Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish
作者： Shanglun Xie , Shanshan Han , Zhen Qu , Fei Liu , Jingzhen Li
DOI: 10.1016/J.BBADIS.2019.01.022
关键词:
摘要: Abstract Mutations in the photoreceptor cell-specific nuclear receptor gene Nr2e3 increased number of S-cone photoreceptors human and murine retinas led to retinal degeneration that involved non-photoreceptor cells. The mechanisms underlying these complex phenotypes remain unclear. In hope understanding precise role cell fate determination differentiation, we generated a line knockout zebrafish using CRISPR technology. Nr2e3-null animals, rod precursors undergo terminal mitoses but fail differentiate as rods. Rod-specific genes are not expressed outer segment (OS) fails form. Formation differentiation cone is normal. Specifically, there no increase UV-cone or photoreceptors. Laminated structure maintained. After normal development, L-/M-cones selectively degenerate, with progressive shortening OS starts at age 1 month. amount phototransduction proteins concomitantly reduced, whereas UV- S-cones have lengths even 10 months. vitro studies show synergizes Crx Nrl enhance rhodopsin expression. does affect opsin Our results extend knowledge Nr2e3's roles specific implications for interpretation observed retinas. Furthermore, our model may offer new opportunities finding treatments enhanced syndrome (ESCS) other degenerative diseases.
sci-hub.se 参考文章(64)
Keely M. Bumsted O’Brien, Hong Cheng, Yibin Jiang, Dorothea Schulte, Anand Swaroop, Anita E. Hendrickson, Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina. Investigative Ophthalmology & Visual Science. ,vol. 45, pp. 2807- 2812 ,(2004) , 10.1167/IOVS.03-1317
David A.R. Bessant, Annette M. Payne, Kenneth P. Mitton, Qing-Liang Wang, Prabodha K. Swain, Catherine Plant, Alan C. Bird, Donald J. Zack, Anand Swaroop, Shomi S. Bhattacharya, A mutation in NRL is associated with autosomal dominant retinitis pigmentosa Nature Genetics. ,vol. 21, pp. 355- 356 ,(1999) , 10.1038/7678
Alan J. Mears, Mineo Kondo, Prabodha K. Swain, Yuichiro Takada, Ronald A. Bush, Thomas L. Saunders, Paul A. Sieving, Anand Swaroop, Nrl is required for rod photoreceptor development Nature Genetics. ,vol. 29, pp. 447- 452 ,(2001) , 10.1038/NG774
Shin-ichiro Takezawa, Yasuo Yanagi, Shigeaki Kato, Distinct functions of photoreceptor cell-specific nuclear receptor, thyroid hormone receptor beta2 and CRX in one photoreceptor development. Investigative Ophthalmology & Visual Science. ,vol. 43, pp. 3489- 3494 ,(2002)
Takahisa Furukawa, Eric M. Morrow, Tiansen Li, Fred C. Davis, Constance L. Cepko, Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nature Genetics. ,vol. 23, pp. 466- 470 ,(1999) , 10.1038/70591
Fei Liu, Jiaxiang Chen, Shanshan Yu, Rakesh Kotapati Raghupathy, Xiliang Liu, Yayun Qin, Chang Li, Mi Huang, Shengjie Liao, Jiuxiang Wang, Jian Zou, Xinhua Shu, Zhaohui Tang, Mugen Liu, Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish Human Molecular Genetics. ,vol. 24, pp. 4648- 4659 ,(2015) , 10.1093/HMG/DDV197
R. Bremiller, K.D. Larison, Early onset of phenotype and cell patterning in the embryonic zebrafish retina. Development. ,vol. 109, pp. 567- 576 ,(1990) , 10.1242/DEV.109.3.567
Jichao Chen, Amir Rattner, Jeremy Nathans, The Rod Photoreceptor-Specific Nuclear Receptor Nr2e3 Represses Transcription of Multiple Cone-Specific Genes The Journal of Neuroscience. ,vol. 25, pp. 118- 129 ,(2005) , 10.1523/JNEUROSCI.3571-04.2005
Neena B Haider, Samuel G Jacobson, Artur V Cideciyan, Ruth Swiderski, Luan M Streb, Charles Searby, Gretel Beck, Robin Hockey, David B Hanna, Susan Gorman, David Duhl, Rivka Carmi, Jean Bennett, Richard G Weleber, Gerald A Fishman, Alan F Wright, Edwin M Stone, Val C Sheffield, None, Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate Nature Genetics. ,vol. 24, pp. 127- 131 ,(2000) , 10.1038/72777
Steve M. Nelson, Ruth A. Frey, Sheri L. Wardwell, Deborah L. Stenkamp, The Developmental Sequence of Gene Expression Within the Rod Photoreceptor Lineage in Embryonic Zebrafish Developmental Dynamics. ,vol. 237, pp. 2903- 2917 ,(2008) , 10.1002/DVDY.21721