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Titolo:
Nonrandom X inactivation and selection of fragile X full mutation in fetalfibroblasts
Autore:
Sun, YJ; Baumer, A;
Indirizzi:
City Hope Natl Med Ctr, Beckman Res Inst, Div Mol Med, Duarte, CA 91010 USA City Hope Natl Med Ctr Duarte CA USA 91010 Mol Med, Duarte, CA 91010 USA Univ Zurich, Inst Med Genet, Zurich, Switzerland Univ Zurich Zurich Switzerland ich, Inst Med Genet, Zurich, Switzerland
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 86, anno: 1999,
pagine: 162 - 164
SICI:
0148-7299(19990910)86:2<162:NXIASO>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
FMR1 GENE; DELAYED REPLICATION; CHROMOSOMES; FEMALES;
Keywords:
fragile X; full mutation; fetal fibroblasts; clonal selection; X inactivation; activation ratio;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Sun, YJ City Hope Natl Med Ctr, Beckman Res Inst, Div Mol Med, 1500 E Duarte Rd, Duarte, CA 91010 USA City Hope Natl Med Ctr 1500 E Duarte Rd Duarte CA USA 91010 10 USA
Citazione:
Y.J. Sun e A. Baumer, "Nonrandom X inactivation and selection of fragile X full mutation in fetalfibroblasts", AM J MED G, 86(2), 1999, pp. 162-164

Abstract

In the fragile X female carriers the degree of cognitive impairment appears to be correlated with activation status of the X chromosome bearing the expanded trinucleotide repeat in the promoter of the FMR1 gene. In this study we asked if the deviations from the primarily random pattern of X inactivation are related to the selection which is thought to occur against cells carrying the fragile X full mutation (FM) on the active X chromosome, A fibroblast culture derived from a 20-week FM female fetus was serially passaged. The activation ratio (AR) of the culture increased from 0.68 to 0.92 between passages 2 and 9, All higher passage cells (up to 34 passages) displayan AR of 1.0, indicating complete absence of cells in which the normal X chromosome would be inactivated. Of 29 clones established from the fetal culture with AR of 0.8, 28 had no visible 5.2-kb band on Southern blots indicating that these 28 clones consisted entirely of cells with FM on their inactive X chromosome, Only a single clone carried the FM on its active X chromosome. The figure of 1 of 29 is much lower than our expectation based on the AR of mass culture, Therefore cloning and serial cultivation indicate thepossibility of selection depending on the activation status of the expanded X chromosome in fetal FM female fibroblasts, (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/04/20 alle ore 02:33:29