Ca2+ EXTRUSION ACROSS PLASMA MEMBRANE AND Ca2+ UPTAKE BY INTRACELLULAR STORES

Missiaen, Ludwig; Wuytack, Frank; Raeymaekers, Luc; Smedt, Humbert De; Droogmans, Guy; Jaegere, Sabine De; Casteels, Rik

doi:10.1016/b978-0-08-042184-1.50017-2

Cited by 12 publications

(21 citation statements)

References 534 publications

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“…ATP2A2 is alternatively spliced into two transcripts: 6 SERCA2a is found in cardiac muscle and slow twitch skeletal muscle, 7 whereas SERCA2b is found in many other tissues 2 and is likely to be the predominant isoform in keratinocytes. The wide expression of SERCA2 might suggest that mutations in ATP2A2 would cause multisystem disease.…”

Section: Reportmentioning

confidence: 99%

Platelet and cardiac function in Darier's disease

Tavadia¹,

Tait²,

McDonagh

et al. 2001

Clinical and Experimental Dermatology

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ATP2A2, the gene that is abnormal in Darier's disease, encodes SERCA2, a calcium pump that is expressed in many tissues. The wide expression of SERCA2 might suggest that ATP2A2 mutations would cause a multisystem disease. There is however, no evidence of consistent extracutaneous manifestations of Darier's disease. We have conducted preliminary studies in patients with Darier's disease, in two extracutaneous systems in which SERCA2 is known to be important, in order to investigate whether subtle defects have been overlooked. We found no evidence for altered cardiac function in 10 patients using two-dimensional, colour and Doppler echocardiography. There were no consistent defects in platelet function in 12 patients, using bleeding time and aggregation studies. We conclude that the skin is sensitive to defects in SERCA2 function to which other systems appear robust.

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Section: Reportmentioning

confidence: 99%

Platelet and cardiac function in Darier's disease

Tavadia¹,

Tait²,

McDonagh

et al. 2001

Clinical and Experimental Dermatology

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“…Neuropsychiatric disorders have been reported in DD, including mental retardation, schizophrenia, bipolar disorders and epilepsy. The prevalence of the disease has been estimated at 1 : 36 000, 1 1 : 55 000 2 and 1 : 100 000; 3 the age of onset is usually within the second decade, and penetrance in adults is high 1 …”

mentioning

confidence: 99%

“…SERCA2 is a calcium pump in the sarcoplasmic reticulum that utilizes the chemical energy from ATP, and has two isoforms, SERCA2a and SERCA2b, that differ in their carboxy‐terminals and have distinct tissue‐specific expression patterns 4 . SERCA2a is primarily located in the heart and slow‐twitch skeletal muscle, whereas SERCA2b is present in the smooth muscle, epidermis and adnexal structures 2,3 , 5 . Despite the previous ATP2A2 mutation data in DD, the precise correlations between DD genotype and phenotype, or the position of ‘hotspot’ mutations, have not yet been established.…”

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confidence: 99%

Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability

et al. 2004

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Our results together with previous data indicate that the distribution of mutations is scattered over the entire ATP2A2 without any, as yet, discernible 'hotspots'. The mutations in pedigrees 1 and 2 with intrafamiliar clinical differences occurred around the Ca(2+)-binding sites on SERCA2, which might be associated with differences in clinical severity. These variations in ATP2A2 mutations alone cannot account for the clinical heterogeneity within DD pedigrees.

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“…Preparation of ER‐enriched microsomal membrane fraction was performed as described in Persson et al (). Ca 2+ uptake was performed at 22°C as described by Missiaen et al () with some modifications. Ca 2+ uptake reactions were conducted in an ATPase assay buffer (200‐mM sucrose, 25‐mM HEPES‐KOH [pH 7.0], 10‐mM KCl, 100‐μM CaCl 2 , 3‐mM MgSO4, 1‐mM DTT, and 3‐mM ATP).…”

Section: Methodsmentioning

confidence: 99%

Natural variation in a calreticulin gene causes reduced resistance to Ca²⁺ deficiency‐induced tipburn in Chinese cabbage (Brassica rapa ssp. pekinensis)

Wang³

et al. 2019

Plant Cell & Environment

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Tipburn is an irreversible physiological disorder of Chinese cabbage that decreases crop value. Because of a strong environmental component, tipburn‐resistant cultivars are the only solution, although tipburn resistance genes are unknown in Chinese cabbage. We studied three populations of Chinese cabbage over four growing seasons under field conditions: (a) 194 diverse inbred lines, (b) a doubled haploid (DH100) population, and (c) an F2 population. The 194 lines were genotyped using single nucleotide polymorphism markers, and genome‐wide‐association mapping showed that 24 gQTLs were significantly associated with tipburn disease index. Analysis of the DH100 and F2 populations identified a shared tipburn‐associated locus, gqbTRA06, that was found to cover the region defined by one of the 24 gQTLs. Of 35 genes predicted in the 0.14‐Mb quantitative trait locus region, Bra018575 (calreticulin family protein, BrCRT2) showed higher expression levels during disease development. We cloned the two BrCRT2 alleles from tipburn‐resistant (BrCRT2R) and tipburn‐susceptible (BrCRT2S) lines and identified a 51‐bp deletion in BrCRT2S. Overexpression of BrCRT2R increased Ca2+ storage in the Arabidopsis crt2 mutant and also reduced cell death in leaf tips and margins under Ca2+‐depleted conditions. Our results suggest that BrCRT2 is a possible candidate gene for controlling tipburn in Chinese cabbage.

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Ca2+ EXTRUSION ACROSS PLASMA MEMBRANE AND Ca2+ UPTAKE BY INTRACELLULAR STORES

Cited by 12 publications

References 534 publications

Platelet and cardiac function in Darier's disease

Platelet and cardiac function in Darier's disease

Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability

Natural variation in a calreticulin gene causes reduced resistance to Ca²⁺ deficiency‐induced tipburn in Chinese cabbage (Brassica rapa ssp. pekinensis)

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Ca2+ EXTRUSION ACROSS PLASMA MEMBRANE AND Ca2+ UPTAKE BY INTRACELLULAR STORES

Cited by 12 publications

References 534 publications

Platelet and cardiac function in Darier's disease

Platelet and cardiac function in Darier's disease

Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability

Natural variation in a calreticulin gene causes reduced resistance to Ca2+ deficiency‐induced tipburn in Chinese cabbage (Brassica rapa ssp. pekinensis)

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Natural variation in a calreticulin gene causes reduced resistance to Ca²⁺ deficiency‐induced tipburn in Chinese cabbage (Brassica rapa ssp. pekinensis)