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人类CD79α(Ig-α/mb-1)基因的染色体定位、基因组结构及等位基因多态性

Chromosomal localization, genomic structure, and allelic polymorphism of the human CD79 alpha (Ig-alpha/mb-1) gene.

作者信息

Hashimoto S, Mohrenweiser H W, Gregersen P K, Chiorazzi N

机构信息

Department of Medicine, North Shore University Hospital, Manhasset, NY 11030.

出版信息

Immunogenetics. 1994;40(4):287-95. doi: 10.1007/BF00189974.

Abstract

The germline DNA sequence of the human CD79 alpha (Ig-alpha/mb-1) gene was determined by polymerase chain reaction sequencing of a cosmid clone derived from an arrayed human chromosome 19 library. The CD79 alpha gene was localized to chromosome 19q13.2; this localization places the gene within the CEA-like gene cluster with the following gene order: -CEA-CGM1-CD79 alpha-RPS11-ATP1A3-BGP-CGM9-. The genomic organization of the human CD79 alpha gene resembles the mouse counterpart with five exons interrupted by four introns. Computer analyses suggest the presence of transcription regulatory elements known to be important in the regulation of mouse CD79 alpha (AP-1, EBF, AP-2, MUF2, and SP-1 sites), as well as elements not found in the mouse gene (an NK-kappa B binding site and a series of E-box motifs). Similar to the mouse gene, the 5' flanking region of human CD79 alpha lacks a TATA box; however, unlike mouse CD79 alpha, a classical octamer motif could not be identified in the human gene. Finally, a new Rsa I restriction fragment length polymorphism was defined in the non-coding regions of the human gene.

摘要

通过对来自一个有序排列的人类19号染色体文库的黏粒克隆进行聚合酶链反应测序,确定了人类CD79α(Ig-α/mb-1)基因的种系DNA序列。CD79α基因定位于19号染色体q13.2;这一定位将该基因置于CEA样基因簇内,其基因顺序如下:-CEA-CGM1-CD79α-RPS11-ATP1A3-BGP-CGM9-。人类CD79α基因的基因组结构与小鼠对应基因相似,有5个外显子被4个内含子打断。计算机分析表明存在已知对小鼠CD79α调控很重要的转录调控元件(AP-1、EBF、AP-2、MUF2和SP-1位点),以及在小鼠基因中未发现的元件(一个NK-κB结合位点和一系列E盒基序)。与小鼠基因类似,人类CD79α的5'侧翼区缺乏TATA盒;然而,与小鼠CD79α不同,在人类基因中未鉴定出经典的八聚体基序。最后,在人类基因的非编码区定义了一种新的Rsa I限制性片段长度多态性。

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