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Titolo:
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
Autore:
Dorschner, MO; Sybert, VP; Weaver, M; Pletcher, BA; Stephens, K;
Indirizzi:
Univ Washington, Dept Med, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 ton, Dept Med, Seattle, WA 98195 USA Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Pediat, Newark, NJ 07103 USA Univ Med & Dent New Jersey Newark NJ USA 07103 diat, Newark, NJ 07103 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 1, volume: 9, anno: 2000,
pagine: 35 - 46
SICI:
0964-6906(20000101)9:1<35:NMBACA>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEUROFIBROMATOSIS TYPE-1 GENE; CENTRAL-NERVOUS-SYSTEM; MALIGNANT MYELOID DISORDERS; SOMATIC MOSAICISM; VONRECKLINGHAUSEN NEUROFIBROMATOSIS; HOMOLOGOUS RECOMBINATION; DELETION PATIENTS; HUMAN GENOME; BONE-MARROW; PHENOTYPE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
77
Recensione:
Indirizzi per estratti:
Indirizzo: Dorschner, MO Univ Washington, Dept Med, 1959 NE Pacific St,Room 1-204,MedGenet Box 35772, Seattle, WA 98195 USA Univ Washington 1959 NE Pacific St,Room 1-204,Med Genet Box 35772 Seattle WA USA 98195
Citazione:
M.O. Dorschner et al., "NF1 microdeletion breakpoints are clustered at flanking repetitive sequences", HUM MOL GEN, 9(1), 2000, pp. 35-46

Abstract

Neurofibromatosis type 1 patients with a submicroscopic deletion spanning the NF1 tumor suppressor gene are remarkable for an early age at onset of cutaneous neurofibromas, suggesting the deletion of an additional locus thatpotentiates neurofibromagenesis. Construction of a 3.5 Mb BAC/PAC/YAC contig at chromosome 17q11.2 and analysis of somatic cell hybrids from microdeletion patients showed that 14 of 17 cases had deletions of 1,5 Mb in length. The deletions encompassed the entire 350 kb NF1 gene, three additional genes, one pseudogene and 16 expressed sequence tags (ESTs). In these cases, both proximal and distal breakpoints mapped at chromosomal regions of high identity, termed NF1 REPs, These REPs, or clusters of paralogous loci, are 15-100 kb and harbor at least four ESTs and an expressed SH3GL pseudogene. The remaining three patients had at least one breakpoint outside an NF1REP element; one had a smaller deletion thereby narrowing the critical region harboring the putative locus that exacerbates neurofibroma development to 1 Mb. These data show that the likely mechanism of NF1 microdeletion is homologous recombination between NF1REPs on sister chromatids, NF1 microdeletionis the first REP-mediated rearrangement identified that results in loss ofa tumor suppressor gene. Therefore, in addition to the germline rearrangements reported here, NF1REP-mediated somatic recombination could be an important mechanism for the loss of heterozygosity at NF1 in tumors of NF1 patients.

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Documento generato il 30/09/20 alle ore 09:13:24