Cloning the cDNA of human PWP2 which encodes a protein with WD repeats and maps to 21q22.3

被引：12

作者：

Lalioti, MD

Chen, HM

Rossier, C

Shafaatian, R

Reid, JD

Antonarakis, SE

机构：

[1] UNIV GENEVA,SCH MED,DEPT GENET & MICROBIOL,CH-1211 GENEVA 4,SWITZERLAND

[2] HOP CANTONAL GENEVA,DIV MED GENET,CH-1211 GENEVA 4,SWITZERLAND

[3] GLAXO INST MOLEC BIOL SA,CH-1211 GENEVA,SWITZERLAND

来源：

GENOMICS | 1996年 / 35卷 / 02期

关键词：

D O I：

10.1006/geno.1996.0363

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We have used exon trapping to contribute to the development of the transcription map of chromosome 21q22.3 and to clone the genes responsible for disorders that map in the 21q22.3 region. Polypeptides deduced from three trapped sequences that map near PFKL showed homology to the yeast PWP2 gene. The full-length coding region of a human homologue of this yeast gene was subsequently cloned from human infant brain and fetal kidney cDNA libraries. The 919-codon open reading frame of human PWP2 belongs to the family of genes that contain tryptophan-aspartate (WD) repeats; other than its yeast counterpart, PWP2 is most closely homologous to the beta subunits of the trimeric G-protein family and may putatively be involved in signal transduction. Northern blot analysis revealed that the PWP2 gene is expressed in all fetal and adult human tissues examined (3.4 kb mRNA species). This single-copy gene maps approximately 200 kb proximal to PFKL in chromosome 21q22.3 between markers EHOC-1 and D21S25. (C) 1996 Academic Press, Inc.

引用

页码：321 / 327

页数：7

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