Mutations in RPE65 cause Leber's congenital amaurosis
RPE65 is a 65-kD protein specific to the retinal pigment epithelium (RPE; refs 1,2), a monolayer epithelium in close contact with the photoreceptor outer segments. Although the precise role of RPE65 remains unclear, its participation in retinoid metabolism seems certain, and implies a functional rel...
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| Veröffentlicht in: | Nature genetics 1997-10, Vol.17 (2), p.139-141 |
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| container_title | Nature genetics |
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| creator | Harris, Eddie Claustres, Mireille Liu, Su-Yan Zrenner, Eberhart Amalric, Pierre Hamel, Christian P Griffoin, Jean-Michel Bareil, Corinne Redmond, T. Michael Marlhens, Françoise Arnaud, Bernard Eliaou, Claudie |
| description | RPE65 is a 65-kD protein specific to the retinal pigment epithelium (RPE; refs 1,2), a monolayer epithelium in close contact with the photoreceptor outer segments. Although the precise role of RPE65 remains unclear, its participation in retinoid metabolism seems certain, and implies a functional relationship of RPE65 with photoreceptor physiology. Given that mutations in photoreceptor-specific genes cause retinal dystrophies, and assuming that a genetic defect in a photoreceptor-related function of RPE, as in the absence of RPE65, might cause an early degeneration of photoreceptors, mutations in the RPE65 gene were sought in patients with Leber's congenital amaurosis (LCA), a disorder characterized by blindness at birth. We sequenced the human RPE65 gene, which contains fourteen coding exons spanning 20 kb. Twelve unrelated LCA patients from whom informed consent had been obtained were screened. |
| doi_str_mv | 10.1038/ng1097-139 |
| format | Article |
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Michael ; Marlhens, Françoise ; Arnaud, Bernard ; Eliaou, Claudie</creator><creatorcontrib>Harris, Eddie ; Claustres, Mireille ; Liu, Su-Yan ; Zrenner, Eberhart ; Amalric, Pierre ; Hamel, Christian P ; Griffoin, Jean-Michel ; Bareil, Corinne ; Redmond, T. Michael ; Marlhens, Françoise ; Arnaud, Bernard ; Eliaou, Claudie</creatorcontrib><description>RPE65 is a 65-kD protein specific to the retinal pigment epithelium (RPE; refs 1,2), a monolayer epithelium in close contact with the photoreceptor outer segments. Although the precise role of RPE65 remains unclear, its participation in retinoid metabolism seems certain, and implies a functional relationship of RPE65 with photoreceptor physiology. Given that mutations in photoreceptor-specific genes cause retinal dystrophies, and assuming that a genetic defect in a photoreceptor-related function of RPE, as in the absence of RPE65, might cause an early degeneration of photoreceptors, mutations in the RPE65 gene were sought in patients with Leber's congenital amaurosis (LCA), a disorder characterized by blindness at birth. We sequenced the human RPE65 gene, which contains fourteen coding exons spanning 20 kb. Twelve unrelated LCA patients from whom informed consent had been obtained were screened.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng1097-139</identifier><identifier>PMID: 9326927</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Adolescent ; Adult ; Agriculture ; Animal Genetics and Genomics ; Base Sequence ; Biomedical and Life Sciences ; Biomedicine ; Blindness - congenital ; Blindness - genetics ; Cancer Research ; Carrier Proteins ; cis-trans-Isomerases ; correspondence ; DNA - genetics ; DNA Mutational Analysis ; DNA Primers - genetics ; Eye Proteins - genetics ; Female ; Gene Function ; Human Genetics ; Humans ; Male ; Mutation ; Optic Atrophies, Hereditary - genetics ; Pedigree ; Polymerase Chain Reaction ; Proteins</subject><ispartof>Nature genetics, 1997-10, Vol.17 (2), p.139-141</ispartof><rights>Springer Nature America, Inc. 1997</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c481t-24ed08ecfa89e947dd2058a1d57c5ddb04350ada67a5dacbcae2335d82aabb7c3</citedby><cites>FETCH-LOGICAL-c481t-24ed08ecfa89e947dd2058a1d57c5ddb04350ada67a5dacbcae2335d82aabb7c3</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/ng1097-139$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng1097-139$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,2726,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9326927$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Harris, Eddie</creatorcontrib><creatorcontrib>Claustres, Mireille</creatorcontrib><creatorcontrib>Liu, Su-Yan</creatorcontrib><creatorcontrib>Zrenner, Eberhart</creatorcontrib><creatorcontrib>Amalric, Pierre</creatorcontrib><creatorcontrib>Hamel, Christian P</creatorcontrib><creatorcontrib>Griffoin, Jean-Michel</creatorcontrib><creatorcontrib>Bareil, Corinne</creatorcontrib><creatorcontrib>Redmond, T. Michael</creatorcontrib><creatorcontrib>Marlhens, Françoise</creatorcontrib><creatorcontrib>Arnaud, Bernard</creatorcontrib><creatorcontrib>Eliaou, Claudie</creatorcontrib><title>Mutations in RPE65 cause Leber's congenital amaurosis</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>RPE65 is a 65-kD protein specific to the retinal pigment epithelium (RPE; refs 1,2), a monolayer epithelium in close contact with the photoreceptor outer segments. Although the precise role of RPE65 remains unclear, its participation in retinoid metabolism seems certain, and implies a functional relationship of RPE65 with photoreceptor physiology. Given that mutations in photoreceptor-specific genes cause retinal dystrophies, and assuming that a genetic defect in a photoreceptor-related function of RPE, as in the absence of RPE65, might cause an early degeneration of photoreceptors, mutations in the RPE65 gene were sought in patients with Leber's congenital amaurosis (LCA), a disorder characterized by blindness at birth. We sequenced the human RPE65 gene, which contains fourteen coding exons spanning 20 kb. Twelve unrelated LCA patients from whom informed consent had been obtained were screened.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Base Sequence</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Blindness - congenital</subject><subject>Blindness - genetics</subject><subject>Cancer Research</subject><subject>Carrier Proteins</subject><subject>cis-trans-Isomerases</subject><subject>correspondence</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>DNA Primers - genetics</subject><subject>Eye Proteins - genetics</subject><subject>Female</subject><subject>Gene Function</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>Optic Atrophies, Hereditary - genetics</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Proteins</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1LxDAQhoMoq65evAs9KSjVfDbJUZb1A1YU0XOZJtmlS5uuSXvw3xvpsl4ETzPwPrwwzyB0RvANwUzd-hXBWuaE6T10RAQvciKJ2k87LkjOMSsO0XGMa4wJ51hN0EQzWmgqj5B4Hnro687HrPbZ2-u8EJmBIbps4SoXLmNmOr9yvu6hyaCFIXSxjifoYAlNdKfbOUUf9_P32WO-eHl4mt0tcsMV6XPKncXKmSUo7TSX1lIsFBArpBHWVpgzgcFCIUFYMJUBRxkTVlGAqpKGTdHF2LsJ3efgYl-2dTSuacC7boil1IxgURT_gkRSSpnmCbwaQZMOicEty02oWwhfJcHlj8xylFkmmQk-37YOVevsDt3aS_n1mMeUJEuhXHdD8MnI323ZSHvoh-B2bb_fY987Zodm</recordid><startdate>19971001</startdate><enddate>19971001</enddate><creator>Harris, Eddie</creator><creator>Claustres, Mireille</creator><creator>Liu, Su-Yan</creator><creator>Zrenner, Eberhart</creator><creator>Amalric, Pierre</creator><creator>Hamel, Christian P</creator><creator>Griffoin, Jean-Michel</creator><creator>Bareil, Corinne</creator><creator>Redmond, T. Michael</creator><creator>Marlhens, Françoise</creator><creator>Arnaud, Bernard</creator><creator>Eliaou, Claudie</creator><general>Nature Publishing Group US</general><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19971001</creationdate><title>Mutations in RPE65 cause Leber's congenital amaurosis</title><author>Harris, Eddie ; Claustres, Mireille ; Liu, Su-Yan ; Zrenner, Eberhart ; Amalric, Pierre ; Hamel, Christian P ; Griffoin, Jean-Michel ; Bareil, Corinne ; Redmond, T. Michael ; Marlhens, Françoise ; Arnaud, Bernard ; Eliaou, Claudie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c481t-24ed08ecfa89e947dd2058a1d57c5ddb04350ada67a5dacbcae2335d82aabb7c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Base Sequence</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Blindness - congenital</topic><topic>Blindness - genetics</topic><topic>Cancer Research</topic><topic>Carrier Proteins</topic><topic>cis-trans-Isomerases</topic><topic>correspondence</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>DNA Primers - genetics</topic><topic>Eye Proteins - genetics</topic><topic>Female</topic><topic>Gene Function</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation</topic><topic>Optic Atrophies, Hereditary - genetics</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Proteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Harris, Eddie</creatorcontrib><creatorcontrib>Claustres, Mireille</creatorcontrib><creatorcontrib>Liu, Su-Yan</creatorcontrib><creatorcontrib>Zrenner, Eberhart</creatorcontrib><creatorcontrib>Amalric, Pierre</creatorcontrib><creatorcontrib>Hamel, Christian P</creatorcontrib><creatorcontrib>Griffoin, Jean-Michel</creatorcontrib><creatorcontrib>Bareil, Corinne</creatorcontrib><creatorcontrib>Redmond, T. 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Michael</au><au>Marlhens, Françoise</au><au>Arnaud, Bernard</au><au>Eliaou, Claudie</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in RPE65 cause Leber's congenital amaurosis</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>1997-10-01</date><risdate>1997</risdate><volume>17</volume><issue>2</issue><spage>139</spage><epage>141</epage><pages>139-141</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><abstract>RPE65 is a 65-kD protein specific to the retinal pigment epithelium (RPE; refs 1,2), a monolayer epithelium in close contact with the photoreceptor outer segments. Although the precise role of RPE65 remains unclear, its participation in retinoid metabolism seems certain, and implies a functional relationship of RPE65 with photoreceptor physiology. Given that mutations in photoreceptor-specific genes cause retinal dystrophies, and assuming that a genetic defect in a photoreceptor-related function of RPE, as in the absence of RPE65, might cause an early degeneration of photoreceptors, mutations in the RPE65 gene were sought in patients with Leber's congenital amaurosis (LCA), a disorder characterized by blindness at birth. We sequenced the human RPE65 gene, which contains fourteen coding exons spanning 20 kb. Twelve unrelated LCA patients from whom informed consent had been obtained were screened.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>9326927</pmid><doi>10.1038/ng1097-139</doi><tpages>3</tpages></addata></record> |
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| subjects | Adolescent Adult Agriculture Animal Genetics and Genomics Base Sequence Biomedical and Life Sciences Biomedicine Blindness - congenital Blindness - genetics Cancer Research Carrier Proteins cis-trans-Isomerases correspondence DNA - genetics DNA Mutational Analysis DNA Primers - genetics Eye Proteins - genetics Female Gene Function Human Genetics Humans Male Mutation Optic Atrophies, Hereditary - genetics Pedigree Polymerase Chain Reaction Proteins |
| title | Mutations in RPE65 cause Leber's congenital amaurosis |
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