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

被引：28

作者：

Li, Lin ^{[1
,2
]}

Jiao, Xiaodong ^{[2
]}

D'Atri, Ilaria ^{[3
]}

Ono, Fumihito ^{[4
,5
]}

Nelson, Ralph ^{[6
]}

Chan, Chi-Chao ^{[7
]}

Nakaya, Naoki ^{[8
]}

Ma, Zhiwei ^{[2
]}

Ma, Yan ^{[2
]}

Cai, Xiaoying ^{[9
]}

Zhang, Longhua ^{[9
]}

Lin, Siying ^{[3
]}

Hameed, Abdul ^{[3
,10
]}

Chioza, Barry A. ^{[3
]}

Hardy, Holly ^{[3
]}

Arno, Gavin ^{[11
,12
]}

Hull, Sarah ^{[11
,12
]}

Khan, Muhammad Imran ^{[13
]}

Fasham, James ^{[3
,14
]}

Harlalka, Gaurav V. ^{[3
]}

Michaelides, Michel ^{[11
,12
]}

Moore, Anthony T. ^{[11
,12
,15
]}

Akdemir, Zeynep Hande Coban ^{[16
]}

Jhangiani, Shalini ^{[17
]}

Lupski, James R. ^{[16
,17
,18
,19
]}

Cremers, Frans P. M. ^{[20
]}

Qamar, Raheel ^{[13
]}

Salman, Ahmed ^{[21
]}

Chilton, John ^{[3
]}

Self, Jay ^{[21
]}

Ayyagari, Radha ^{[22
]}

Kabir, Firoz ^{[23
,24
]}

Naeem, Muhammad Asif ^{[23
]}

Ali, Muhammad ^{[23
,24
]}

Akram, Javed ^{[25
,26
]}

Sieving, Paul A. ^{[27
]}

Riazuddin, Sheikh ^{[23
,24
,25
]}

Baple, Emma L. ^{[3
,14
]}

Riazuddin, S. Amer ^{[23
,24
]}

Crosby, Andrew H. ^{[3
]}

Hejtmancik, J. Fielding ^{[2
]}

机构：

[1] Shanghai Jiao Tong Univ, Sch Med, Shanghai Peoples Hosp 9, Dept Ophthalmol, Shanghai, Peoples R China

[2] NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA

[3] Royal Devon & Exeter NHS Fdn, RILD Wellcome Wolfson Ctr, Exeter, Devon, England

[4] NIAAA, Sect Model Synapt Syst, Lab Mol Physiol, NIH, Bethesda, MD USA

[5] Osaka Med Coll, Dept Physiol, Takatsuki, Osaka, Japan

[6] NINDS, Unit Neural Circuits, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[7] NEI, Immunol Lab, NIH, Bldg 10, Bethesda, MD 20892 USA

[8] NEI, Sect Mol Mech Glaucoma, Lab Mol & Dev Biol, NIH, Bethesda, MD 20892 USA

[9] Univ Sci & Technol China, Sch Life Sci, Hefei, Anhui, Peoples R China

[10] IBGE, Islamabad, Pakistan

[11] UCL, Inst Ophthalmol, London, England

[12] Moorfields Eye Hosp, Dept Biosci, London, England

[13] COMSATS Inst Informat Technol, Fac Sci, Islamabad, Pakistan

[14] Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter, Devon, England

[15] UCSF, Sch Med, Ophthalmol Dept, San Francisco, CA USA

[16] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[17] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[18] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[19] Texas Childrens Hosp, Houston, TX 77030 USA

[20] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands

[21] Univ Southampton, Fac Med, Southampton, Hants, England

[22] Univ Calif San Diego, Shiley Eye Inst, La Jolla, CA 92093 USA

[23] Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan

[24] Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD 21205 USA

[25] Univ Hlth Sci, Allama Iqbal Med Coll, Lahore, Pakistan

[26] Shaheed Zulfiqar Ali Bhutto Med Univ, Natl Ctr Genet Dis, Islamabad, Pakistan

[27] NEI, NIH, Bethesda, MD 20892 USA

来源：

PLOS GENETICS | 2018年 / 14卷 / 08期

基金：

英国医学研究理事会; 中国国家自然科学基金;

关键词：

ISOLATED FROG RETINA; ENDOPLASMIC-RETICULUM; ER STRESS; GENE; DYSTROPHIES; EXPRESSION; DNA;

D O I：

10.1371/journal.pgen.1007504

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：29

共 44 条

[31]

NEWMAN EA, 1980, J NEUROPHYSIOL, V43, P1355, DOI 10.1152/jn.1980.43.5.1355

[32] AVOIDING RECOMPUTATION IN LINKAGE ANALYSIS [J].

SCHAFFER, AA ;

GUPTA, SK ;

SHRIRAM, K ;

COTTINGHAM, RW .

HUMAN HEREDITY, 1994, 44 (04) :225-237

[33] ER Stress in Retinal Degeneration in S334ter Rho Rats [J].

Shinde, Vishal M. ;

Sizova, Olga S. ;

Lin, Jonathan H. ;

LaVail, Matthew M. ;

Gorbatyuk, Marina S. .

PLOS ONE, 2012, 7 (03)

[34] STUDIES ON MASS RECEPTOR POTENTIAL OF ISOLATED FROG RETINA .1. GENERAL PROPERTIES OF RESPONSE [J].

SILLMAN, AJ ;

ITO, H ;

TOMITA, T .

VISION RESEARCH, 1969, 9 (12) :1435-&

[35] STUDIES ON MASS RECEPTOR POTENTIAL OF ISOLATED FROG RETINA .2. ON BASIS OF IONIC MECHANISM [J].

SILLMAN, AJ ;

ITO, H ;

TOMITA, T .

VISION RESEARCH, 1969, 9 (12) :1443-&

[36] A conditional knockout resource for the genome-wide study of mouse gene function [J].

Skarnes, William C. ;

Rosen, Barry ;

West, Anthony P. ;

Koutsourakis, Manousos ;

Bushell, Wendy ;

Iyer, Vivek ;

Mujica, Alejandro O. ;

Thomas, Mark ;

Harrow, Jennifer ;

Cox, Tony ;

Jackson, David ;

Severin, Jessica ;

Biggs, Patrick ;

Fu, Jun ;

Nefedov, Michael ;

de Jong, Pieter J. ;

Stewart, A. Francis ;

Bradley, Allan .

NATURE, 2011, 474 (7351) :337-U361

[37] Disruption of CIC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus [J].

Stobrawa, SM ;

Breiderhoff, T ;

Takamori, S ;

Engel, D ;

Schweizer, M ;

Zdebik, AA ;

Bösl, MR ;

Ruether, K ;

Jahn, H ;

Draguhn, A ;

Jahn, R ;

Jentsch, TJ .

NEURON, 2001, 29 (01) :185-196

[38] A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa [J].

Tanackovic, Goranka ;

Ransijn, Adriana ;

Ayuso, Carmen ;

Harper, Shyana ;

Berson, Eliot L. ;

Rivolta, Carlo .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (05) :643-649

[39]

TOYAMA R, 1995, DEVELOPMENT, V121, P383

[40] Age at onset curves of retinitis pigmentosa [J].

Tsujikawa, Motokazu ;

Wada, Yuko ;

Sukegawa, Marie ;

Sawa, Miki ;

Gomi, Fumi ;

Nishida, Kohji ;

Tano, Yasuo .

ARCHIVES OF OPHTHALMOLOGY, 2008, 126 (03) :337-340

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