Expression of three distinct families of calcium-activated chloride channel genes in the mouse dorsal root ganglion

Al-Jumaily, Mohammed; Kozlenkov, Alexei; Méchaly, Ilana; Fichard, Agnès; Matha, Valerie; Scamps, Frédérique; Valmier, Jean; Carroll, Patrick

doi:10.1007/s12264-007-0044-8

Cited by 30 publications

(24 citation statements)

References 28 publications

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“…mBest1 expression both in cortical neurons and astrocytes was also detected by RT-PCR and confirmed by gene silencing for mBest1 with mBest1-shRNA (Lee et al, 2010; Oh et al, 2012; Park et al, 2009). Murine Best1 mRNA and protein have also been reportedly expressed in the dorsal spinal cord and dorsal root ganglion (Al-Jumaily et al, 2007; Andre et al, 2003; Pineda-Farias et al, 2015). …”

Section: Best1 Expression Localization and Functionmentioning

confidence: 99%

Bestrophin 1 and retinal disease

Johnson

Guziewicz

Lee

et al. 2017

Progress in Retinal and Eye Research

196

177

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Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the “bestrophinopathies”. These five associated diseases are: Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy, and retinitis pigmentosa. The most common of these is Best vitelliform macular dystrophy. Bestrophin 1 (Best1), the protein encoded by the gene BEST1, has been the subject of a great deal of research since it was first identified nearly two decades ago. Today we know that Best1 functions as both a pentameric anion channel and a regulator of intracellular Ca2+ signaling. Best1 is an integral membrane protein which, within the eye, is uniquely expressed in the retinal pigment epithelium where it predominantly localizes to the basolateral plasma membrane. Within the brain, Best1 expression has been documented in both glial cells and astrocytes where it functions in both tonic GABA release and glutamate transport. The crystal structure of Best1 has revealed critical information about how Best1 functions as an ion channel and how Ca2+ regulates that function. Studies using animal models have led to critical insights into the physiological roles of Best1 and advances in stem cell technology have allowed for the development of patient-derived, “disease in a dish” models. In this article we review our knowledge of Best1 and discuss prospects for near-term clinical trials to test therapies for the bestrophinopathies, a currently incurable and untreatable set of diseases.

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Section: Best1 Expression Localization and Functionmentioning

confidence: 99%

Bestrophin 1 and retinal disease

Johnson

Guziewicz

Lee

et al. 2017

Progress in Retinal and Eye Research

196

177

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“…Similarly, there are four Clca genes in the cow and horse genomes, and five Clca genes in rats. In contrast to these species, the mouse Clca (mClca) locus consists of eight genes located on chromosome 3 (23). The basis for the extra Clca genes in the mouse is uncertain, but the situation appears to lead to at least some degree of functional redundancy (24).…”

Section: Background Biochemistrymentioning

confidence: 99%

“…Accordingly, we used the BLAST (87) program to search for homologues of the mClca3 gene and consequently uncovered four additional mClca genes flanking mClca3 on mouse chromosome 3. We tentatively named these genes mClca5 , mClca6 , mClca7 , and mClca8 ; and subsequently, these genes were given the same designations (23, 88), with homology to human CLCA family members as shown in Figure 2. Because other mClca family members are also expressed in airway tissue (88, 89), they may compensate for the loss of mClca3 and thereby allow for the development of mucous cell metaplasia in the setting of mClca3 deficiency (24).…”

Section: Models Of Inflammatory Airway Diseasementioning

confidence: 99%

The Role of CLCA Proteins in Inflammatory Airway Disease

Patel

Brett

Holtzman

2009

Annu. Rev. Physiol.

165

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Inflammatory airway diseases such as asthma and chronic obstructive pulmonary disease (COPD) exhibit stereotyped traits that are variably expressed in each person. In experimental mouse models of chronic lung disease, these individual disease traits can be genetically segregated and thereby linked to distinct determinants. Functional genomic analysis indicates that at least one of these traits, mucous cell metaplasia, depends on members of the calcium-activated chloride channel (CLCA) gene family. Here we review advances in the biochemistry of the CLCA family and the evidence of a role for CLCA family members in the development of mucous cell metaplasia and possibly airway hyperreactivity in experimental models and in humans. Based on this information, we develop the model that CLCA proteins are not integral membrane proteins with ion channel function, but instead are secreted signaling molecules that specifically regulate airway target cells in healthy and disease conditions.

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“…Best1 is expressed in the basolateral membrane of the retinal pigment epithelium (RPE) [15]. Apart from RPE cells, Best1 was found in a number of other epithelial tissues such as testis, airways, and various epithelial cell lines as well as neuronal cells [1,3,7,10,30]. Recent studies arrived at the conclusion that Best1 regulates voltage-gated Ca 2+ channels [16,26,37].…”

Section: Introductionmentioning

confidence: 99%

Functional assembly and purinergic activation of bestrophins

Milenkovic

Soria

Aldehni

et al. 2009

Pflugers Arch - Eur J Physiol

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Proteins of the bestrophin family produce Ca(2+)-activated Cl(-) currents and regulate voltage-gated Ca(2+) channels. Bestrophin 1 was first identified in the retinal pigment epithelium. Four human paralogs (hBest1-hBest4) exist, and for some bestrophins, dimeric and heterotetrameric structures have been proposed. Here, we demonstrate that hBest1-hBest4 induce Cl(-) conductances of different amplitudes when expressed in HEK293 cells and when activated through purinergic stimulation. hBest1 mutants that are known to cause autosomal dominant macular dystrophy (Best disease) did not produce a Cl(-) current. Bestrophins were colocalized and showed molecular and functional interaction in HEK293 cells, overexpressing hBest1 and hBest2 or hBest4. Interaction was confirmed in airway epithelial cells coexpressing endogenous bestrophins. A fraction of hBest2 and hBest4 was expressed in the membrane, while most of hBest1 was found in the endoplasmic reticulum. Nevertheless, hBest1 has a clear role for the adenosine triphosphate (ATP; or uridine triphosphate)-induced Cl(-) current in both HEK293 and Calu-3 cells. Since native epithelial tissues typically express several bestrophin paralogs, these proteins may exist as heterooligomeric structures.

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Expression of three distinct families of calcium-activated chloride channel genes in the mouse dorsal root ganglion

Cited by 30 publications

References 28 publications

Bestrophin 1 and retinal disease

Bestrophin 1 and retinal disease

The Role of CLCA Proteins in Inflammatory Airway Disease

Functional assembly and purinergic activation of bestrophins

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