Chromosomal localisation of the human envoplakin gene (EVPL) to the region of the tylosis oesophageal cancer gene (TOCG) on 17q25

Genomics
C RuhrbergF M Watt

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/II, 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.

Citations

Jan 13, 2000·Diseases of the Esophagus : Official Journal of the International Society for Diseases of the Esophagus·J M RiskJ K Field
Oct 19, 2006·Journal of Clinical Pathology·Revendran MoodleyRichard Naidoo
Mar 26, 1999·Genes, Chromosomes & Cancer·K FukinoM Emi
Jan 2, 2001·Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists·R B Presland, B A Dale
Apr 5, 2000·The Journal of Biological Chemistry·A MäättäF M Watt
Jun 1, 1997·Current Opinion in Genetics & Development·C Ruhrberg, F M Watt
Jun 1, 1997·Trends in Genetics : TIG·A M Christiano
Aug 28, 2002·Journal of the American Academy of Dermatology·Arash Kimyai-AsadiMing H Jih

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