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https://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 |
DOI: | 10.1093/hmg/ddl456 |
Published version: | http://dx.doi.org/10.1093/hmg/ddl456 |
Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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