Localisation of a gene for Darier's disease

Bashir, Rumaisa; Munro, Colin S.; Mason, Susan; Stephenson, A.; Rees, Jonathan; Strachan, Tom

doi:10.1093/hmg/2.11.1937

Cited by 70 publications

(40 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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“…4 The gene for Darier's disease was mapped to chromosome 12q23-q24.1. [5][6][7][8][9] In a subsequent linkage study of 45 European BPD families (excluding pedigree 324) we found suggestive evidence for linkage to chromosome 12q23-q24.1.…”

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confidence: 66%

Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder

et al. 2000

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Bipolar affective disorder is a genetically complex psychiatric disorder with a population prevalence of approximately 1%. We have previously reported cosegregation of bipolar affective disorder and Darier's disease, a dominant skin disorder with a neuropsychiatric component. The gene for Darier's disease was mapped to chromosome 12q23-q24.1 and linkage studies by us and others have subsequently implicated this region as harbouring a susceptibility gene for bipolar affective disorder. In this study we have investigated the Darier's disease gene ATP2A2, the calcium pumping ATPase SERCA2, as a potential susceptibility gene for bipolar disorder under the hypothesis that variations in SERCA2 have pleiotropic effects in brain. Support for this hypothesis comes from clinical evidence of neuropsychiatric abnormalities in Darier's disease, genetic data produced in our study showing non-random clustering of missense mutations in ATP2A2 in neuropsychiatric Darier patients, and functional data demonstrating the role of SERCA2 in intracellular calcium regulation. In a panel of 15 unrelated bipolar patients from multiply affected families showing increased allele sharing at markers in the 12q23-q24.1 region, we performed mutational screening of the ATP2A2 coding sequence, promoter regions, and 3Ј untranslated region and identified six sequence variations. These were analysed in a large sample of bipolar patients (n ‫؍‬ 324) and control subjects (n ‫؍‬ 327). Analysis of allele and genotype distributions for all six variations, and of haplotype frequencies showed no evidence for the involvement of ATP2A2 in producing susceptibility to bipolar disorder. Molecular Psychiatry (2001) 6, 92-97.

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“…Although electron microscopy analysis revealed structural defects, including abnormal subcellular distribution of desmosomal proteins, the pathophysiology remained unclear. Two groups initially and simultaneously mapped Darier's disease to chromosome 12q using linkage analysis in multiple large kindreds (Bashir et al 1993;Craddock et al 1993). Speculation arose as to whether the defect resided in a keratin because the KRT1 and KRT5 genes had already been mapped to chromosome Figure 1.…”

Section: Positional Cloning Of Genes Underlying Several Inherited Skimentioning

confidence: 99%

The Genetics of Human Skin Disease

DeStefano

Christiano

2014

Cold Spring Harbor Perspectives in Medicine

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The skin is composed of a variety of cell types expressing specific molecules and possessing different properties that facilitate the complex interactions and intercellular communication essential for maintaining the structural integrity of the skin. Importantly, a single mutation in one of these molecules can disrupt the entire organization and function of these essential networks, leading to cell separation, blistering, and other striking phenotypes observed in inherited skin diseases. Over the past several decades, the genetic basis of many monogenic skin diseases has been elucidated using classical genetic techniques. Importantly, the findings from these studies has shed light onto the many classes of molecules and essential genetic as well as molecular interactions that lend the skin its rigid, yet flexible properties. With the advent of the human genome project, next-generation sequencing techniques, as well as several other recently developed methods, tremendous progress has been made in dissecting the genetic architecture of complex, non-Mendelian skin diseases.

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Localisation of a gene for Darier's disease

Cited by 70 publications

References 0 publications

Darier’s disease: a calcium-signaling perspective

Darier’s disease: a calcium-signaling perspective

Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder

The Genetics of Human Skin Disease

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