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通过IgG同种异型的异常定位显示人类免疫球蛋白γ基因座中的基因转换。

Gene conversion in human immunoglobulin gamma locus shown by unusual location of IgG allotypes.

作者信息

Lefranc M P, Helal A N, de Lange G, Chaabani H, van Loghem E, Lefranc G

出版信息

FEBS Lett. 1986 Feb 3;196(1):96-102. doi: 10.1016/0014-5793(86)80221-6.

Abstract

The constant region of the gamma 1, gamma 2 and gamma 3 heavy chains of the human IgG1, IgG2 and IgG3 immunoglobulins carries antigenic determinants or G1m, G2m and G3m allotypes, which are genetic markers of these subclasses. The exceptional presence on gamma 1 and gamma 2 chains of Gm allotypes usually located on the CH3 domain of gamma 3 shows an unexpected clustering of base changes and subsequent identity of short DNA sequences in the CH3 exon of the non-allelic gamma 1, gamma 2 and gamma 3 genes. Such clusters of substitutions are not easily explained on the classical basis of point mutations. A gene conversion, which substituted a segment of the gamma 1 or gamma 2 gene with the homologous region of the non-allelic gamma 3 gene, is more likely. Other examples of possible conversion involving the gamma genes are described. The conservation or the restoration of short sequences produced by the conversion events might be related to the biological properties of the constant region of the heavy chains.

摘要

人类IgG1、IgG2和IgG3免疫球蛋白的γ1、γ2和γ3重链恒定区携带抗原决定簇或G1m、G2m和G3m同种异型,它们是这些亚类的遗传标记。通常位于γ3的CH3结构域上的Gm同种异型在γ1和γ2链上异常出现,这表明在非等位基因γ1、γ2和γ3基因的CH3外显子中,碱基变化意外地聚集在一起,随后短DNA序列具有同一性。这种替代簇不容易用经典的点突变来解释。更有可能的是基因转换,即用非等位基因γ3基因的同源区域替换γ1或γ2基因的一段。还描述了涉及γ基因的其他可能转换的例子。由转换事件产生的短序列的保守或恢复可能与重链恒定区的生物学特性有关。

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