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Titolo:
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter
Autore:
Braverman, N; Steel, G; Lin, P; Moser, A; Moser, H; Valle, D;
Indirizzi:
Johns Hopkins Univ, Sch Med, Inst Med Genet, Dept Pediat, Baltimore, MD 21205 USA Johns Hopkins Univ Baltimore MD USA 21205 Pediat, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA Johns Hopkins Univ Baltimore MD USA 21205 d Inst, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Kennedy Krieger Inst, Baltimore, MD 21205 USAJohns Hopkins Univ Baltimore MD USA 21205 r Inst, Baltimore, MD 21205 USA
Titolo Testata:
GENOMICS
fascicolo: 2, volume: 63, anno: 2000,
pagine: 181 - 192
SICI:
0888-7543(20000115)63:2<181:PGSATA>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA; PEROXISOME BIOGENESIS DISORDERS; ACYL-COA OXIDASE; 3-KETOACYL-COA THIOLASE; PTS2 RECEPTOR; GENOMIC ORGANIZATION; TARGETING SIGNAL; PROTEIN; DEFICIENCY; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Valle, D Johns Hopkins Univ, Sch Med, Inst Med Genet, Dept Pediat, 725 N Wolfe St, Baltimore, MD 21205 USA Johns Hopkins Univ 725 N Wolfe St Baltimore MD USA 21205 1205 USA
Citazione:
N. Braverman et al., "PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter", GENOMICS, 63(2), 2000, pp. 181-192

Abstract

We recently reported cloning a cDNA encoding Pex7p, the peroxisomal PTS2 receptor. PEX7 mutations cause the peroxisome biogenesis disorder (PBD) rhizomelic chondrodysplasia punctata (RCDP). In a survey of 44 RCDP probands, we found that one PEX7 allele, L292ter, accounted for 50% of mutant PEX7 genes. Here we report the characterization of the PEX7 structural gene, which spans 102 kb on chromosome 6q21-q22.2 and contains at least 10 exons. In addition to the predominant full-length transcript, we identified eight smaller PEX7 transcripts generated by alternative exon splicing in several tissues. However, none of these splice forms was able to restore PTS2 protein import into peroxisomes when expressed in RCDP fibroblasts nor did they inhibit PTS2 protein import when expressed in normal fibroblasts. To determine whether the high frequency of the L292ter allele is due to a founder effect,we identified five polymorphic markers (four diallelic markers and one CA repeat) spanning the PEX7 gene. We show that all 12 L292ter homozygotes in our patient sample have an identical haplotype at these five sites, consistent with the hypothesis that the L292ter mutation arose once on an ancestral chromosome in the Caucasian population. (C) 2000 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 19:58:46