Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

Eur J Hum Genet. 1998 Nov-Dec;6(6):552-62. doi: 10.1038/sj.ejhg.5200255.

Abstract

We have analyzed X-chromosome inactivation patterns in lymphocytes of 264 females from 38 families not known to have any genetic disease. Quantitative measures of X-inactivation showed strong sister-sister correlation in the degree of departure from equal numbers of cells having each X chromosome active, suggesting heritability of this phenotype. Strong sister-sister correlation was also observed for the fraction of cells having the same parent's X chromosome active, consistent with the possibility that this trait might be controlled by a cis-acting, X-linked gene. We used a sib-pair approach to determine whether X-inactivation phenotype was linked to loci in any region of the X chromosome. Both quantitative and discrete measures of X-inactivation phenotype showed evidence of linkage to markers in the region of the X inactivation center (XIC). The quantitative measure of X-inactivation phenotype used in our study also showed linkage to loci at Xq25-q26. This study provides the first evidence for X-linked inheritance of X chromosome inactivation phenotype derived from linkage analysis in phenotypically normal human families.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosome Mapping*
  • DNA Primers
  • Dosage Compensation, Genetic*
  • Female
  • Genetic Linkage*
  • Humans
  • Male
  • Mothers
  • Nuclear Family
  • Pedigree
  • Quantitative Trait, Heritable
  • X Chromosome*

Substances

  • DNA Primers