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人TrkC(NTRK3)cDNA的分子克隆、染色体定位及剪接变体证据

Molecular cloning of the cDNA for human TrkC (NTRK3), chromosomal assignment, and evidence for a splice variant.

作者信息

McGregor L M, Baylin S B, Griffin C A, Hawkins A L, Nelkin B D

机构信息

Oncology Center, Johns Hopkins Medical Institutions, Baltimore, Maryland 21231.

出版信息

Genomics. 1994 Jul 15;22(2):267-72. doi: 10.1006/geno.1994.1383.

DOI:10.1006/geno.1994.1383
PMID:7806211
Abstract

TrkC is a receptor tyrosine kinase that is activated by neurotrophin-3, a factor important in the development of certain areas of the central nervous system. We have cloned and sequenced the human trkC cDNA and found that the predicted amino acid sequence is 97 to 98% homologous to the rat and porcine trkC sequences, respectively. The rat trkC has several isoforms due to alternative splicing in the tyrosine kinase domain. We cloned one human splice variant that has a nucleic acid sequence identical to the rat isoform with an insert of 14 amino acids. The human trkC cDNA also has a (CGG)n repeat in the 5'-untranslated region. This sequence was not highly polymorphic in that 79 of 80 chromosomes examined had eight repeats, while 1 chromosome had four repeats. By PCR analysis of a somatic cell hybrid panel and fluorescence in situ hybridization with the cDNA clone, human trkC was mapped to chromosome 15q24-q25.

摘要

TrkC是一种受体酪氨酸激酶,由神经营养因子-3激活,神经营养因子-3是中枢神经系统某些区域发育中的一个重要因子。我们已克隆并测序了人类trkC cDNA,发现预测的氨基酸序列分别与大鼠和猪的trkC序列有97%至98%的同源性。由于酪氨酸激酶结构域的可变剪接,大鼠trkC有几种异构体。我们克隆了一种人类剪接变体,其核酸序列与大鼠异构体相同,插入了14个氨基酸。人类trkC cDNA在5'-非翻译区也有一个(CGG)n重复序列。该序列的多态性不高,在检测的80条染色体中,79条有8个重复序列,1条有4个重复序列。通过对体细胞杂交板进行PCR分析以及用cDNA克隆进行荧光原位杂交,将人类trkC定位于染色体15q24-q25。

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