PMID- 10655056
OWN - NLM
STAT- MEDLINE
DCOM- 20000228
LR  - 20091119
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 24
IP  - 2
DP  - 2000 Feb
TI  - Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a
      disorder of retinal cell fate.
PG  - 127-31
AB  - 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.
FAU - Haider, N B
AU  - Haider NB
AD  - Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa, USA.
FAU - Jacobson, S G
AU  - Jacobson SG
FAU - Cideciyan, A V
AU  - Cideciyan AV
FAU - Swiderski, R
AU  - Swiderski R
FAU - Streb, L M
AU  - Streb LM
FAU - Searby, C
AU  - Searby C
FAU - Beck, G
AU  - Beck G
FAU - Hockey, R
AU  - Hockey R
FAU - Hanna, D B
AU  - Hanna DB
FAU - Gorman, S
AU  - Gorman S
FAU - Duhl, D
AU  - Duhl D
FAU - Carmi, R
AU  - Carmi R
FAU - Bennett, J
AU  - Bennett J
FAU - Weleber, R G
AU  - Weleber RG
FAU - Fishman, G A
AU  - Fishman GA
FAU - Wright, A F
AU  - Wright AF
FAU - Stone, E M
AU  - Stone EM
FAU - Sheffield, V C
AU  - Sheffield VC
LA  - eng
GR  - EY05627/EY/NEI NIH HHS/United States
GR  - EY10539/EY/NEI NIH HHS/United States
GR  - EY11298/EY/NEI NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (NR2E3 protein, human)
RN  - 0 (Nr2e3 protein, mouse)
RN  - 0 (Orphan Nuclear Receptors)
RN  - 0 (Receptors, Cytoplasmic and Nuclear)
RN  - 0 (Transcription Factors)
SB  - IM
CIN - Nat Genet. 2000 Feb;24(2):99-100. PMID: 10655045
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Animals
MH  - Chickens
MH  - Drosophila/genetics
MH  - Female
MH  - Humans
MH  - Introns
MH  - Male
MH  - Mice
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Orphan Nuclear Receptors
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - Receptors, Cytoplasmic and Nuclear/*genetics
MH  - Retina/metabolism/pathology/physiopathology
MH  - Retinal Cone Photoreceptor Cells/pathology/*physiopathology
MH  - Retinal Degeneration/*genetics/pathology/physiopathology
MH  - Sequence Alignment
MH  - *Sequence Deletion
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
MH  - Transcription Factors/*genetics
MH  - Xenopus laevis
EDAT- 2000/02/02 09:00
MHDA- 2000/03/04 09:00
CRDT- 2000/02/02 09:00
PHST- 2000/02/02 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 2000/02/02 09:00 [entrez]
AID - 10.1038/72777 [doi]
PST - ppublish
SO  - Nat Genet. 2000 Feb;24(2):127-31. doi: 10.1038/72777.