Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages |
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Authors: | Luigi D Notarangelo Ornella Parolini Alberto Albertini Marzia Duse Evelina Mazzolari Alessandro Plebani Giovanna Camerino Alberto G Ugazio |
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Institution: | (1) Dipartimento Materno-Infantile e di Tecnologie Biomediche, Università di Brescia, Brescia, Italy;(2) Istituto di Biologia Generale e Genetica Medica, Università di Pavia, C.P. 217, I-27100 Pavia, Italy;(3) Department of Pediatrics, University of Brescia, c/o Spedali Civili, I-25123 Brescia, Italy |
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Abstract: | Summary The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27), 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 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. |
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