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Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post fertilization. The depressed electroretinogram (ERG) cone response and cone spectral sensitivity of 5 dpf KO zebrafish and reduced eye size, retinal thickness, and expression of rod and cone opsins could be rescued by injection of wild type CLCC1 mRNA. Clcc1+/- KO mice showed decreased ERGs and photoreceptor number. Together these results strongly suggest that intracellular chloride transport by CLCC1 is a critical process in maintaining retinal integrity, and CLCC1 is crucial for survival and function of retinal cells.
Homo sapiens, chloride channel, retina, Holocene, Bangladesh, retinitis pigmentosa, Pakistan, Great Britain
DRYAD
Li, Lin
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Jiao, Xiaodong
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D’Atri, Ilaria
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Lin, Siying
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Hameed, Abdul
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Chioza, Barry A.
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Hardy, Holly
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Hull, Sarah
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Khan, Muhammad Imran
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Fasham, James
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Harlalka, V. Gaurav
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Michaelides, Michel
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Jhangiani, Shalini
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Lupski, James R.
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Cremers, Frans P. M.
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Qamar, Raheel
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Salman, Ahmed
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Chilton, John
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Self, Jay
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Ayyagari, Radha
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Kabir, Firoz
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Naeem, Muhammad Asif
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Ali, Muhammad
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Akram, Javed
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Sieving, Paul A.
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Riazuddin, Sheikh
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Baple, Emma L.
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Riazuddin, Sheikh Amer
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Crosby, Andrew H.
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Hejtmancik, J. Fielding
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Cremers, Frans P. M.
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Li, Lin
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Jiao, Xiaodong
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D’Atri, Ilaria
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Ono, Fumihito
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Nelson, Ralph
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Chan, Chi-Chao
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Nakaya, Naoki
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Ma, Zhiwei
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Ma, Yan
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Cai, Xiaoying
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Lin, Siying
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Hardy, Holly
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Arno, Gavin
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Hull, Sarah
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Khan, Muhammad Imran
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Fasham, James
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Harlalka, V. Gaurav
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Michaelides, Michel
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Moore, Anthony T.
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Coban Akdemir, Zeynep Hande
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Jhangiani, Shalini
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Lupski, James R.
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Cremers, Frans P. M.
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Qamar, Raheel
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Salman, Ahmed
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Chilton, John
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Self, Jay
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Ayyagari, Radha
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Kabir, Firoz
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Naeem, Muhammad Asif
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Ali, Muhammad
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Akram, Javed
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Sieving, Paul A.
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Riazuddin, Sheikh
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Baple, Emma L.
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Riazuddin, Sheikh Amer
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Crosby, Andrew H.
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Hejtmancik, J. Fielding
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Cremers, Frans P. M.
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(2019) Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. DRYAD doi:10.5061/dryad.3vv31qq [Dataset]

Record type: Dataset

Abstract

We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post fertilization. The depressed electroretinogram (ERG) cone response and cone spectral sensitivity of 5 dpf KO zebrafish and reduced eye size, retinal thickness, and expression of rod and cone opsins could be rescued by injection of wild type CLCC1 mRNA. Clcc1+/- KO mice showed decreased ERGs and photoreceptor number. Together these results strongly suggest that intracellular chloride transport by CLCC1 is a critical process in maintaining retinal integrity, and CLCC1 is crucial for survival and function of retinal cells.

This record has no associated files available for download.

More information

Published date: 2019
Related URLs:
Keywords: Homo sapiens, chloride channel, retina, Holocene, Bangladesh, retinitis pigmentosa, Pakistan, Great Britain

Identifiers

Local EPrints ID: 436516
URI: http://eprints.soton.ac.uk/id/eprint/436516
DOI: doi:10.5061/dryad.3vv31qq
PURE UUID: 22fed6ee-94ef-4e3a-8ae2-c4881827161c
ORCID for Ahmed Salman: ORCID iD orcid.org/0000-0003-4300-2033
ORCID for Jay Self: ORCID iD orcid.org/0000-0002-1030-9963

Catalogue record

Date deposited: 11 Dec 2019 17:31
Last modified: 15 Jul 2023 01:38

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Contributors

Contributor: Lin Li
Contributor: Xiaodong Jiao
Contributor: Ilaria D’Atri
Contributor: Fumihito Ono
Contributor: Ralph Nelson
Contributor: Chi-Chao Chan
Contributor: Naoki Nakaya
Contributor: Zhiwei Ma
Contributor: Yan Ma
Contributor: Xiaoying Cai
Contributor: Longhua Zhang
Contributor: Siying Lin
Contributor: Abdul Hameed
Contributor: Barry A. Chioza
Contributor: Holly Hardy
Contributor: Gavin Arno
Contributor: Sarah Hull
Contributor: Muhammad Imran Khan
Contributor: James Fasham
Contributor: V. Gaurav Harlalka
Contributor: Michel Michaelides
Contributor: Anthony T. Moore
Contributor: Zeynep Hande Coban Akdemir
Contributor: Shalini Jhangiani
Contributor: James R. Lupski
Contributor: Frans P. M. Cremers
Contributor: Raheel Qamar
Contributor: Ahmed Salman ORCID iD
Contributor: John Chilton
Contributor: Jay Self ORCID iD
Contributor: Radha Ayyagari
Contributor: Firoz Kabir
Contributor: Muhammad Asif Naeem
Contributor: Muhammad Ali
Contributor: Javed Akram
Contributor: Paul A. Sieving
Contributor: Sheikh Riazuddin
Contributor: Emma L. Baple
Contributor: Sheikh Amer Riazuddin
Contributor: Andrew H. Crosby
Contributor: J. Fielding Hejtmancik
Contributor: Frans P. M. Cremers

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