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Molecular variation of human HSP90α and HSP90β genes in Caucasians
Author(s) -
Passarino Giuseppe,
Cavalleri Gianpiero L.,
Stecconi Rosalia,
Franceschi Claudio,
Altomare Katia,
Dato Serena,
Greco Valentina,
Luca Cavalli Sforza L.,
Underhill Peter A.,
de Benedictis Giovanna
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9141
Subject(s) - biology , gene , genetics , missense mutation , exon , human genome , genetic variation , mutation , hsp90 , heat shock protein , coding region , genome
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, HSP90α (HSPCAL4, 14q31.3) and HSP90β (HSPCB, 6p12). A total of 18 and 11 variants were found in the HSP90‐α and ‐β 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 hsp90α protein. © 2003 Wiley‐Liss, Inc. © 2003 Wiley‐Liss, Inc.