Molecular Variation of Human HSP90α and HSP90β Genes in Caucasians

被引：31

作者：

Passarino, Giuseppe ^{[1
,2
]}

Cavalleri, Gianpiero L. ^{[1
]}

Stecconi, Rosalia ^{[3
]}

Franceschi, Claudio ^{[3
,4
]}

Altomare, Katia ^{[2
]}

Dato, Serena ^{[2
]}

Greco, Valentina ^{[2
]}

Sforza, L. Luca Cavalli ^{[1
]}

Underhill, Peter A. ^{[1
]}

de Benedictis, Giovanna ^{[2
]}

机构：

[1] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

[2] Univ Calabria, Dept Cell Biol, Arcavacata Di Rende, Italy

[3] INRCA Ancona, Ancona, Italy

[4] Bologna Univ, Dept Expt Pathol, Bologna, Italy

来源：

HUMAN MUTATION | 2003年 / 21卷 / 05期

关键词：

HSPCAL4; HSPCB; heat shock proteins; chaperones; molecular variability; DHPLC; HSP90; SNP;

D O I：

10.1002/humu.9141

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Understanding DNA variation within the human genome is fundamental to the identification and interpretation of genetic components underlying complex traits and diseases. Despite their role in many crucial cellular pathways and their reported involvement in many complex diseases no data are available on the molecular variability of the genes coding for Heat Shock Proteins 90Kda (HSP90). Towards this purpose we have used DHPLC methodology to survey a sample of Caucasians for genetic polymorphisms in the exons and exon-flanking regions of the expressed genes of human HSP90 gene families, HSP90 a (HSPCAL4, 14q31.3) and HSP90 beta ( HSPCB, 6p12). A total of 18 and 11 variants were found in the HSP90-alpha and -beta genes respectively, providing an initial view of human genetic variation in these important genes. Only three of the observed mutations altered the genic product. Interestingly, one of the variations observed was a missense mutation leading to the impairment of the hsp90 alpha protein. (C) 2003 Wiley-Liss, Inc.

引用

页码：554 / 555

页数：5

共 20 条

[1] Characterization of single-nucleotide polymorphisms in coding regions of human genes [J].