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Titolo:
CHROMOSOMAL LOCALIZATION OF THE HUMAN ENVOPLAKIN GENE (EVPL) TO THE REGION OF THE TYLOSIS ESOPHAGEAL CANCER GENE (TOCG) ON 17Q25
Autore:
RUHRBERG C; WILLIAMSON JA; SHEER D; WATT FM;
Indirizzi:
IMPERIAL CANC RES FUND,KERATINOCYTE LAB,44 LINCOLNS INN FIELDS LONDONWC2A 3PX ENGLAND IMPERIAL CANC RES FUND,KERATINOCYTE LAB LONDON WC2A 3PX ENGLAND IMPERIAL CANC RES FUND,HUMAN CYTOGENET LAB LONDON WC2A 3PX ENGLAND
Titolo Testata:
Genomics
fascicolo: 3, volume: 37, anno: 1996,
pagine: 381 - 385
SICI:
0888-7543(1996)37:3<381:CLOTHE>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
PALMOPLANTAR KERATODERMA; CELL; MUTATIONS; TRANSLOCATION; KERATINOCYTE; HYBRIDS; MAP; ARM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
C. Ruhrberg et al., "CHROMOSOMAL LOCALIZATION OF THE HUMAN ENVOPLAKIN GENE (EVPL) TO THE REGION OF THE TYLOSIS ESOPHAGEAL CANCER GENE (TOCG) ON 17Q25", Genomics, 37(3), 1996, pp. 381-385

Abstract

Envoplakin is a membrane-associated precursor of the epidermal cornified envelope. Envoplakin is homologous to desmoplakin I and desmoplakin II (DPI/ II), bullous pemphigoid antigen 1 (BPAG1), and plectin and is proposed to link desmosomes and keratin filaments to the cornified envelope. We describe the isolation of cosmids and yeast artificial chromosomes containing the complete human envoplakin gene (EVPL) and show, by analysis of somatic cell hybrids and chromosomal in situ hybridisation, that the envoplakin gene, unlike the genes encoding BPAG1 and DPI/III, maps to 17q25 and is physically linked to D17S1603. This sequence-tagged site segregates with the autosomal dominant human disease focal nonepidermolytic palmoplantar keratosis (NEPKK; ''tylosis''), which is associated with an increased risk of oesophageal cancer. The chromosomal localisation of the envoplakin gene, the homology of the encoded protein to keratin-binding proteins, and its expression in epidermal and oesophageal keratinocytes all raise the possibility that loss of envoplakin function could be responsible for this form of palmoplantar keratoderma. (C) 1996 Academic Press, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 15:35:12