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人类T细胞重排基因γ恒定区的遗传多态性及外显子变化

Genetic polymorphism and exon changes of the constant regions of the human T-cell rearranging gene gamma.

作者信息

Lefranc M P, Forster A, Rabbitts T H

出版信息

Proc Natl Acad Sci U S A. 1986 Dec;83(24):9596-600. doi: 10.1073/pnas.83.24.9596.

Abstract

The genomic nucleotide sequences of the constant-region (C) genes of the human T-cell rearranging gene gamma are given. These sequences show considerable allelic and nonallelic variation. Allelic variants exist at both C gamma 1 and C gamma 2 loci in coding regions (as well as in restriction enzyme sites). Both C gamma genes are in the same transcriptional orientation. Moreover, the organization of the nonallelic C gamma genes reveals some interesting features: the C gamma 1 gene, like the mouse C gamma gene, has three exons, whereas the C gamma 2 gene has four exons, including a duplicated second exon that would create a putative protein with an enlarged constant region. However, these two duplicated exons in C gamma 2 have lost the cysteine residue that is thought to be involved in the interchain disulfide bridge.

摘要

给出了人类T细胞重排基因γ恒定区(C)基因的基因组核苷酸序列。这些序列显示出相当大的等位基因和非等位基因变异。在编码区(以及限制性酶切位点)的Cγ1和Cγ2位点均存在等位基因变体。两个Cγ基因具有相同的转录方向。此外,非等位Cγ基因的组织揭示了一些有趣的特征:Cγ1基因与小鼠Cγ基因一样,有三个外显子,而Cγ2基因有四个外显子,包括一个重复的第二个外显子,这将产生一个具有扩大恒定区的推定蛋白质。然而,Cγ2中的这两个重复外显子已经失去了被认为参与链间二硫键的半胱氨酸残基。

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