Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3

被引：11

作者：

Chen, HM

Bouras, C

Antonarakis, SE

机构：

[1] CTR MED UNIV GENEVA, DIV MED GENET, CH-1211 GENEVA, SWITZERLAND

[2] UNIV GENEVA, SCH MED, DEPT GENET & MICROBIOL, LAB HUMAN MOL GENET, CH-1211 GENEVA, SWITZERLAND

[3] UNIV HOSP GENEVA, DEPT NEUROPSYCHIAT, GENEVA, SWITZERLAND

[4] HOP CANTONAL GENEVA, DIV MED GENET, GENEVA, SWITZERLAND

来源：

HUMAN GENETICS | 1996年 / 98卷 / 06期

关键词：

D O I：

10.1007/s004390050282

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Exon trapping was used to identify fragments of genes on human chromosome 21. One trapped sequence, hmc18h10 (GenBank no. X88329), showed homology to a sequence (GenBank no. S65225) that includes the first three codons of the rat PEP-19 gene and 5' untranslated leader region. We have cloned the corresponding cDNA for a human homolog of the rat PEP-19 gene and mapped it to the region between markers ERG and D21S56 of chromosome 21q22.2-q22.3. Rat PEP-19 is a neuron-specific polypeptide expressed in several regions of the central nervous system. It serves as a cell-specific marker in Purkinje cells and its expression is developmentally regulated in the cerebellum, but its precise function is unknown. It is also presently unknown whether overexpression of the PEP-19 gene is involved in certain phenotypes of Down syndrome.

引用

页码：672 / 677

页数：6

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