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

Lookup NU author(s): Dr Victor Ruiz-Perez, Professor Tom Strachan


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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, Pi-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 Ca2+-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.

Publication metadata

Author(s): Strachan T; Ruiz-Perez V; Sakuntabhai A; Carter S; Jacobsen N; Burge S; Monk S; Smith M; Munro CS; O'Donovan M; Craddock N; Kucherlapati R; Rees JL; Owen M; Lathrop GM; Monaco AP; Hovnanian A

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 1999

Volume: 21

Issue: 3

Pages: 271-277

Print publication date: 01/03/1999

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group


DOI: 10.1038/6784


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