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CYRN1和CYRN2这两个人类基因的分子克隆、染色体定位及表达分析,这两个基因编码cyritestin,一种参与配子相互作用的精子蛋白。

Molecular cloning, chromosomal localization, and expression analysis of CYRN1 and CYRN2, two human genes coding for cyritestin, a sperm protein involved in gamete interaction.

作者信息

Adham I M, Kim Y, Shamsadin R, Heinlein U A, Von Beust G, Mattei M G, Engel W

机构信息

Institut für Humangenetik, Georg-August-Universität, Göttingen, Germany.

出版信息

DNA Cell Biol. 1998 Feb;17(2):161-8. doi: 10.1089/dna.1998.17.161.

Abstract

Germ cell cyritestin is a membrane-anchored protein belonging to the ADAM family of proteins. Sequencing of eight human cyritestin cDNA clones revealed that they are identical at their 5' and 3' ends but differ from each other in the length of an internal deletion, suggesting that the human cyritestin mRNA is alternatively spliced. Internal deletions that are present in some cDNA isoforms do not cause a frameshift in the C-terminal coding region. Analysis of the predicted amino acid sequences demonstrated that the human cyritestin is a polymorphic protein that could include membrane-anchored and soluble forms. Southern blot analysis and characterization of human cyritestin genomic fragments revealed that the human genome contains two copies of the cyritestin gene instead of one as in the mouse. The human CYRN1 and CYRN2 genes were assigned to the region p12-21 of chromosome 8 and q12 of chromosome 16, respectively. Northern blot and RT-PCR analyses revealed that both human genes are expressed in the testis. Amino acid sequence comparisons between cyritestin and other members of the metalloprotease-disintegrin family of proteins suggested that human and mouse cyritestin and monkey tMDCI are homologous molecules.

摘要

生殖细胞cyritestin是一种膜锚定蛋白,属于ADAM蛋白家族。对8个人类cyritestin cDNA克隆进行测序发现,它们在5'和3'端相同,但内部缺失长度彼此不同,这表明人类cyritestin mRNA存在可变剪接。一些cDNA异构体中存在的内部缺失不会导致C端编码区发生移码。对预测的氨基酸序列进行分析表明,人类cyritestin是一种多态性蛋白,可能包括膜锚定形式和可溶性形式。对人类cyritestin基因组片段的Southern印迹分析和表征显示,人类基因组包含两个cyritestin基因拷贝,而不是像小鼠那样只有一个。人类CYRN1和CYRN2基因分别定位于8号染色体的p12 - 21区域和16号染色体q12区域。Northern印迹和RT-PCR分析表明,这两个人类基因均在睾丸中表达。cyritestin与金属蛋白酶-解整合素蛋白家族其他成员之间的氨基酸序列比较表明,人类和小鼠的cyritestin以及猴的tMDCI是同源分子。

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