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Titolo:
Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene
Autore:
Ikegawa, S; Masuno, M; Kumano, Y; Okawa, A; Isomura, M; Koyama, M; Okui, K; Makita, Y; Sasaki, M; Kohdera, U; Okuda, M; Koyama, H; Ohashi, H; Tajiri, H; Imaizumi, K; Nakamura, Y;
Indirizzi:
Univ Tokyo, Inst Med Sci, Lab Genome Med, Ctr Human Genome,Minato Ku, Tokyo 108, Japan Univ Tokyo Tokyo Japan 108 Ctr Human Genome,Minato Ku, Tokyo 108, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr Yokohama Kanagawa Japan hama, Kanagawa, Japan Asahikawa Med Coll, Dept Pediat, Asahikawa, Hokkaido 078, Japan Asahikawa Med Coll Asahikawa Hokkaido Japan 078 kawa, Hokkaido 078, Japan Urawa Municipal Hosp, Dept Pediat, Urawa, Saitama, Japan Urawa Municipal Hosp Urawa Saitama Japan t Pediat, Urawa, Saitama, Japan Kansai Med Univ, Dept Pediat, Moriguchi, Osaka 570, Japan Kansai Med UnivMoriguchi Osaka Japan 570 at, Moriguchi, Osaka 570, Japan Wakayama Rosai Hosp, Dept Pediat, Wakayama, Japan Wakayama Rosai Hosp Wakayama Japan i Hosp, Dept Pediat, Wakayama, Japan Kinan Gen Hosp, Dept Pediat, Tanabe, Japan Kinan Gen Hosp Tanabe JapanKinan Gen Hosp, Dept Pediat, Tanabe, Japan Saitama Childrens Med Ctr, Div Med Genet, Iwatsuki, Saitama, Japan SaitamaChildrens Med Ctr Iwatsuki Saitama Japan watsuki, Saitama, Japan Osaka Univ, Fac Med, Dept Pediat, Osaka, Japan Osaka Univ Osaka JapanOsaka Univ, Fac Med, Dept Pediat, Osaka, Japan
Titolo Testata:
CLINICAL GENETICS
fascicolo: 6, volume: 55, anno: 1999,
pagine: 466 - 472
SICI:
0009-9163(199906)55:6<466:COTBAW>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
EXOCRINE PANCREATIC INSUFFICIENCY; CAMPOMELIC DYSPLASIA; MUSCULAR-DYSTROPHY; MOLECULAR ANALYSIS; DIGEORGE-SYNDROME; SEX REVERSAL; HUMAN DNA; SEQUENCES; REGION; REARRANGEMENT;
Keywords:
candidate gene; cloning; Shwachman syndrome; translocation breakpoint;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Nakamura, Y Univ Tokyo, Inst Med Sci, Lab Genome Med, Ctr Human Genome,Minato Ku, 4-6-1 Shirokanedai, Tokyo 108, Japan Univ Tokyo 4-6-1 Shirokanedai Tokyo Japan 108 okyo 108, Japan
Citazione:
S. Ikegawa et al., "Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene", CLIN GENET, 55(6), 1999, pp. 466-472

Abstract

Shwachman syndrome is an autosomal-recessive disorder characterized by exocrine pancreatic insufficiency, bone-marrow dysfunction, and metaphyseal chondrodysplasia. A de novo balanced translocation was recently documented ina patient with this disease. Toward isolating the gene(s) responsible for Shwachman syndrome, we cloned and sequenced the translocation breakpoints in the DNA of this patient. The nucleotide sequences around the breakpoints contained neither repetitive elements nor motifs reported to be implicated in recombination events, although we did detect gains or losses of oligonucleotides at the translocation junctions. By large-scale genomic sequencing and in silico gene trapping. we identified two novel transcripts in the vicinity of the breakpoints that might represent candidate genes for Shwachmansyndrome, one on chromosome 6 and the other on chromosome 12. The gene on chromosome 12 was actually disrupted by the translocation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 02:45:08