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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
- Source :
-
Nature Genetics . Mar1999, Vol. 21 Issue 3, p271. 7p. - Publication Year :
- 1999
-
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 Ca2+-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis. [ABSTRACT FROM AUTHOR]
- Subjects :
- *GENETIC mutation
*KERATOSIS follicularis
*GENETICS
Subjects
Details
- Language :
- English
- ISSN :
- 10614036
- Volume :
- 21
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Nature Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8816198
- Full Text :
- https://doi.org/10.1038/6784