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EnglishThe 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.
Notarangelo, L. D., Parolini, O., Albertini, A., Duse, M., Mazzolari, E., Plebani, A., Camerino, G., Ugazio, A. G., Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages, <<HUMAN GENETICS>>, 1991; 88 (2): 130-134. [doi:10.1007/BF00206059] [http://hdl.handle.net/10807/92582]
| Autori: | ||
| Titolo: | Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1007/BF00206059 | |
| Data di pubblicazione: | 1991 | |
| 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: | Inglese | |
| Rivista: | ||
| Citazione: | Notarangelo, L. D., Parolini, O., Albertini, A., Duse, M., Mazzolari, E., Plebani, A., Camerino, G., Ugazio, A. G., Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages, <<HUMAN GENETICS>>, 1991; 88 (2): 130-134. [doi:10.1007/BF00206059] [http://hdl.handle.net/10807/92582] | |
| Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |
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