Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages

Hum Genet. 1991 Dec;88(2):130-4. doi: 10.1007/BF00206059.

Abstract

The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27 beta), in several cell lineages derived from females belonging to a pedigree with X-linked immunodeficiency with hyper-IgM (HIGM1). Non-random X-chromosome inactivation was demonstrated in T cells, B cells, and neutrophils, but not in fibroblasts, of obligate carriers, suggesting that different hematopoietic cell lineages are primarily involved in HIGM1. Preferential inactivation of the paternally derived X-chromosome was demonstrated by analysis of segregation of the alleles defined by the pSPT-PGK and M27 beta probes. The possibility that the HIGM1 mutation may confer a proliferative and/or differential advantage to hematopoietic precursors carrying the mutated allele on the active X-chromosome is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Lymphocytes
  • DNA Probes / genetics
  • Dosage Compensation, Genetic*
  • Female
  • Genetic Linkage / genetics*
  • Heterozygote
  • Humans
  • Hypergammaglobulinemia / genetics*
  • Immunoglobulin M / blood*
  • Immunologic Deficiency Syndromes / genetics*
  • Male
  • Pedigree
  • X Chromosome*

Substances

  • DNA Probes
  • Immunoglobulin M