PMID- 10615129
OWN - NLM
STAT- MEDLINE
DCOM- 20000210
LR  - 20191210
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 24
IP  - 1
DP  - 2000 Jan
TI  - Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
PG  - 61-5
AB  - Hailey-Hailey disease (HHD, MIM 16960) is inherited in an autosomal dominant
      manner and characterized by persistent blisters and erosions of the skin.
      Impaired intercellular adhesion and epidermal blistering also occur in
      individuals with pemphigus (which is due to autoantibodies directed against
      desmosomal proteins) and in patients with Darier disease (DD, MIM 124200), which 
      is caused by mutations in a gene encoding a sarco/endoplasmic reticulum
      (ER)-Golgi calcium pump. We report here the identification of mutations in
      ATP2C1, encoding the human homologue of an ATP-powered pump that sequesters
      calcium into the Golgi in yeast, in 21 HHD kindreds. Regulation of cytoplasmic
      calcium is impaired in cultured keratinocytes from HHD patients, and the normal
      epidermal calcium gradient is attenuated in vivo in HHD patients. Our findings
      not only provide an understanding of the molecular basis of HHD, but also
      underscore the importance of calcium control to the functioning of stratified
      squamous epithelia.
FAU - Hu, Z
AU  - Hu Z
AD  - Department of Dermatology, San Francisco General Hospital, University of
      California at San Francisco, San Francisco, California, USA.
FAU - Bonifas, J M
AU  - Bonifas JM
FAU - Beech, J
AU  - Beech J
FAU - Bench, G
AU  - Bench G
FAU - Shigihara, T
AU  - Shigihara T
FAU - Ogawa, H
AU  - Ogawa H
FAU - Ikeda, S
AU  - Ikeda S
FAU - Mauro, T
AU  - Mauro T
FAU - Epstein, E H Jr
AU  - Epstein EH Jr
LA  - eng
SI  - GENBANK/AF181120
SI  - GENBANK/AF181121
SI  - GENBANK/M23114
SI  - GENBANK/M23115
SI  - GENBANK/M25488
SI  - GENBANK/M93017
SI  - GENBANK/M93018
GR  - AR43119/AR/NIAMS NIH HHS/United States
GR  - AR44341/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 9007-49-2 (DNA)
RN  - EC 7.2.2.10 (ATP2C1 protein, human)
RN  - EC 7.2.2.10 (Calcium-Transporting ATPases)
SB  - IM
MH  - Adult
MH  - Base Sequence
MH  - Calcium-Transporting ATPases/*genetics
MH  - Cell Differentiation
MH  - Cells, Cultured
MH  - Chromosomes, Artificial, Yeast
MH  - DNA
MH  - Female
MH  - Humans
MH  - Hybrid Cells
MH  - Keratinocytes/cytology
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Pedigree
MH  - Pemphigus, Benign Familial/*genetics/pathology
EDAT- 1999/12/30 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/12/30 09:00
PHST- 1999/12/30 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/12/30 09:00 [entrez]
AID - 10.1038/71701 [doi]
PST - ppublish
SO  - Nat Genet. 2000 Jan;24(1):61-5. doi: 10.1038/71701.