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A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia

Nousbeck, Janna and Burger, Bettina and Fuchs-Telem, Dana and Pavlovsky, Mor and Fenig, Shlomit and Sarig, Ofer and Itin, Peter and Sprecher, Eli. (2011) A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. American journal of human genetics, Vol. 89, H. 2. pp. 302-307.

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Official URL: http://edoc.unibas.ch/dok/A6338446

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Abstract

Monogenic disorders offer unique opportunities for researchers to shed light upon fundamental physiological processes in humans. We investigated a large family affected with autosomal-dominant adermatoglyphia (absence of fingerprints) also known as the "immigration delay disease." Using linkage and haplotype analyses, we mapped the disease phenotype to 4q22. One of the genes located in this interval is SMARCAD1, a member of the SNF subfamily of the helicase protein superfamily. We demonstrated the existence of a short isoform of SMARCAD1 exclusively expressed in the skin. Sequencing of all SMARCAD1 coding and noncoding exons revealed a heterozygous transversion predicted to disrupt a conserved donor splice site adjacent to the 3' end of a noncoding exon uniquely present in the skin-specific short isoform of the gene. This mutation segregated with the disease phenotype throughout the entire family. Using a minigene system, we found that this mutation causes aberrant splicing, resulting in decreased stability of the short RNA isoform as predicted by computational analysis and shown by RT-PCR. Taken together, the present findings implicate a skin-specific isoform of SMARCAD1 in the regulation of dermatoglyph development.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Dermatology (Itin)
UniBasel Contributors:Itin, Peter
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Univ. of Chicago Press
ISSN:0002-9297
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:18 Dec 2015 09:31
Deposited On:10 Apr 2015 09:13

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