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

详细信息    查看全文

• 作者：Michel Guipponi ; Marie-Laure Yaspo ; Lisa Riesselman ; Haiming Chen ; Albertina De Sario ; Gérard Roizès and Stylianos E. Antonarakis
• 刊名：Human Genetics
• 出版年：2000
• 出版时间：August 2000
• 年：2000
• 卷：107
• 期：2
• 页码：127-131
• 全文大小：97 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Internal Medicine
  Metabolic Diseases
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1203

文摘

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.