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Reference: Maugeri, N, Radhakrishnan, J and Knight, JC, (2010). Genetic determinants of HSP70 gene expression following heat shock. Human molecular genetics, 19 (24), 4939-4947.Citable link to this page:


Genetic determinants of HSP70 gene expression following heat shock.

Abstract: The regulation of heat shock protein expression is of significant physiological and pathophysiological significance. Here we show that genetic diversity is an important determinant of heat shock protein 70 expression involving local, likely cis-acting, polymorphisms. We define DNA sequence variation for the highly homologous HSPA1A and HSPA1B genes in the major histocompatibility complex on chromosome 6p21 and establish quantitative and specific assays for determining transcript abundance. We show for lymphoblastoid cell lines established from individuals of African ancestry that following heat shock, expression of HSPA1B is associated with rs400547 (P 3.88 × 10(-8)) and linked single nucleotide polymorphisms (SNPs) located 62-93 kb telomeric to HSPA1B. This association was found to explain 31 and 29% of the variance in HSPA1B expression following heat shock or in resting cells, respectively. The associated SNPs show marked variation in minor allele frequency among populations, being more common in individuals of African ancestry, and are located in a region showing population-specific haplotypic block structure. The work illustrates how analysis of a heritable induced expression phenotype can be highly informative in defining functionally important genetic variation.

Peer Review status:Peer reviewedPublication status:PublishedVersion:Publisher's version Funder: Wellcome Trust   Notes:Copyright © 2010 Narelle Maugeri, Jayachandran Radhakrishnan and Julian C. Knight. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Bibliographic Details

Publisher: Oxford University Press

Publisher Website:

Journal: Human molecular geneticssee more from them

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Issue Date: 2010-12


Urn: uuid:1b929f92-081d-4c66-95e0-08c33f2c4c29

Source identifier: 83817

Eissn: 1460-2083


Issn: 0964-6906 Item Description

Type: Journal article;

Language: eng

Version: Publisher's versionKeywords: Humans Cell Line Heat-Shock Response Base Sequence Genotype Quantitative Trait Loci Gene Expression Regulation Genetic Variation Polymorphism, Single Nucleotide HSP70 Heat-Shock Proteins Tiny URL: pubs:83817


Autor: Maugeri, N - institutionUniversity of Oxford Oxford, MSD, Clinical Medicine, WTC Human Genetics - - - Radhakrishnan, J - institut



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