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 altera...
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| creator | Li, Lin Jiao, Xiaodong D’Atri, Ilaria Ono, Fumihito Nelson, Ralph Chan, Chi-Chao Nakaya, Naoki Ma, Zhiwei Ma, Yan Cai, Xiaoying Zhang, Longhua Lin, Siying Hameed, Abdul Chioza, Barry A. Hardy, Holly Arno, Gavin Hull, Sarah Khan, Muhammad Imran Fasham, James Harlalka, V. Gaurav Michaelides, Michel Moore, Anthony T. Coban Akdemir, Zeynep Hande Jhangiani, Shalini Lupski, James R. Cremers, Frans P.M. Qamar, Raheel Salman, Ahmed Chilton, John Self, Jay Ayyagari, Radha Kabir, Firoz Naeem, Muhammad Asif Ali, Muhammad Akram, Javed Sieving, Paul A. Riazuddin, Sheikh Baple, Emma L. Riazuddin, Sheikh Amer Crosby, Andrew H. Hejtmancik, J. Fielding Cremers, Frans P. M. |
| description | 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. |
| doi_str_mv | 10.5061/dryad.3vv31qq |
| format | Dataset |
| fullrecord | <record><control><sourceid>datacite_PQ8</sourceid><recordid>TN_cdi_datacite_primary_10_5061_dryad_3vv31qq</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>10_5061_dryad_3vv31qq</sourcerecordid><originalsourceid>FETCH-datacite_primary_10_5061_dryad_3vv31qq3</originalsourceid><addsrcrecordid>eNqVjrFOwzAQQL0woNKR_X4gIVZUBtZQxEA3dutkX8hJjt3Yl7T5-5oqP9DpveENT6lX3dSH5l2_ubSiq9tlafU0PavrJwpCn-L4AadZUDgG4AAyUIEktOT97DGBHXxM7KgIhkAeup-u04A5R8so5ODCMgDOEnMc0UMiSznzQsWEAwtnOPPfSKEU-KKeevSZ9ht3qvo6_nbflStDloXMOfGIaTW6Mf_n5n5utvP20f4GGMNXhQ</addsrcrecordid><sourcetype>Publisher</sourcetype><iscdi>true</iscdi><recordtype>dataset</recordtype></control><display><type>dataset</type><title>Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa</title><source>DataCite</source><creator>Li, Lin ; Jiao, Xiaodong ; D’Atri, Ilaria ; Ono, Fumihito ; Nelson, Ralph ; Chan, Chi-Chao ; Nakaya, Naoki ; Ma, Zhiwei ; Ma, Yan ; Cai, Xiaoying ; Zhang, Longhua ; Lin, Siying ; Hameed, Abdul ; Chioza, Barry A. ; Hardy, Holly ; Arno, Gavin ; Hull, Sarah ; Khan, Muhammad Imran ; Fasham, James ; Harlalka, V. Gaurav ; Michaelides, Michel ; Moore, Anthony T. ; Coban Akdemir, Zeynep Hande ; Jhangiani, Shalini ; Lupski, James R. ; Cremers, Frans P.M. ; Qamar, Raheel ; Salman, Ahmed ; Chilton, John ; Self, Jay ; Ayyagari, Radha ; Kabir, Firoz ; Naeem, Muhammad Asif ; Ali, Muhammad ; Akram, Javed ; Sieving, Paul A. ; Riazuddin, Sheikh ; Baple, Emma L. ; Riazuddin, Sheikh Amer ; Crosby, Andrew H. ; Hejtmancik, J. Fielding ; Cremers, Frans P. M.</creator><creatorcontrib>Li, Lin ; Jiao, Xiaodong ; D’Atri, Ilaria ; Ono, Fumihito ; Nelson, Ralph ; Chan, Chi-Chao ; Nakaya, Naoki ; Ma, Zhiwei ; Ma, Yan ; Cai, Xiaoying ; Zhang, Longhua ; Lin, Siying ; Hameed, Abdul ; Chioza, Barry A. ; Hardy, Holly ; Arno, Gavin ; Hull, Sarah ; Khan, Muhammad Imran ; Fasham, James ; Harlalka, V. Gaurav ; Michaelides, Michel ; Moore, Anthony T. ; Coban Akdemir, Zeynep Hande ; Jhangiani, Shalini ; Lupski, James R. ; Cremers, Frans P.M. ; Qamar, Raheel ; Salman, Ahmed ; Chilton, John ; Self, Jay ; Ayyagari, Radha ; Kabir, Firoz ; Naeem, Muhammad Asif ; Ali, Muhammad ; Akram, Javed ; Sieving, Paul A. ; Riazuddin, Sheikh ; Baple, Emma L. ; Riazuddin, Sheikh Amer ; Crosby, Andrew H. ; Hejtmancik, J. Fielding ; Cremers, Frans P. M.</creatorcontrib><description>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.</description><identifier>DOI: 10.5061/dryad.3vv31qq</identifier><language>eng</language><publisher>Dryad</publisher><subject>chloride channel ; Holocene ; Homo Sapiens ; Retinitis pigmentosa</subject><creationdate>2019</creationdate><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>780,1893</link.rule.ids><linktorsrc>$$Uhttps://commons.datacite.org/doi.org/10.5061/dryad.3vv31qq$$EView_record_in_DataCite.org$$FView_record_in_$$GDataCite.org$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>Li, Lin</creatorcontrib><creatorcontrib>Jiao, Xiaodong</creatorcontrib><creatorcontrib>D’Atri, Ilaria</creatorcontrib><creatorcontrib>Ono, Fumihito</creatorcontrib><creatorcontrib>Nelson, Ralph</creatorcontrib><creatorcontrib>Chan, Chi-Chao</creatorcontrib><creatorcontrib>Nakaya, Naoki</creatorcontrib><creatorcontrib>Ma, Zhiwei</creatorcontrib><creatorcontrib>Ma, Yan</creatorcontrib><creatorcontrib>Cai, Xiaoying</creatorcontrib><creatorcontrib>Zhang, Longhua</creatorcontrib><creatorcontrib>Lin, Siying</creatorcontrib><creatorcontrib>Hameed, Abdul</creatorcontrib><creatorcontrib>Chioza, Barry A.</creatorcontrib><creatorcontrib>Hardy, Holly</creatorcontrib><creatorcontrib>Arno, Gavin</creatorcontrib><creatorcontrib>Hull, Sarah</creatorcontrib><creatorcontrib>Khan, Muhammad Imran</creatorcontrib><creatorcontrib>Fasham, James</creatorcontrib><creatorcontrib>Harlalka, V. Gaurav</creatorcontrib><creatorcontrib>Michaelides, Michel</creatorcontrib><creatorcontrib>Moore, Anthony T.</creatorcontrib><creatorcontrib>Coban Akdemir, Zeynep Hande</creatorcontrib><creatorcontrib>Jhangiani, Shalini</creatorcontrib><creatorcontrib>Lupski, James R.</creatorcontrib><creatorcontrib>Cremers, Frans P.M.</creatorcontrib><creatorcontrib>Qamar, Raheel</creatorcontrib><creatorcontrib>Salman, Ahmed</creatorcontrib><creatorcontrib>Chilton, John</creatorcontrib><creatorcontrib>Self, Jay</creatorcontrib><creatorcontrib>Ayyagari, Radha</creatorcontrib><creatorcontrib>Kabir, Firoz</creatorcontrib><creatorcontrib>Naeem, Muhammad Asif</creatorcontrib><creatorcontrib>Ali, Muhammad</creatorcontrib><creatorcontrib>Akram, Javed</creatorcontrib><creatorcontrib>Sieving, Paul A.</creatorcontrib><creatorcontrib>Riazuddin, Sheikh</creatorcontrib><creatorcontrib>Baple, Emma L.</creatorcontrib><creatorcontrib>Riazuddin, Sheikh Amer</creatorcontrib><creatorcontrib>Crosby, Andrew H.</creatorcontrib><creatorcontrib>Hejtmancik, J. Fielding</creatorcontrib><creatorcontrib>Cremers, Frans P. M.</creatorcontrib><title>Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa</title><description>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.</description><subject>chloride channel</subject><subject>Holocene</subject><subject>Homo Sapiens</subject><subject>Retinitis pigmentosa</subject><fulltext>true</fulltext><rsrctype>dataset</rsrctype><creationdate>2019</creationdate><recordtype>dataset</recordtype><sourceid>PQ8</sourceid><recordid>eNqVjrFOwzAQQL0woNKR_X4gIVZUBtZQxEA3dutkX8hJjt3Yl7T5-5oqP9DpveENT6lX3dSH5l2_ubSiq9tlafU0PavrJwpCn-L4AadZUDgG4AAyUIEktOT97DGBHXxM7KgIhkAeup-u04A5R8so5ODCMgDOEnMc0UMiSznzQsWEAwtnOPPfSKEU-KKeevSZ9ht3qvo6_nbflStDloXMOfGIaTW6Mf_n5n5utvP20f4GGMNXhQ</recordid><startdate>20190723</startdate><enddate>20190723</enddate><creator>Li, Lin</creator><creator>Jiao, Xiaodong</creator><creator>D’Atri, Ilaria</creator><creator>Ono, Fumihito</creator><creator>Nelson, Ralph</creator><creator>Chan, Chi-Chao</creator><creator>Nakaya, Naoki</creator><creator>Ma, Zhiwei</creator><creator>Ma, Yan</creator><creator>Cai, Xiaoying</creator><creator>Zhang, Longhua</creator><creator>Lin, Siying</creator><creator>Hameed, Abdul</creator><creator>Chioza, Barry A.</creator><creator>Hardy, Holly</creator><creator>Arno, Gavin</creator><creator>Hull, Sarah</creator><creator>Khan, Muhammad Imran</creator><creator>Fasham, James</creator><creator>Harlalka, V. Gaurav</creator><creator>Michaelides, Michel</creator><creator>Moore, Anthony T.</creator><creator>Coban Akdemir, Zeynep Hande</creator><creator>Jhangiani, Shalini</creator><creator>Lupski, James R.</creator><creator>Cremers, Frans P.M.</creator><creator>Qamar, Raheel</creator><creator>Salman, Ahmed</creator><creator>Chilton, John</creator><creator>Self, Jay</creator><creator>Ayyagari, Radha</creator><creator>Kabir, Firoz</creator><creator>Naeem, Muhammad Asif</creator><creator>Ali, Muhammad</creator><creator>Akram, Javed</creator><creator>Sieving, Paul A.</creator><creator>Riazuddin, Sheikh</creator><creator>Baple, Emma L.</creator><creator>Riazuddin, Sheikh Amer</creator><creator>Crosby, Andrew H.</creator><creator>Hejtmancik, J. Fielding</creator><creator>Cremers, Frans P. M.</creator><general>Dryad</general><scope>DYCCY</scope><scope>PQ8</scope></search><sort><creationdate>20190723</creationdate><title>Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa</title><author>Li, Lin ; Jiao, Xiaodong ; D’Atri, Ilaria ; Ono, Fumihito ; Nelson, Ralph ; Chan, Chi-Chao ; Nakaya, Naoki ; Ma, Zhiwei ; Ma, Yan ; Cai, Xiaoying ; Zhang, Longhua ; Lin, Siying ; Hameed, Abdul ; Chioza, Barry A. ; Hardy, Holly ; Arno, Gavin ; Hull, Sarah ; Khan, Muhammad Imran ; Fasham, James ; Harlalka, V. Gaurav ; Michaelides, Michel ; Moore, Anthony T. ; Coban Akdemir, Zeynep Hande ; Jhangiani, Shalini ; Lupski, James R. ; Cremers, Frans P.M. ; Qamar, Raheel ; Salman, Ahmed ; Chilton, John ; Self, Jay ; Ayyagari, Radha ; Kabir, Firoz ; Naeem, Muhammad Asif ; Ali, Muhammad ; Akram, Javed ; Sieving, Paul A. ; Riazuddin, Sheikh ; Baple, Emma L. ; Riazuddin, Sheikh Amer ; Crosby, Andrew H. ; Hejtmancik, J. Fielding ; Cremers, Frans P. M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-datacite_primary_10_5061_dryad_3vv31qq3</frbrgroupid><rsrctype>datasets</rsrctype><prefilter>datasets</prefilter><language>eng</language><creationdate>2019</creationdate><topic>chloride channel</topic><topic>Holocene</topic><topic>Homo Sapiens</topic><topic>Retinitis pigmentosa</topic><toplevel>online_resources</toplevel><creatorcontrib>Li, Lin</creatorcontrib><creatorcontrib>Jiao, Xiaodong</creatorcontrib><creatorcontrib>D’Atri, Ilaria</creatorcontrib><creatorcontrib>Ono, Fumihito</creatorcontrib><creatorcontrib>Nelson, Ralph</creatorcontrib><creatorcontrib>Chan, Chi-Chao</creatorcontrib><creatorcontrib>Nakaya, Naoki</creatorcontrib><creatorcontrib>Ma, Zhiwei</creatorcontrib><creatorcontrib>Ma, Yan</creatorcontrib><creatorcontrib>Cai, Xiaoying</creatorcontrib><creatorcontrib>Zhang, Longhua</creatorcontrib><creatorcontrib>Lin, Siying</creatorcontrib><creatorcontrib>Hameed, Abdul</creatorcontrib><creatorcontrib>Chioza, Barry A.</creatorcontrib><creatorcontrib>Hardy, Holly</creatorcontrib><creatorcontrib>Arno, Gavin</creatorcontrib><creatorcontrib>Hull, Sarah</creatorcontrib><creatorcontrib>Khan, Muhammad Imran</creatorcontrib><creatorcontrib>Fasham, James</creatorcontrib><creatorcontrib>Harlalka, V. Gaurav</creatorcontrib><creatorcontrib>Michaelides, Michel</creatorcontrib><creatorcontrib>Moore, Anthony T.</creatorcontrib><creatorcontrib>Coban Akdemir, Zeynep Hande</creatorcontrib><creatorcontrib>Jhangiani, Shalini</creatorcontrib><creatorcontrib>Lupski, James R.</creatorcontrib><creatorcontrib>Cremers, Frans P.M.</creatorcontrib><creatorcontrib>Qamar, Raheel</creatorcontrib><creatorcontrib>Salman, Ahmed</creatorcontrib><creatorcontrib>Chilton, John</creatorcontrib><creatorcontrib>Self, Jay</creatorcontrib><creatorcontrib>Ayyagari, Radha</creatorcontrib><creatorcontrib>Kabir, Firoz</creatorcontrib><creatorcontrib>Naeem, Muhammad Asif</creatorcontrib><creatorcontrib>Ali, Muhammad</creatorcontrib><creatorcontrib>Akram, Javed</creatorcontrib><creatorcontrib>Sieving, Paul A.</creatorcontrib><creatorcontrib>Riazuddin, Sheikh</creatorcontrib><creatorcontrib>Baple, Emma L.</creatorcontrib><creatorcontrib>Riazuddin, Sheikh Amer</creatorcontrib><creatorcontrib>Crosby, Andrew H.</creatorcontrib><creatorcontrib>Hejtmancik, J. Fielding</creatorcontrib><creatorcontrib>Cremers, Frans P. M.</creatorcontrib><collection>DataCite (Open Access)</collection><collection>DataCite</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Li, Lin</au><au>Jiao, Xiaodong</au><au>D’Atri, Ilaria</au><au>Ono, Fumihito</au><au>Nelson, Ralph</au><au>Chan, Chi-Chao</au><au>Nakaya, Naoki</au><au>Ma, Zhiwei</au><au>Ma, Yan</au><au>Cai, Xiaoying</au><au>Zhang, Longhua</au><au>Lin, Siying</au><au>Hameed, Abdul</au><au>Chioza, Barry A.</au><au>Hardy, Holly</au><au>Arno, Gavin</au><au>Hull, Sarah</au><au>Khan, Muhammad Imran</au><au>Fasham, James</au><au>Harlalka, V. Gaurav</au><au>Michaelides, Michel</au><au>Moore, Anthony T.</au><au>Coban Akdemir, Zeynep Hande</au><au>Jhangiani, Shalini</au><au>Lupski, James R.</au><au>Cremers, Frans P.M.</au><au>Qamar, Raheel</au><au>Salman, Ahmed</au><au>Chilton, John</au><au>Self, Jay</au><au>Ayyagari, Radha</au><au>Kabir, Firoz</au><au>Naeem, Muhammad Asif</au><au>Ali, Muhammad</au><au>Akram, Javed</au><au>Sieving, Paul A.</au><au>Riazuddin, Sheikh</au><au>Baple, Emma L.</au><au>Riazuddin, Sheikh Amer</au><au>Crosby, Andrew H.</au><au>Hejtmancik, J. Fielding</au><au>Cremers, Frans P. M.</au><format>book</format><genre>unknown</genre><ristype>DATA</ristype><title>Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa</title><date>2019-07-23</date><risdate>2019</risdate><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.</abstract><pub>Dryad</pub><doi>10.5061/dryad.3vv31qq</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext_linktorsrc |
| identifier | DOI: 10.5061/dryad.3vv31qq |
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| language | eng |
| recordid | cdi_datacite_primary_10_5061_dryad_3vv31qq |
| source | DataCite |
| subjects | chloride channel Holocene Homo Sapiens Retinitis pigmentosa |
| title | Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa |
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