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Titolo:
PHYSICAL LINKAGE OF THE HUMAN GROWTH-HORMONE GENE-CLUSTER AND THE SKELETAL-MUSCLE SODIUM-CHANNEL ALPHA-SUBUNIT GENE (SCN4A) ON CHROMOSOME-17
Autore:
BENNANIBAITI IM; JONES BK; LIEBHABER SA; COOKE NE;
Indirizzi:
UNIV PENN,SCH MED,DEPT GENET,700 CLIN RES BLDG,415 CURIE BLVD PHILADELPHIA PA 19104 UNIV PENN,SCH MED,DEPT GENET PHILADELPHIA PA 19104 UNIV PENN,SCH MED,DEPT MED PHILADELPHIA PA 19104 UNIV PENN,SCH MED,HOWARD HUGHES MED INST PHILADELPHIA PA 19104
Titolo Testata:
Genomics
fascicolo: 3, volume: 29, anno: 1995,
pagine: 647 - 652
SICI:
0888-7543(1995)29:3<647:PLOTHG>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
HYPERKALEMIC PERIODIC PARALYSIS; HUMAN CHORIONIC SOMATOMAMMOTROPIN; PARAMYOTONIA-CONGENITA; GENOMIC STRUCTURE; GH DEFICIENCY; ION CHANNELS; LOCUS; MUTATIONS; SEQUENCES; LOCALIZATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
48
Recensione:
Indirizzi per estratti:
Citazione:
I.M. Bennanibaiti et al., "PHYSICAL LINKAGE OF THE HUMAN GROWTH-HORMONE GENE-CLUSTER AND THE SKELETAL-MUSCLE SODIUM-CHANNEL ALPHA-SUBUNIT GENE (SCN4A) ON CHROMOSOME-17", Genomics, 29(3), 1995, pp. 647-652

Abstract

The human growth hormone (GH) locus, a cluster of five genes, spans 47 kb on chromosome 17q22-q24. The skeletal muscle sodium channel cu-subunit locus (SCN4A), a 32.5-kb gene, has previously been mapped to 17q23.1-q25.3. We demonstrate that both the GH gene cluster and the SCN4Agene colocalize to a single 525-kb yeast artificial chromosome (YAC) containing DNA derived from human chromosome 17. Restriction maps of two cosmids encompassing the 5' terminus of the GH locus and including up to 40 kb of 5'-flanking sequences demonstrate a perfect 20-kb overlap with previously published maps of the SCN4A gene. A 720-bp DNA segment, encompassing sequences 32.3 to 31.6 kb 5' to GH, was sequenced and found to be identical to exon 14 of SCN4A. These data demonstrate that the SCN4A gene and the entire GH gene cluster are contained within 100 kb on chromosome 17 and are separated by only 21.5 kb. Remarkably,this physical linkage between GH and SCN4A also reveals that multipleelements critical to tissue-specific transcriptional activation of the GH gene lie within the SCN4A gene. (C) 1995 Academic Press, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 19:16:18