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Titolo:
Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin
Autore:
Kobayashi, K; Sasaki, J; Kondo-Iida, E; Fukuda, Y; Kinoshita, M; Sunada, Y; Nakamura, Y; Toda, T;
Indirizzi:
Univ Tokyo, Inst Med Sci, Ctr Human Genet, Lab Genome Med,Minato Ku, Tokyo1088639, Japan Univ Tokyo Tokyo Japan 1088639 Genome Med,Minato Ku, Tokyo1088639, Japan Osaka Univ, Grad Sch Med, Biomed Res Ctr, Dept Med Genet,Div Clin Genet, Suita, Osaka 5650871, Japan Osaka Univ Suita Osaka Japan 5650871 n Genet, Suita, Osaka 5650871, Japan Univ Tokyo, Grad Sch Med, Dept Pediat, Bunkyo Ku, Tokyo 1130033, Japan Univ Tokyo Tokyo Japan 1130033 t Pediat, Bunkyo Ku, Tokyo 1130033, Japan Otsuka Pharmaceut Co Ltd, Otsuka Assay Labs, Gene Anal Ctr, Gene Res Sect,Tokushima 7710195, Japan Otsuka Pharmaceut Co Ltd Tokushima Japan 7710195okushima 7710195, Japan Kawasaki Med Sch, Dept Neurol, Kurashiki, Okayama 7010192, Japan Kawasaki Med Sch Kurashiki Okayama Japan 7010192 , Okayama 7010192, Japan Univ Tokyo, Inst Med Sci, Ctr Human Genome, Mol Med Lab,Minato Ku, Tokyo 1088639, Japan Univ Tokyo Tokyo Japan 1088639 l Med Lab,Minato Ku, Tokyo 1088639, Japan
Titolo Testata:
FEBS LETTERS
fascicolo: 2-3, volume: 489, anno: 2001,
pagine: 192 - 196
SICI:
0014-5793(20010202)489:2-3<192:SOCGSA>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
FCMD CANDIDATE REGION; LINKAGE-DISEQUILIBRIUM; WALKER-WARBURG;
Keywords:
Fukuyama-type congenital muscular dystrophy; fukutin gene; Fukutin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Toda, T Univ Tokyo, Inst Med Sci, Ctr Human Genet, Lab Genome Med,Minato Ku, 4-6-1Shirokanedai, Tokyo 1088639, Japan Univ Tokyo 4-6-1 Shirokanedai Tokyo Japan 1088639 1088639, Japan
Citazione:
K. Kobayashi et al., "Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin", FEBS LETTER, 489(2-3), 2001, pp. 192-196

Abstract

Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy in combination,vith cerebral cortical dysplasia, Previously, we identified the gene responsible for FCMD, termed fukutin,through positional cloning. In this study, we have sequenced 131 892 bp ofgenomic DNA in the region of the fukutin gene on chromosome 9q31 and obtained its complete genomic structure. The fukutin genomic sequence spans approximately 100 kb and is organized into 10 exons (41-6067 bp) and nine introns (1841-21 460 bp), Using these sequence data, me have identified three novel fukutin mutations in FCMD patients. We have also located a putative TATA box in the flanking 5 ' region and identified numerous alternatively spliced fukutin mRNA transcripts. Analysis of expressed sequence tag clusters within the region revealed two novel genes upstream of the fukutin gene, These data provide fundamental information to support detailed genetic and functional analyses of the fukutin gene. (C) 2001 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 11:58:32