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dc.contributor.authorMcRae, A.en
dc.contributor.authorMatigian, N.en
dc.contributor.authorVadlamudi, L.en
dc.contributor.authorMulley, J.en
dc.contributor.authorMowry, B.en
dc.contributor.authorMartin, N.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorHayward, N.en
dc.contributor.authorVisscher, P.en
dc.identifier.citationHuman Molecular Genetics, 2007; 16(4):364-373en
dc.descriptionCopyright © The Author 2006. Published by Oxford University Press. All rights reserved.en
dc.description.abstractThe 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.en
dc.description.statementofresponsibilityAllan F. McRae, Nicholas A. Matigian, Lata Vadlamudi, John C. Mulley, Bryan Mowry, Nicholas G. Martin, Sam F. Berkovic, Nicholas K. Hayward and Peter M. Visscheren
dc.publisherOxford Univ Pressen
dc.subjectLymphocytes; 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; Maleen
dc.titleReplicated effects of sex and genotype on gene expression in human lymphoblastoid cell linesen
dc.typeJournal articleen
dc.provenanceHuman Molecular Genetics Advance Access originally published online on December 12, 2006en
Appears in Collections:Molecular and Biomedical Science publications

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