title: Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.
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.
authors.affiliation: Dipartimento Materno-Infantile e di Tecnologie Biomediche, Università di Brescia, Italy.
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: O
authors.initials: O
authors.lastname: Parolini
authors.forename: A
authors.initials: A
authors.lastname: Albertini
authors.forename: M
authors.initials: M
authors.lastname: Duse
authors.forename: E
authors.initials: E
authors.lastname: Mazzolari
authors.forename: A
authors.initials: A
authors.lastname: Plebani
authors.forename: G
authors.initials: G
authors.lastname: Camerino
authors.forename: A G
authors.initials: AG
authors.lastname: Ugazio
mesh_terms: D001402:B-Lymphocytes; D015342:DNA Probes / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000097:blood*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D007075:Immunoglobulin M