid,C
中科院分区：
文献类型：
--
作者：
Sawada,I;Beal,MP;Shen,CK;Chapman,B;Wilson,AC;Schmid,C
我们已经确定了人类伪α珠蛋白 (Φα) 基因上游 2400 个碱基对的序列，并且为了进行比较，还确定了黑猩猩 Φα 基因内部和上游 DNA 的 1100 个碱基对的序列。 Φα基因启动子上游的区域与成年α2和α1球蛋白基因的基因间区域没有显着同源性。黑猩猩基因与人类α基因具有共同的编码缺陷，表明该基因的产物（如果有的话）在人类和黑猩猩分化之前就已失活。然而，黑猩猩基因含有正常的 ATG 起始密码子，而人类基因则以 GTG 作为起始密码子。人类和黑猩猩的 α 基因两侧都有相同的 Alu 家族成员。自人类和黑猩猩分化以来，该重复序列的结构和位置就没有改变，并且至少与其紧邻的侧翼序列一样保守。与人类和黑猩猩相比，300 bp的Alu重复仅积累了2个碱基替换和1个长度突变；相邻的 300 bp 侧翼区域积累了 5 个碱基替换和 12 个长度突变。
We have determined the sequence of 2400 base pairs upstream from the human pseudo alpha globin (Φα) gene, and for comparison, 1100 base pairs of DNA within and upstream from the chimpanzee Φα gene. The region upstream from the promoter of the Φα gene shows no significant homology to the intergenic regions of the adult α2 and αl globin genes.The chimpanzee gene has a coding defect in common with the human α gene, showing that the product of this gene, if any, was inactivated before the divergence of human and chimpanzee. However the chimpanzee gene contains a normal ATG initiation codon in contrast to the human gene which has GTG as the initiation codon.The α genes of both human and chimpanzee are flanked by the same Alu family member. The structure and position of this repeat have not been altered since the divergence of human and chimpanzee, and it is at least as well conserved as its immediate flanking sequence. Comparing human and chimpanzee, the 300 bp Alu repeat has accumulated only two base substitutions and one length mutation; the adjacent 300 bp flanking region has accumulated five base substitutions and twelve length mutations.