Journal article
Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate
Nature genetics, Vol.24(2), pp.127-131
02/2000
DOI: 10.1038/72777
PMID: 10655056
Abstract
Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function1. Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of photoreceptors. ESCS is an autosomal recessive retinopathy in which patients have an increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones2,3,4,5,6,7,8. People with ESCS also suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. The altered ratio of S- to L/M-cone photoreceptor sensitivity in ESCS may be due to abnormal cone cell fate determination during retinal development7. In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor9. Expression of NR2E3 was limited to the outer nuclear layer of the human retina. Our results suggest that NR2E3 has a role in determining photoreceptor phenotype during human retinogenesis.
Details
- Title: Subtitle
- Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate
- Creators
- Neena B Haider - Howard Hughes Medical Institute Department of PediatricsSamuel G Jacobson - Department of Ophthalmology, Scheie Eye Institute, University of PennsylvaniaArtur V Cideciyan - Department of Ophthalmology, Scheie Eye Institute, University of PennsylvaniaRuth Swiderski - Howard Hughes Medical Institute Department of PediatricsLuan M Streb - University of Iowa, The University of Iowa Institute for Vision ResearchCharles Searby - University of Iowa, Stead Family Department of PediatricsGretel Beck - Howard Hughes Medical Institute Department of PediatricsRobin Hockey - Howard Hughes Medical Institute Department of PediatricsDavid B Hanna - Department of Ophthalmology, Scheie Eye Institute, University of PennsylvaniaSusan Gorman - Chiron CorporationDavid Duhl - Chiron CorporationRivka Carmi - Genetics Institute, Soroka Medical Center, Ben-Gurion University of the NegevJean Bennett - Department of Ophthalmology, Scheie Eye Institute, University of PennsylvaniaRichard G Weleber - Casey Eye Institute, Oregon Health Sciences UniversityGerald A Fishman - Department of Ophthalmology, University of Illinois College of MedicineAlan F Wright - University of EdinburghEdwin M Stone - University of Iowa, Ophthalmology and Visual SciencesVal C Sheffield - University of Iowa, Stead Family Department of Pediatrics
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.24(2), pp.127-131
- DOI
- 10.1038/72777
- PMID
- 10655056
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 02/2000
- Academic Unit
- Stead Family Department of Pediatrics; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980092902771
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