The gene for Darier's disease maps to chromosome 12q23–q24.1

Craddock, Nicholas John; Dawson, Elisabeth; Burge, Susan; Parfitt, Liz; Mant, Becky; Roberts, Queta; Daniels, J.; Gill, M.; McGuffin, Peter; Powell, John; Owen, Michael John

doi:10.1093/hmg/2.11.1941

Cited by 109 publications

(75 citation statements)

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“…The autosomal dominant inheritable trait of DD was not identified until 1993, when the gene associated with DD was mapped to chromosome 12q23-24.1 by linkage analysis [13,14]. Later, in 1999, a group led by Alain Hovnanian and colleagues identified the ATP2A2 gene, which encodes the type 2 sarco(endo)-plasmic reticulum Ca 2+ -ATPase (SERCA2), as the causative gene for DD [12].…”

Section: Genetics Perspectivementioning

confidence: 99%

Darier’s disease: a calcium-signaling perspective

Pani

Singh

2007

Cell. Mol. Life Sci.

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Ca 2+ influx evoked across the plasma membrane upon internal store depletion is essential for a myriad of cellular functions including gene expression, cell proliferation, differentiation and even apoptosis. Darier's disease (DD), an autosomal dominant inherited disorder of the skin, arising due to mutations in the isoform 2 of the sarco (endo) plasmic reticulum Ca 2+ ATPase (SERCA2), exemplifies an anomaly of Ca 2+ signaling disturbances. Owing to loss of function mutations in SERCA2, keratinocytes in DD patients have a reduced pool of endoplasmic reticulum (ER) Ca 2+ . Importantly, the status of ER Ca 2+ is critical for the activation of a class of plasma membrane Ca 2+ channels referred to as store operated Ca 2+ channels (SOCs). The widely expressed transient receptor potential (TRP) family of channels is proposed to be SOCs. In this review we discuss DD from the viewpoint of Ca 2+ signaling and present a potential role for TRPC1 in the disease pathogenesis.

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Section: Genetics Perspectivementioning

confidence: 99%

Darier’s disease: a calcium-signaling perspective

Pani

Singh

2007

Cell. Mol. Life Sci.

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“…5,6 To date no genes demonstrating an unequivocal influence on susceptibility to BAD have been identified, although several chromosomal regions have been repeatedly implicated by different linkage studies (reviewed by Craddock and Jones 4 ). These include 4p, [7][8][9][10][11] 4q, 12,13 12q, [14][15][16][17] and 18p+q. [18][19][20][21][22][23][24][25][26] The fact that support for even the most promising loci is not universal is, of course, to be expected for a complex disorder in which the susceptibility genes exert modest individual effect sizes and interact with both other genes and environmental factors.…”

Section: Introductionmentioning

confidence: 99%

The Wellcome trust UK–Irish bipolar affective disorder sibling-pair genome screen: first stage report

et al. 2002

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We have completed the first stage of a two-stage genome wide screen designed to identify chromosomal regions that may harbour susceptibility genes for bipolar affective disorder. The first stage screening sample included 509 subjects from 151 nuclear families recruited within the United Kingdom and Republic of Ireland. This sample contained 154 narrowly defined affected sibling pairs (DSM-IV BPI) and 258 broadly defined affected sibling pairs (DSM-IV BPI, SABP, BPII, BPNOS or MDD(R)), approximately two thirds of all families contained at least one other additional typed individual. All individuals were genotyped using 398 highly polymorphic microsatellite markers from Applied Biosystems's Linkage Mapping Set Version 2. The average inter-marker distance was 9.6 cM and the mean heterozygosity was 0.78. Analysis of these data using non-parametric linkage methods (MAPMAKER/SIBS) found no evidence for loci of major effect and no regions reached genome-wide significance for either suggestive or significant linkage. We identified 19 points across the genome where the MLS exceeded a value set for follow up in our second stage screen (MLSՆ0.74 (equivalent to a nominal pointwise significance of 5%) under the narrowest diagnostic model). These points were on chromosomes 2, 3, 4, 6, 7, 9, 10, 12, 17, 18 & X. Some of these points overlapped with previous linkage reports both within bipolar affective disorder and other psychiatric illnesses. Under the narrowest diagnostic model, the single most significant multipoint linkage was on chromosome 18 at marker D18S452 (MLS=1.54). Overall the highest MLS was 1.70 on chromosome 2 at marker D2S125, under the broadest diagnostic model.

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“…14 In 1994, Craddock et al identified a pedigree cosegregating for bipolar disorder and Darier's disease, raising the possibility that the 12q23-q24 region encoded a potential bipolar disorder susceptibility locus. 6,15 While not confirmed in genome screens of pedigree cohorts, 16,17 studies of a very large French Canadian pedigree 18 and two Danish pedigrees 19 have provided significant evidence for linkage to this region.…”

Section: Introductionmentioning

confidence: 99%

A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q

et al. 2001

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Bipolar affective disorder is a severe mood disorder that afflicts approximately 1% of the population worldwide. Twin and adoption studies have indicated that genetic factors contribute to the disorder and while many chromosomal regions have been implicated, no susceptibility genes have been identified. In this present study, we undertook a 10 cM genome screen using 400 microsatellite markers in a large multigenerational bipolar pedigree consisting of 40 individuals, including six affecteds. We found strongest evidence for linkage to chromosome 13q14. A maximum NPL score of 4.09 (P = 0.008) was obtained between markers D13S1272 and D13S153 using GENEHUNTER. A maximum two-point LOD score of 2.91 ( = 0.0) was found for marker D13S153 and a maximum three-point LOD score of 3.0 was obtained between markers D13S291 and D13S153 under a recessive model with 90% maximum age-specific penetrance and including bipolar I and unipolar individuals as affected. Several other markers in the region, D13S175, D13S218, D13S263, and D13S156 had two-point LOD scores greater than 1.5. These results meet the criteria for evidence of suggestive linkage. Haplotype analysis enabled us to narrow the likely disease region to a 6 cM region between markers D13S1272 and D13S1319, which contains the serotonin 2A receptor candidate gene. Two single nucleotide polymorphisms were identified in this gene but we did not detect any significant differences in allele frequency in a case-control sample. The region on chromosome 13q14-32 has previously been implicated in other bipolar and schizophrenia cohorts. Our results provide further support for the existence of a susceptibility locus on chromosome 13q14. Molecular Psychiatry (2001) 6, 396-403.

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The gene for Darier's disease maps to chromosome 12q23–q24.1

Cited by 109 publications

References 0 publications

Darier’s disease: a calcium-signaling perspective

Darier’s disease: a calcium-signaling perspective

The Wellcome trust UK–Irish bipolar affective disorder sibling-pair genome screen: first stage report

A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q

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