title: Molecular variation of human HSP90alpha and HSP90beta genes in Caucasians.
abstract: 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, HSP90alpha (HSPCAL4, 14q31.3) and HSP90beta (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 hsp90alpha protein.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California, USA. g.passarino@unical.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Passarino
authors.forename: Gianpiero L
authors.initials: GL
authors.lastname: Cavalleri
authors.forename: Rosalia
authors.initials: R
authors.lastname: Stecconi
authors.forename: Claudio
authors.initials: C
authors.lastname: Franceschi
authors.forename: Katia
authors.initials: K
authors.lastname: Altomare
authors.forename: Serena
authors.initials: S
authors.lastname: Dato
authors.forename: Valentina
authors.initials: V
authors.lastname: Greco
authors.forename: L
authors.initials: L
authors.lastname: Luca Cavalli Sforza
authors.forename: Peter A
authors.initials: PA
authors.lastname: Underhill
authors.forename: Giovanna
authors.initials: G
authors.lastname: de Benedictis
mesh_terms: D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D018841:HSP90 Heat-Shock Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D016254:Mutagenesis, Insertional; D009154:Mutation; D017354:Point Mutation; D020033:Protein Isoforms / Q000235:genetics; D044465:White People / Q000235:genetics*
chemical_list: D018841:HSP90 Heat-Shock Proteins; D020033:Protein Isoforms; D004247:DNA