Large-scale population study of human cell lines indicates that dosage compensation is virtually complete

PLoS Genet. 2008 Jan;4(1):e9. doi: 10.1371/journal.pgen.0040009. Epub 2007 Dec 13.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Chromosomes, Human, X
  • Chromosomes, Human, Y
  • Dosage Compensation, Genetic*
  • Female
  • Gene Expression
  • Genes, X-Linked
  • Genetics, Population*
  • Haplotypes
  • Heterozygote
  • Humans
  • Lymphocytes / cytology*
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • X Chromosome Inactivation