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人类免疫球蛋白相关B29基因(IGB)的分离与染色体定位

Isolation and chromosomal mapping of the human immunoglobulin-associated B29 gene (IGB).

作者信息

Wood W J, Thompson A A, Korenberg J, Chen X N, May W, Wall R, Denny C T

机构信息

Department of Microbiology and Immunology, UCLA School of Medicine.

出版信息

Genomics. 1993 Apr;16(1):187-92. doi: 10.1006/geno.1993.1157.

Abstract

The B29 gene encodes a B-cell-specific membrane protein in the immunoglobulin antigen receptor complex. B29 is a crucial member of this receptor complex and is believed to function as an effector of signal transduction in a manner analogous to that of the CD3 components of the T cell antigen receptor. We have isolated a full-length human B29 cDNA clone by using a murine B29 cDNA probe. We show that there is an extremely high degree of evolutionary conservation between the human and mouse proteins, particularly in the transmembrane and intracytoplasmic regions, where the identity is 96%. In addition, the intracytoplasmic region in both proteins contains an identical peptide motif that is present in a number of molecules involved in lymphocyte activation. Genomic Southern blot analysis of human cell lines hybridized with both murine and human B29 cDNAs gives patterns consistent with a single-copy gene occupying a small region of the genomic sequence. Using human B29 cosmid DNA, we have localized the B29 gene to human chromosome 17q23 via fluorescence in situ hybridization. B29 is the first gene localized to this area of the genome. Interestingly, a subset of human B cell chronic lymphocytic leukemias (CLL) has translocations in this locus on chromosome 17.

摘要

B29基因在免疫球蛋白抗原受体复合物中编码一种B细胞特异性膜蛋白。B29是该受体复合物的关键成员,据信其以类似于T细胞抗原受体的CD3成分的方式作为信号转导的效应器发挥作用。我们使用鼠B29 cDNA探针分离出了一个全长人B29 cDNA克隆。我们发现人和小鼠蛋白质之间存在极高程度的进化保守性,特别是在跨膜区和胞质内区域,其同一性为96%。此外,两种蛋白质的胞质内区域都含有一个相同的肽基序,该基序存在于许多参与淋巴细胞激活的分子中。用人细胞系与鼠和人B29 cDNA杂交进行的基因组Southern印迹分析给出的模式与占据基因组序列小区域的单拷贝基因一致。使用人B29黏粒DNA,我们通过荧光原位杂交将B29基因定位到人类染色体17q23。B29是第一个定位到该基因组区域的基因。有趣的是,一部分人类B细胞慢性淋巴细胞白血病(CLL)在17号染色体的这个位点发生了易位。

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