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Large-Scale Population Study of Human Cell Lines Indicates that Dosage Compensation Is Virtually Complete
Author(s) -
Colette M. Johnston,
F.L. Lovell,
Daniel Leongamornlert,
Barbara E. Stranger,
Emmanouil T. Dermitzakis,
Mark T. Ross
Publication year - 2008
Publication title -
plos genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.587
H-Index - 233
eISSN - 1553-7404
pISSN - 1553-7390
DOI - 10.1371/journal.pgen.0040009
Subject(s) - dosage compensation , biology , gene dosage , genetics , chromosome , x inactivation , x chromosome , gene , phenotype , gene silencing , population , gene expression , demography , sociology
X chromosome inactivation in female mammals results in dosage compensation of X-linked gene products between the sexes. In humans there is evidence that a substantial proportion of genes escape from silencing. We have carried out a large-scale analysis of gene expression in lymphoblastoid cell lines from four human populations to determine the extent to which escape from X chromosome inactivation disrupts dosage compensation. We conclude that dosage compensation is virtually complete. Overall expression from the X chromosome is only slightly higher in females and can largely be accounted for by elevated female expression of approximately 5% of X-linked genes. We suggest that the potential contribution of escape from X chromosome inactivation to phenotypic differences between the sexes is more limited than previously believed.

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