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

Luigi D. Notarangelo, Ornella Parolini, Alberto Albertini, Marzia Duse, Evelina Mazzolari, Alessandro Plebani, Giovanna Camerino, Alberto G. Ugazio

Research output: Contribution to journalArticle

Abstract

The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27β), 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 M27β 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.

Original languageEnglish
Pages (from-to)130-134
Number of pages5
JournalHuman Genetics
Volume88
Issue number2
DOIs
Publication statusPublished - Dec 1991

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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