Genomic structure of a copy of the human TPTE gene which encompasses 87 kh on the short arm of chromosome 21

被引：20

作者：

Guipponi, H

Yaspo, ML

Riesselman, L

Chen, HM

De Sario, A

Roizès, S

Antonarakis, SE ^{[1
]}

机构：

[1] Univ Geneva, Sch Med, Div Med Genet, CH-1211 Geneva, Switzerland

[2] Univ & Cantonal Hosp, CH-1211 Geneva 4, Switzerland

[3] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[4] Inst Biol, CNRS, UPR 1142, Montpellier, France

来源：

HUMAN GENETICS | 2000年 / 107卷 / 02期

关键词：

D O I：

10.1007/s004390000343

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The testis-expressed human TPTE is a putative transmembrane tyrosine phosphatase, probably involved in signal transduction pathways of the endocrine and/or the spermatogenetic function of the testis. TPTE was mapped to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. It is unknown which of the TPTE copies are transcribed, contain intronic sequences, and/or have open reading frames. Here, in silico analysis of the genomic sequence of human chromosome 21 allowed the determination of the genomic structure of a copy of the TPTE gene. This copy consists of 24 exons and spans approximately 87 kb. The mapping position of this copy of TPTE on the short arm of chromosome 21 was confirmed by FISH using the BAC 15L0C0 clone as a probe that contains almost the entire TPTE gene. This is the first description of the genomic sequence of a non-RNR gene on the short arm of human acrocentric chromosomes.

引用

页码：127 / 131

页数：5

共 12 条

[1] A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y [J].