Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Sakuntabhai, A., Ruiz-Perez, V., Carter, S., Jacobsen, N., Burge, S., Monk, S., Smith, M., Munro, C. S., O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Kucherlapati, R., Rees, J. L., Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862, Lathrop, G. M., Monaco, A. P., Strachan, T. and Hovnanian, A. 1999. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nature Genetics 21 (3) , pp. 271-277.

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Abstract

Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes. Thirteen mutations were identified, including frameshift deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense mutations in functional domains. Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	Nature Publishing Group
ISSN:	1061-4036
Related URLs:	http://www.nature.com/ng/index.html
Last Modified:	27 Oct 2022 08:30
URI:	https://orca.cardiff.ac.uk/id/eprint/62533

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