Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/42973
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Type: Journal article
Title: Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines
Author: McRae, A.
Matigian, N.
Vadlamudi, L.
Mulley, J.
Mowry, B.
Martin, N.
Berkovic, S.
Hayward, N.
Visscher, P.
Citation: Human Molecular Genetics, 2007; 16(4):364-373
Publisher: Oxford Univ Press
Issue Date: 2007
ISSN: 0964-6906
1460-2083
Statement of
Responsibility: 
Allan F. McRae, Nicholas A. Matigian, Lata Vadlamudi, John C. Mulley, Bryan Mowry, Nicholas G. Martin, Sam F. Berkovic, Nicholas K. Hayward and Peter M. Visscher
Abstract: The expression level for 15 887 transcripts in lymphoblastoid cell lines from 19 monozygotic twin pairs (10 male, 9 female) were analysed for the effects of genotype and sex. On an average, the effect of twin pairs explained 31% of the variance in normalized gene expression levels, consistent with previous broad sense heritability estimates. The effect of sex on gene expression levels was most noticeable on the X chromosome, which contained 15 of the 20 significantly differentially expressed genes. A high concordance was observed between the sex difference test statistics and surveys of genes escaping X chromosome inactivation. Notably, several autosomal genes showed significant differences in gene expression between the sexes despite much of the cellular environment differences being effectively removed in the cell lines. A publicly available gene expression data set from the CEPH families was used to validate the results. The heritability of gene expression levels as estimated from the two data sets showed a highly significant positive correlation, particularly when both estimates were close to one and thus had the smallest standard error. There was a large concordance between the genes significantly differentially expressed between the sexes in the two data sets. Analysis of the variability of probe binding intensities within a probe set indicated that results are robust to the possible presence of polymorphisms in the target sequences.
Keywords: Lymphocytes; Cell Line, Transformed; Humans; Cell Transformation, Viral; Oligonucleotide Array Sequence Analysis; Family; Gene Expression Regulation; Twins, Monozygotic; Sex Characteristics; Genotype; Databases, Factual; Adult; Middle Aged; Female; Male
Description: Copyright © The Author 2006. Published by Oxford University Press. All rights reserved.
Provenance: Human Molecular Genetics Advance Access originally published online on December 12, 2006
RMID: 0020070183
DOI: 10.1093/hmg/ddl456
Appears in Collections:Molecular and Biomedical Science publications

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