Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines

McRae, A. F., Matigian, N. A., Vadlamudi, L., Mulley, J. C., Mowry, B., Martin, N. G., Berkovic, S. F., Hayward, N. K. and Visscher, P. M. (2007) Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines. Human Molecular Genetics, 16 4: 364-373. doi:10.1093/hmg/ddl456

Author McRae, A. F.
Matigian, N. A.
Vadlamudi, L.
Mulley, J. C.
Mowry, B.
Martin, N. G.
Berkovic, S. F.
Hayward, N. K.
Visscher, P. M.
Title Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 0964-6906
Publication date 2007-02-01
Year available 2006
Sub-type Article (original research)
DOI 10.1093/hmg/ddl456
Open Access Status Not yet assessed
Volume 16
Issue 4
Start page 364
End page 373
Total pages 10
Place of publication Oxford, U.K.
Publisher Oxford University Press
Language eng
Subject 1103 Clinical Sciences
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.
Keyword Adult
Cell Line, Transformed
Cell Transformation, Viral
Databases, Factual
Gene Expression Regulation
Middle Aged
Oligonucleotide Array Sequence Analysis
Sex Characteristics
Twins, Monozygotic
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ
Additional Notes Published on-line December, 2006 but not claimed in 2007 collection.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
2008 Higher Education Research Data Collection
School of Medicine Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 22 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 22 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Mon, 03 Mar 2008, 21:26:11 EST