PMID- 10080178
OWN - NLM
STAT- MEDLINE
DCOM- 19990331
LR  - 20191210
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 21
IP  - 3
DP  - 1999 Mar
TI  - Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
PG  - 271-7
AB  - 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.
FAU - Sakuntabhai, A
AU  - Sakuntabhai A
AD  - The Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
FAU - Ruiz-Perez, V
AU  - Ruiz-Perez V
FAU - Carter, S
AU  - Carter S
FAU - Jacobsen, N
AU  - Jacobsen N
FAU - Burge, S
AU  - Burge S
FAU - Monk, S
AU  - Monk S
FAU - Smith, M
AU  - Smith M
FAU - Munro, C S
AU  - Munro CS
FAU - O'Donovan, M
AU  - O'Donovan M
FAU - Craddock, N
AU  - Craddock N
FAU - Kucherlapati, R
AU  - Kucherlapati R
FAU - Rees, J L
AU  - Rees JL
FAU - Owen, M
AU  - Owen M
FAU - Lathrop, G M
AU  - Lathrop GM
FAU - Monaco, A P
AU  - Monaco AP
FAU - Strachan, T
AU  - Strachan T
FAU - Hovnanian, A
AU  - Hovnanian A
LA  - eng
SI  - GENBANK/AC006088
SI  - GENBANK/AF006086
SI  - GENBANK/H73417
SI  - GENBANK/M21812
SI  - GENBANK/M23114
SI  - GENBANK/M23115
SI  - GENBANK/M25488
SI  - GENBANK/P11508
SI  - GENBANK/P11606
SI  - GENBANK/P11719
SI  - GENBANK/P12947
SI  - GENBANK/P16614
SI  - GENBANK/P16615
SI  - GENBANK/P17403
SI  - GENBANK/P36873
SI  - GENBANK/P38759
SI  - GENBANK/P43490
SI  - GENBANK/P47914
SI  - GENBANK/Q00779
SI  - GENBANK/Q93084
SI  - GENBANK/U49083
SI  - GENBANK/U80218
SI  - GENBANK/U96781
SI  - GENBANK/X15940
SI  - GENBANK/X74008
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Isoenzymes)
RN  - EC 7.2.2.10 (Calcium-Transporting ATPases)
SB  - IM
CIN - Nat Genet. 1999 Mar;21(3):252-3. PMID: 10080170
MH  - Calcium-Transporting ATPases/*genetics/metabolism
MH  - Darier Disease/*genetics
MH  - Female
MH  - Gene Expression Regulation
MH  - Humans
MH  - Isoenzymes/genetics/metabolism
MH  - Keratinocytes/physiology
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
EDAT- 1999/03/18 03:02
MHDA- 2001/03/23 10:01
CRDT- 1999/03/18 03:02
PHST- 1999/03/18 03:02 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/03/18 03:02 [entrez]
AID - 10.1038/6784 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784.