MECHANISMS OF DIVERGENCE AND CONVERGENCE OF THE HUMAN-IMMUNOGLOBULIN ALPHA-1 AND ALPHA-2 CONSTANT REGION GENE-SEQUENCES

MECHANISMS OF DIVERGENCE AND CONVERGENCE OF THE HUMAN-IMMUNOGLOBULIN ALPHA-1 AND ALPHA-2 CONSTANT REGION GENE-SEQUENCES
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DOI:
10.1016/0092-8674(84)90348-9
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发表时间:
1984-01-01
期刊:
影响因子:
64.5
通讯作者:
RABBITTS, TH
RABBITTS, TH
中科院分区:
生物学1区
文献类型:
--
作者:
FLANAGAN, JG;LEFRANC, MP;RABBITTS, TH

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提供了人α 1和2-等位基因α 2 IG H链恒定区基因的核苷酸序列。该基因含有3个外显子,每个外显子编码一个单一的恒定区蛋白结构域。蛋白质铰链区在第二外显子的5“末端编码,铰链长度的快速进化变化对应于铰链编码区内的重复或缺失,可能是由DNA序列中的重复促进的。α 1和α 2基因序列的比对揭示了在5 ″-侧翼区的不寻常的偶联缺失-重复,这可以用滑动链错配模型来解释。α 1基因和α 2基因的2个等位基因的核苷酸序列的比较表明遗传信息可能通过基因转换从α 1基因的3“末端局部转移到α 2等位基因之一。在明显发生转化的区域的一端,有一个40 bp的序列,可以形成Z-DNA。
Nucleotide sequences of the human .alpha.1 and 2-allelic .alpha.2 Ig H chain constant region genes are presented. The genes contain 3 exons, each encoding a single constant region protein domain. The protein hinge region is encoded at the 5'' end of the 2nd exon, and the rapid evolutionary changes in length of the hinge correspond to duplications or deletions within the hinge-coding region, probably facilitated by repeats in the DNA sequence. Alignment of the .alpha.1 and .alpha.2 gene sequences reveals an unusual coupled deletion-duplication in the 5''-flanking region, which can be explained in terms of a slipped-strand mispairing model. Comparison of nucleotide sequences of the .alpha.1 gene and 2 alleles of the .alpha.2 gene indicates a localized transfer of genetic information from the 3'' end of the .alpha.1 gene to 1 of the .alpha.2 alleles, probably by a gene conversion. At 1 end of the region within which conversion apparently occurred, there is a 40 bp [base-pair] sequence of the type that can form Z-DNA.