Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

European Journal of Human Genetics : EJHG
D M HuntR S Buxton

Abstract

The adhesive proteins of the desmosome type of cell junction consist of two types of cadherin found exclusively in that structure, the desmogleins and desmocollins, coded by two closely linked loci on human chromosome 18q12.1. Recently we have identified a mutation in the DSG1 gene coding for desmoglein 1 as the cause of the autosomal dominant skin disease striate palmoplantar keratoderma (SPPK) in which affected individuals have marked hyperkeratotic bands on the palms and soles. In the present study we present the complete exon-intron structure of the DSG1 gene, which occupies approximately 43 kb, and intron primers sufficient to amplify all the exons. Using these we have analysed the mutational changes in this gene in five further cases of SPPK. All were heterozygotic mutations in the extracellular domain leading to a truncated protein, due either to an addition or deletion of a single base, or a base change resulting in a stop codon. Three mutations were in exon 9 and one in exon 11, both of which code for part of the third and fourth extracellular domains, and one was in exon 2 coding for part of the prosequence of this processed protein. This latter mutation thus results in the mutant allele synthesising only 25 amino aci...Continue Reading

References

Jun 1, 1992·Seminars in Cell Biology·R S Buxton, A I Magee
Jun 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·G N WheelerD A Rees
Dec 11, 1991·Nucleic Acids Research·M RingwaldR Kemler
Dec 1, 1996·Experimental Dermatology·L D Corden, W H McLean
Aug 1, 1997·The Journal of Investigative Dermatology·T HashimotoT Nishikawa
Dec 24, 1997·Differentiation; Research in Biological Diversity·I A KingR S Buxton
Jul 8, 1998·Proceedings of the National Academy of Sciences of the United States of America·C TselepisD Garrod
Sep 23, 1998·Micron : the International Research and Review Journal for Microscopy·I D Burdett
Sep 29, 1998·International Review of Cytology·A P KowalczykK J Green
Jan 15, 1999·Human Molecular Genetics·D K ArmstrongA E Hughes
Mar 18, 1999·Nature Genetics·A SakuntabhaiA Hovnanian
Apr 28, 1999·Molecular Medicine Today·D P Kelsell, H P Stevens
May 8, 1999·The British Journal of Dermatology·J A McGrathR A Eady
Jun 24, 1999·Journal of Dermatological Science·J A McGrath
Dec 14, 1999·The Journal of Investigative Dermatology·N V WhittockJ A McGrath
Apr 18, 2000·Human Molecular Genetics·R SudbrakA P Monaco

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Citations

Feb 15, 2005·Clinics in Dermatology·Peter H Itin, Susanna K Fistarol
Sep 17, 2002·Current Opinion in Cell Biology·David R GarrodZhuxiang Nie
Mar 26, 2013·The Journal of Clinical Investigation·Robert M HarmonKathleen J Green
Mar 19, 2014·Journal of Dermatological Science·Akemi Ishida-Yamamoto, Satomi Igawa
May 8, 2002·Experimental Dermatology·My G MahoneyLeena Pulkkinen
Oct 9, 2015·American Journal of Clinical Dermatology·Caroline Perez, Amor Khachemoune
May 17, 2011·The Journal of Allergy and Clinical Immunology·Joseph D Sherrill, Marc E Rothenberg
Jan 20, 2010·Journal of the American Academy of Dermatology·Reuven BergmanEli Sprecher
Jan 23, 2009·Journal of Dermatological Science·Martha B Dua-AwerehAngela M Christiano
May 2, 2002·The Journal of Investigative Dermatology·Neil V WhittockJohn A McGrath
Feb 14, 2002·The Journal of Investigative Dermatology·Neil V WhittockJohn A McGrath
Mar 22, 2003·The Journal of Investigative Dermatology·Ken Ishii
Feb 27, 2003·The Journal of Investigative Dermatology·Akemi Ishida-YamamotoHajime Iizuka
Mar 22, 2003·The Journal of Investigative Dermatology·Neil V Whittock, Christopher Bower
Dec 18, 2002·The Journal of Investigative Dermatology·Leena PulkkinenMy G Mahoney
Nov 17, 2007·The Journal of Investigative Dermatology·Joey E Lai-CheongJohn A McGrath
May 29, 2007·Experimental Cell Research·Jouni UittoJohn A McGrath
Dec 30, 2006·Journal of Dermatological Science·Alison G BarberAngela M Christiano
Dec 5, 2006·Journal of Dermatological Science·Rachel L DusekKathleen J Green
Oct 4, 2005·The Australasian Journal of Dermatology·John A McGrath
Jun 10, 2004·The Journal of Dermatology·Xing Cheng, Peter J Koch
Aug 22, 2003·Experimental Dermatology·Ana KljuicAbraham Zlotogorski
Jun 30, 2009·The British Journal of Dermatology·M ZamiriC S Munro
Jun 26, 2003·Clinical and Experimental Dermatology·N V Whittock, C Bower
Nov 21, 2008·Clinical and Experimental Dermatology·D HershkovitzE Sprecher
Oct 5, 2010·The Journal of Dermatology·Kazuhiro KawaiTakuro Kanekura
Sep 21, 2011·The British Journal of Dermatology·G PetrofJ A McGrath
Dec 21, 2004·Differentiation; Research in Biological Diversity·Donna BrennanMy G Mahoney
Mar 13, 2003·Experimental Dermatology·L PulkkinenM G Mahoney
Mar 13, 2003·Experimental Dermatology·A Kljuic, A M Christiano
Jul 22, 2014·The British Journal of Dermatology·C HasL Bruckner-Tuderman
Jul 16, 2010·The Biochemical Journal·Helen A ThomasonDavid R Garrod
Dec 10, 2014·Cell and Tissue Research·Liat Samuelov, Eli Sprecher
Oct 13, 2006·American Journal of Human Genetics·Petros SyrrisWilliam J McKenna
Oct 28, 2016·Journal of Cellular Physiology·Antonio CelentanoNicola Cirillo
May 24, 2007·British Journal of Cancer·M Chidgey, C Dawson
Nov 20, 2018·Journal of the European Academy of Dermatology and Venereology : JEADV·T NomuraH Shimizu
Feb 22, 2008·The EMBO Journal·Tomasz WilanowskiStephen M Jane

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