Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
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 1 . Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of photo...
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| Veröffentlicht in: | Nature genetics 2000-02, Vol.24 (2), p.127-131 |
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| creator | 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. |
| description | 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
1
. 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
2
,
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 development
7
. 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
9
. 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. |
| doi_str_mv | 10.1038/72777 |
| format | Article |
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1
. 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
2
,
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 development
7
. 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
9
. 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.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/72777</identifier><identifier>PMID: 10655056</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Agriculture ; Amino Acid Sequence ; Amino Acid Substitution ; Animal Genetics and Genomics ; Animals ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Chickens ; Diagnosis ; Drosophila - genetics ; enhanced S-cone syndrome ; Female ; Gene Function ; Genetic aspects ; Human Genetics ; Humans ; Introns ; letter ; Male ; Medical sciences ; Mice ; Molecular Sequence Data ; Mutation ; night blindness ; NR2E3 gene ; Ophthalmology ; Ophthalmoscope and ophthalmoscopy ; Orphan Nuclear Receptors ; Pedigree ; Photoreception ; Photoreceptors ; PNR gene ; Polymorphism, Single-Stranded Conformational ; Receptors, Cytoplasmic and Nuclear - genetics ; Retina ; Retina - metabolism ; Retina - pathology ; Retina - physiopathology ; Retinal Cone Photoreceptor Cells - pathology ; Retinal Cone Photoreceptor Cells - physiopathology ; Retinal degeneration ; Retinal Degeneration - genetics ; Retinal Degeneration - pathology ; Retinal Degeneration - physiopathology ; Retinopathies ; Sequence Alignment ; Sequence Deletion ; Sequence Homology, Amino Acid ; Syndrome ; Topography ; Transcription Factors - genetics ; Xenopus laevis</subject><ispartof>Nature genetics, 2000-02, Vol.24 (2), p.127-131</ispartof><rights>Nature America Inc. 2000</rights><rights>2000 INIST-CNRS</rights><rights>COPYRIGHT 2000 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Feb 2000</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-be00a5cab27479af6837e8479ee5bf32f43f7d37e258e4d1aed738e4f59d57d33</citedby><cites>FETCH-LOGICAL-c498t-be00a5cab27479af6837e8479ee5bf32f43f7d37e258e4d1aed738e4f59d57d33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/72777$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/72777$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1327681$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10655056$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Haider, Neena B.</creatorcontrib><creatorcontrib>Jacobson, Samuel G.</creatorcontrib><creatorcontrib>Cideciyan, Artur V.</creatorcontrib><creatorcontrib>Swiderski, Ruth</creatorcontrib><creatorcontrib>Streb, Luan M.</creatorcontrib><creatorcontrib>Searby, Charles</creatorcontrib><creatorcontrib>Beck, Gretel</creatorcontrib><creatorcontrib>Hockey, Robin</creatorcontrib><creatorcontrib>Hanna, David B.</creatorcontrib><creatorcontrib>Gorman, Susan</creatorcontrib><creatorcontrib>Duhl, David</creatorcontrib><creatorcontrib>Carmi, Rivka</creatorcontrib><creatorcontrib>Bennett, Jean</creatorcontrib><creatorcontrib>Weleber, Richard G.</creatorcontrib><creatorcontrib>Fishman, Gerald A.</creatorcontrib><creatorcontrib>Wright, Alan F.</creatorcontrib><creatorcontrib>Stone, Edwin M.</creatorcontrib><creatorcontrib>Sheffield, Val C.</creatorcontrib><title>Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>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
1
. 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
2
,
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 development
7
. 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
9
. 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.</description><subject>Agriculture</subject><subject>Amino Acid Sequence</subject><subject>Amino Acid Substitution</subject><subject>Animal Genetics and Genomics</subject><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Chickens</subject><subject>Diagnosis</subject><subject>Drosophila - genetics</subject><subject>enhanced S-cone syndrome</subject><subject>Female</subject><subject>Gene Function</subject><subject>Genetic aspects</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Introns</subject><subject>letter</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mice</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>night blindness</subject><subject>NR2E3 gene</subject><subject>Ophthalmology</subject><subject>Ophthalmoscope and ophthalmoscopy</subject><subject>Orphan Nuclear Receptors</subject><subject>Pedigree</subject><subject>Photoreception</subject><subject>Photoreceptors</subject><subject>PNR gene</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Receptors, Cytoplasmic and Nuclear - genetics</subject><subject>Retina</subject><subject>Retina - metabolism</subject><subject>Retina - pathology</subject><subject>Retina - physiopathology</subject><subject>Retinal Cone Photoreceptor Cells - pathology</subject><subject>Retinal Cone Photoreceptor Cells - physiopathology</subject><subject>Retinal degeneration</subject><subject>Retinal Degeneration - genetics</subject><subject>Retinal Degeneration - pathology</subject><subject>Retinal Degeneration - physiopathology</subject><subject>Retinopathies</subject><subject>Sequence Alignment</subject><subject>Sequence Deletion</subject><subject>Sequence Homology, Amino Acid</subject><subject>Syndrome</subject><subject>Topography</subject><subject>Transcription Factors - genetics</subject><subject>Xenopus laevis</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqNkt9rFDEQx4Motp79FySICkK35ucm91hKq4VqoVVfl1wyObfsJtckC_a_b653cJ4vmjxkmPnMJPPNIHREyQklXH9STCn1DB1SKdqGKqqfV5u0tBGEtwfoVc53hFAhiH6JDmpASiLbQzR8nYopfQw4emxwmOwAJuEEFlYlJryEAMf42w0758fYmilDxhB-mWDB4VtsYwCcH4JLcaycwa7PMTlI63IJSh_MgC0MA_amwGv0wpshw9H2nKEfF-ffz740V9efL89Orxor5ro0CyDESGsWTAk1N77VXIGuJoBceM684F656mNSg3DUgFO8Wl7OnawBPkMfNnVXKd5PkEs39nn9ChMgTrlTRCstNPsnSJUkXFYFZ-jtX-BdnFJtLneMsfZpVehkAy3NAF0ffCzJ2LodjP1aKd9X_ynVXHDVsnlN-LiXUJkCv8uyypy7y9ub_2evf-6z7zesTTHnBL5bpX406aGjpFtPS_c0LZV7s-1qWozg_qA241GBd1vAZGsGn-q_93nHcaZaTXcy5hoJS0g7dfYvfAQoH84a</recordid><startdate>20000201</startdate><enddate>20000201</enddate><creator>Haider, Neena B.</creator><creator>Jacobson, Samuel G.</creator><creator>Cideciyan, Artur V.</creator><creator>Swiderski, Ruth</creator><creator>Streb, Luan M.</creator><creator>Searby, Charles</creator><creator>Beck, Gretel</creator><creator>Hockey, Robin</creator><creator>Hanna, David B.</creator><creator>Gorman, Susan</creator><creator>Duhl, David</creator><creator>Carmi, Rivka</creator><creator>Bennett, Jean</creator><creator>Weleber, Richard G.</creator><creator>Fishman, Gerald A.</creator><creator>Wright, Alan F.</creator><creator>Stone, Edwin M.</creator><creator>Sheffield, Val C.</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20000201</creationdate><title>Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate</title><author>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.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-be00a5cab27479af6837e8479ee5bf32f43f7d37e258e4d1aed738e4f59d57d33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Agriculture</topic><topic>Amino Acid Sequence</topic><topic>Amino Acid Substitution</topic><topic>Animal Genetics and Genomics</topic><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Chickens</topic><topic>Diagnosis</topic><topic>Drosophila - genetics</topic><topic>enhanced S-cone syndrome</topic><topic>Female</topic><topic>Gene Function</topic><topic>Genetic aspects</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Introns</topic><topic>letter</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mice</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>night blindness</topic><topic>NR2E3 gene</topic><topic>Ophthalmology</topic><topic>Ophthalmoscope and ophthalmoscopy</topic><topic>Orphan Nuclear Receptors</topic><topic>Pedigree</topic><topic>Photoreception</topic><topic>Photoreceptors</topic><topic>PNR gene</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Receptors, Cytoplasmic and Nuclear - genetics</topic><topic>Retina</topic><topic>Retina - metabolism</topic><topic>Retina - pathology</topic><topic>Retina - physiopathology</topic><topic>Retinal Cone Photoreceptor Cells - pathology</topic><topic>Retinal Cone Photoreceptor Cells - physiopathology</topic><topic>Retinal degeneration</topic><topic>Retinal Degeneration - genetics</topic><topic>Retinal Degeneration - pathology</topic><topic>Retinal Degeneration - physiopathology</topic><topic>Retinopathies</topic><topic>Sequence Alignment</topic><topic>Sequence Deletion</topic><topic>Sequence Homology, Amino Acid</topic><topic>Syndrome</topic><topic>Topography</topic><topic>Transcription Factors - genetics</topic><topic>Xenopus laevis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Haider, Neena B.</creatorcontrib><creatorcontrib>Jacobson, Samuel G.</creatorcontrib><creatorcontrib>Cideciyan, Artur V.</creatorcontrib><creatorcontrib>Swiderski, Ruth</creatorcontrib><creatorcontrib>Streb, Luan M.</creatorcontrib><creatorcontrib>Searby, Charles</creatorcontrib><creatorcontrib>Beck, Gretel</creatorcontrib><creatorcontrib>Hockey, Robin</creatorcontrib><creatorcontrib>Hanna, David B.</creatorcontrib><creatorcontrib>Gorman, Susan</creatorcontrib><creatorcontrib>Duhl, David</creatorcontrib><creatorcontrib>Carmi, Rivka</creatorcontrib><creatorcontrib>Bennett, Jean</creatorcontrib><creatorcontrib>Weleber, Richard G.</creatorcontrib><creatorcontrib>Fishman, Gerald A.</creatorcontrib><creatorcontrib>Wright, Alan F.</creatorcontrib><creatorcontrib>Stone, Edwin M.</creatorcontrib><creatorcontrib>Sheffield, Val C.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Haider, Neena B.</au><au>Jacobson, Samuel G.</au><au>Cideciyan, Artur V.</au><au>Swiderski, Ruth</au><au>Streb, Luan M.</au><au>Searby, Charles</au><au>Beck, Gretel</au><au>Hockey, Robin</au><au>Hanna, David B.</au><au>Gorman, Susan</au><au>Duhl, David</au><au>Carmi, Rivka</au><au>Bennett, Jean</au><au>Weleber, Richard G.</au><au>Fishman, Gerald A.</au><au>Wright, Alan F.</au><au>Stone, Edwin M.</au><au>Sheffield, Val C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2000-02-01</date><risdate>2000</risdate><volume>24</volume><issue>2</issue><spage>127</spage><epage>131</epage><pages>127-131</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><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
1
. 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
2
,
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 development
7
. 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
9
. 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.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>10655056</pmid><doi>10.1038/72777</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1061-4036 |
| ispartof | Nature genetics, 2000-02, Vol.24 (2), p.127-131 |
| issn | 1061-4036 1546-1718 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_70878482 |
| source | MEDLINE; SpringerLink Journals; Nature |
| subjects | Agriculture Amino Acid Sequence Amino Acid Substitution Animal Genetics and Genomics Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Chickens Diagnosis Drosophila - genetics enhanced S-cone syndrome Female Gene Function Genetic aspects Human Genetics Humans Introns letter Male Medical sciences Mice Molecular Sequence Data Mutation night blindness NR2E3 gene Ophthalmology Ophthalmoscope and ophthalmoscopy Orphan Nuclear Receptors Pedigree Photoreception Photoreceptors PNR gene Polymorphism, Single-Stranded Conformational Receptors, Cytoplasmic and Nuclear - genetics Retina Retina - metabolism Retina - pathology Retina - physiopathology Retinal Cone Photoreceptor Cells - pathology Retinal Cone Photoreceptor Cells - physiopathology Retinal degeneration Retinal Degeneration - genetics Retinal Degeneration - pathology Retinal Degeneration - physiopathology Retinopathies Sequence Alignment Sequence Deletion Sequence Homology, Amino Acid Syndrome Topography Transcription Factors - genetics Xenopus laevis |
| title | Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate |
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