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A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa

文献类型：期刊论文

作者Zhou, Yu3,4; Li, Shujin2,4; Huang, Lulin3,4; Yang, Yeming3,4; Zhang, Lin3,4; Yang, Mu2; Liu, Wenjing4; Ramasamy, Kim1; Jiang, Zhilin3,4; Sundaresan, Periasamy6
刊名HUMAN MOLECULAR GENETICS
出版日期2019-07-15
卷号27期号:14页码:2563-2572
ISSN号0964-6906
DOI10.1093/hmg/ddy165
产权排序2
文献子类Article
英文摘要Retinitis pigmentosa (RP) refers to a group of retinal degenerative diseases, which often lead to vision loss. Although 70 genes have been identified in RP patients, the genetic cause of approximately 30% of RP cases remains unknown. We aimed to identify the cause of the disease in a cohort of RP families by whole exome sequencing. A rare homozygous splicing variant, c.1160+1G> A, which introduced skipping of exon 9 of the aryl hydrocarbon receptor (AHR), was identified in family RD-134. This variant is very rare in several exome databases and leads to skipping of exon 9 in the transcript. AHR is expressed in the human retina and is a ligand-activated transcription factor with multiple functions. Mutant AHR failed to promote 2, 3, 7, 8-tetra-chlorodibenzo-p-dioxin (TCDD)-induced xenobiotic responsive element (XRE) luciferase activity. In parallel, mutation in AHR abolished activation of its downstream target gene, such as CYP1A1 and CYP1A2. To investigate the in vivo roles of Ahr in the retina, we generated a retina-specific conditional knockout mouse model of Ahr. Comparing with wild-type mouse, Ahr knockout mice exhibited reduced electroretinogram responses at 9 months of age. Retinal histology revealed retinal histology showed the degeneration of photoreceptors with a thinner outer nuclear layer. Thus, our data demonstrate that AHR is associated with RP.
学科主题Molecular Biology ; Genetics
URL标识查看原文
WOS关键词INHERITED RETINAL DYSTROPHIES ; AH-RECEPTOR ; LIGAND-BINDING ; GENE ; PREVALENCE ; IDENTIFICATION ; DEGENERATION ; MICE ; CRB1 ; POLYMORPHISM
WOS研究方向Biochemistry & Molecular Biology ; Genetics & Heredity
语种英语
WOS记录号WOS:000438579900012
出版者OXFORD UNIV PRESS
源URL[http://210.75.237.14/handle/351003/30205]  
专题国家天然药物工程技术研究中心_天然产物研究
天然产物研究中心_中国科学院四川转化医学研究院
作者单位1.Aravind Eye Hosp, Retina Vitreous Serv, Madurai, Tamil Nadu, India;
2.Chinese Acad Sci, Chengdu Inst Biol, Sichuan Translat Med Res Hosp, Chengdu 610072, Sichuan, Peoples R China;
3.Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China;
4.Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu 610072, Sichuan, Peoples R China;
5.Sichuan Acad Med Sci, Inst Lab Anim Sci, Chengdu 610072, Sichuan, Peoples R China;
6.Aravind Eye Hosp, Dept Genet, Aravind Med Res Fdn, Madurai, Tamil Nadu, India
推荐引用方式
GB/T 7714		 Zhou, Yu,Li, Shujin,Huang, Lulin,et al. A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa[J]. HUMAN MOLECULAR GENETICS,2019,27(14):2563-2572.
APA Zhou, Yu.,Li, Shujin.,Huang, Lulin.,Yang, Yeming.,Zhang, Lin.,...&Yang, Zhenglin.(2019).A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.HUMAN MOLECULAR GENETICS,27(14),2563-2572.
MLA Zhou, Yu,et al."A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa".HUMAN MOLECULAR GENETICS 27.14(2019):2563-2572.

入库方式： OAI收割

来源：成都生物研究所

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