免疫球蛋白类别转换重组：通过人类天然突变体进行的研究
Immunoglobulin class switch recombination: study through human natural mutants.
作者信息
Durandy Anne
机构信息
INSERM, U768, Paris 75015, France.
出版信息
Philos Trans R Soc Lond B Biol Sci. 2009 Mar 12;364(1517):577-82. doi: 10.1098/rstb.2008.0210.
Abstract
Immunoglobulin class switch recombination deficiencies in humans are exquisite models to analyse the mechanisms of class switch recombination (CSR). Besides defects in CD40L/CD40 interaction, others result from an intrinsic B-cell deficiency. The recent elucidation of the molecular basis of some of them has made it possible to delineate the molecular events involved in antibody maturation. Activation-induced (cytidine) deaminase (AID) and uracil-N-glycosylase deficiencies have demonstrated the role of AID as the inducer of DNA lesions in switch and variable regions. However, most of these CSR deficiencies remain molecularly undefined. Their characterization would lead to a better understanding of the complex machinery involved in CSR.
摘要
人类免疫球蛋白类别转换重组缺陷是分析类别转换重组（CSR）机制的绝佳模型。除了CD40L/CD40相互作用缺陷外，其他缺陷源于内在的B细胞缺陷。最近对其中一些缺陷分子基础的阐明使得描绘抗体成熟过程中涉及的分子事件成为可能。激活诱导（胞嘧啶）脱氨酶（AID）和尿嘧啶-N-糖基化酶缺陷已经证明了AID作为开关和可变区DNA损伤诱导剂的作用。然而，这些CSR缺陷中的大多数在分子水平上仍未明确。对它们的表征将有助于更好地理解参与CSR的复杂机制。
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