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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:, Craddock, Nicholas John ORCID:, Kucherlapati, R., Rees, J. L., Owen, Michael ORCID:, 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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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
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Last Modified: 27 Oct 2022 08:30

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