Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

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

Research output: Contribution to journalArticle

331 Citations (Scopus)

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 function. 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) cones. 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 development. 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 factor. 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.

Original languageEnglish (US)
Pages (from-to)127-131
Number of pages5
JournalNature Genetics
Volume24
Issue number2
DOIs
StatePublished - Feb 2000
Externally publishedYes

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Cytoplasmic and Nuclear Receptors
Mutation
Retinal Cone Photoreceptor Cells
Retinal Diseases
Genes
Night Blindness
Light
Retina
Transcription Factors
Cell Count
Enhanced S-Cone Syndrome
Apoptosis
Ligands
Phenotype

ASJC Scopus subject areas

  • Genetics

Cite this

Haider, N. B., Jacobson, S. G., Cideciyan, A. V., Swiderski, R., Streb, L. M., Searby, C., ... Sheffield, V. C. (2000). Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics, 24(2), 127-131. https://doi.org/10.1038/72777

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. / Haider, Neena B.; Jacobson, Samuel G.; Cideciyan, Artur V.; Swiderski, Ruth; Streb, Luan M.; Searby, Charles; Beck, Gretel; Hockey, Robin; Hanna, David B.; Gorman, Susan; Duhl, David; Carmi, Rivka; Bennett, Jean; Weleber, Richard G.; Fishman, Gerald A.; Wright, Alan F.; Stone, Edwin M.; Sheffield, Val C.

In: Nature Genetics, Vol. 24, No. 2, 02.2000, p. 127-131.

Research output: Contribution to journalArticle

Haider, NB, Jacobson, SG, Cideciyan, AV, Swiderski, R, Streb, LM, Searby, C, Beck, G, Hockey, R, Hanna, DB, Gorman, S, Duhl, D, Carmi, R, Bennett, J, Weleber, RG, Fishman, GA, Wright, AF, Stone, EM & Sheffield, VC 2000, 'Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate', Nature Genetics, vol. 24, no. 2, pp. 127-131. https://doi.org/10.1038/72777
Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics. 2000 Feb;24(2):127-131. https://doi.org/10.1038/72777
Haider, Neena B. ; Jacobson, Samuel G. ; Cideciyan, Artur V. ; Swiderski, Ruth ; Streb, Luan M. ; Searby, Charles ; Beck, Gretel ; Hockey, Robin ; Hanna, David B. ; Gorman, Susan ; Duhl, David ; Carmi, Rivka ; Bennett, Jean ; Weleber, Richard G. ; Fishman, Gerald A. ; Wright, Alan F. ; Stone, Edwin M. ; Sheffield, Val C. / Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. In: Nature Genetics. 2000 ; Vol. 24, No. 2. pp. 127-131.
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