MOLECULAR-CLONING AND IN-SITU LOCALIZATION OF THE HUMAN CONTACTIN GENE (CNTN1) ON CHROMOSOME 12Q11-Q12
MOLECULAR-CLONING AND IN-SITU LOCALIZATION OF THE HUMAN CONTACTIN GENE (CNTN1) ON CHROMOSOME 12Q11-Q12
复制标题
DOI：
10.1006/geno.1994.1316
复制
发表时间：
1994-06-01
期刊：
影响因子：
4.4
通讯作者：
RANSCHT, B
中科院分区：
文献类型：
--
作者：
BERGLUND, EO;RANSCHT, B
鸡接触蛋白/F11（在小鼠中也称为F3）是免疫球蛋白（Ig）基因家族中的一种神经细胞粘附分子，在发育中的神经系统中参与轴突连接的形成。在人脑中，contactin首次通过小扁豆凝集素结合糖蛋白Gp135的氨基末端和肽段测序确定。我们现在报道了编码人类接触蛋白的cDNA克隆的分离和特性。人类contactin由6个C2 ig结构域和4个纤维连接蛋白III型（FNIII）重复序列组成，并通过糖基磷脂酰肌醇片段锚定在膜上，通过PI-PLC处理转染contactin cDNA的细胞和[H-3]乙醇胺代谢标记表明。在氨基酸水平上，h-接触蛋白与鸡接触蛋白/F11的一致性为78%，与小鼠接触蛋白/ F3的一致性为94%。分离并测序了编码两个推测的contactin亚型的独立cDNA: h-contactin 1 cDNA编码一种具有纯化Gp135氨基末端序列的蛋白质，而推测的h-contactin 2基因缺失33个核苷酸，预测一种具有缩短氨基末端的蛋白质。Northern分析用两种同工异构体共同的探针在成人大脑中检测到一个约6.6 kb的mRNA物种。荧光原位杂交将人类接触基因定位于人类染色体12q11-q12。因此，h-contact基因位点与同源盒3、整合素亚基α 5、几个原癌基因、与各种肿瘤相关的染色体断点以及Stickler综合征的基因位点非常接近。人类接触的克隆现在允许研究它在人类神经系统紊乱中的作用。(C) 1994学术出版社，Inc.
Chick contactin/F11 (also known as F3 in mouse) is a neuronal cell adhesion molecule of the immunoglobulin (Ig) gene family that is implicated in playing a role in the formation of axon connections in the developing nervous system. In human brain, contactin was first identified by amino terminal and peptide sequencing of the lentil-lectin-binding glycoprotein Gp135. We now report the isolation and characterization of cDNA clones encoding human contactin. Human contactin is composed of six C2 Ig-domains and four fibronectin type III (FNIII) repeats and is anchored to the membrane via a glycosyl phosphatidylinositol moiety, as shown by PI-PLC treatment of cells transfected with contactin cDNA and metabolic labeling with [H-3]ethanolamine. At the amino acid level, h-contactin is 78% identical to chick contactin/F11 and 94% to mouse F3. Independent cDNAs encoding two putative contactin isoforms were isolated and sequenced: h-contactin 1 cDNA encodes a protein with the amino-terminal sequence of purified Gp135, while the putative h-contactin 2 gene has a deletion of 33 nucleotides that predicts a protein with a shortened amino terminus. Northern analysis with a probe common for both isoforms detects one mRNA species of approximately 6.6 kb in adult human brain. Fluorescence in situ hybridization maps the gene for human contactin to human chromosome 12q11-q12. The h-contactin gene locus is thus in close proximity to homeobox 3, integrin subunit alpha 5, several proto-oncogene genes, a chromosomal breakpoint associated with various tumors, and the gene locus for Stickler syndrome. The cloning of human contactin now permits the study of its role in disorders of the human nervous system. (C) 1994 Academic Press, Inc.