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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

11 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)130-134
Numero di pagine5
RivistaHuman Genetics
Volume88
DOI
Stato di pubblicazionePubblicato - 1991

Keywords

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

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