Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis
TUB is the first identified member of the TULP family of four proteins with unknown function. A spontaneous mutation in murine tub causes retinal degeneration, obesity, and deafness. Mutations in another member of the TULP family, TULP1, are a cause of autosomal recessive retinitis pigmentosa (RP)....
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Veröffentlicht in: | Experimental eye research 2006-09, Vol.83 (3), p.569-573 |
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description | TUB is the first identified member of the TULP family of four proteins with unknown function. A spontaneous mutation in murine
tub causes retinal degeneration, obesity, and deafness. Mutations in another member of the TULP family,
TULP1, are a cause of autosomal recessive retinitis pigmentosa (RP). These findings prompted us to investigate
TUB as a candidate gene for RP and Leber congenital amaurosis (LCA). A mutation screen of the entire coding region of the TUB gene in 159 unrelated patients with autosomal recessive RP, 114 unrelated patients with simplex RP, and 21 unrelated patients with LCA uncovered 18 sequence variations. Of these, seven were missense mutations, six were isocoding changes, and five were intronic polymorphisms. All seven missense mutations were identified as heterozygous changes and no defect could be found in the other allele. None of the isocoding variants or intronic polymorphisms are predicted to create or destroy splice donor or acceptor sites based on splice-site prediction software. Although variant alleles of the
TUB gene were found, none could be definitively associated with a specific retinal disease. |
doi_str_mv | 10.1016/j.exer.2006.02.003 |
format | Article |
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tub causes retinal degeneration, obesity, and deafness. Mutations in another member of the TULP family,
TULP1, are a cause of autosomal recessive retinitis pigmentosa (RP). These findings prompted us to investigate
TUB as a candidate gene for RP and Leber congenital amaurosis (LCA). A mutation screen of the entire coding region of the TUB gene in 159 unrelated patients with autosomal recessive RP, 114 unrelated patients with simplex RP, and 21 unrelated patients with LCA uncovered 18 sequence variations. Of these, seven were missense mutations, six were isocoding changes, and five were intronic polymorphisms. All seven missense mutations were identified as heterozygous changes and no defect could be found in the other allele. None of the isocoding variants or intronic polymorphisms are predicted to create or destroy splice donor or acceptor sites based on splice-site prediction software. Although variant alleles of the
TUB gene were found, none could be definitively associated with a specific retinal disease.</description><identifier>ISSN: 0014-4835</identifier><identifier>EISSN: 1096-0007</identifier><identifier>DOI: 10.1016/j.exer.2006.02.003</identifier><identifier>PMID: 16643894</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Amino Acid Sequence ; Case-Control Studies ; Consanguinity ; DNA Mutational Analysis ; DNA Primers ; Humans ; Leber congenital amarousis ; Molecular Sequence Data ; mutation ; Mutation, Missense ; Optic Atrophy, Hereditary, Leber - genetics ; photoreceptor ; Polymorphism, Single Nucleotide ; Proteins - genetics ; retinitis pigmentosa ; Retinitis Pigmentosa - genetics ; tub ; tulp</subject><ispartof>Experimental eye research, 2006-09, Vol.83 (3), p.569-573</ispartof><rights>2006 Elsevier Ltd</rights><rights>2006 Elsevier Ltd. All rights reserved. 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c453t-e5d7a002969e9f8c34ecc36aa8b982245a1147e11ef73444d9c07ddd9853394a3</citedby><cites>FETCH-LOGICAL-c453t-e5d7a002969e9f8c34ecc36aa8b982245a1147e11ef73444d9c07ddd9853394a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.exer.2006.02.003$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,780,784,885,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16643894$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xi, Quansheng</creatorcontrib><creatorcontrib>Pauer, Gayle J.T.</creatorcontrib><creatorcontrib>Traboulsi, Elias I.</creatorcontrib><creatorcontrib>Hagstrom, Stephanie A.</creatorcontrib><title>Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis</title><title>Experimental eye research</title><addtitle>Exp Eye Res</addtitle><description>TUB is the first identified member of the TULP family of four proteins with unknown function. A spontaneous mutation in murine
tub causes retinal degeneration, obesity, and deafness. Mutations in another member of the TULP family,
TULP1, are a cause of autosomal recessive retinitis pigmentosa (RP). These findings prompted us to investigate
TUB as a candidate gene for RP and Leber congenital amaurosis (LCA). A mutation screen of the entire coding region of the TUB gene in 159 unrelated patients with autosomal recessive RP, 114 unrelated patients with simplex RP, and 21 unrelated patients with LCA uncovered 18 sequence variations. Of these, seven were missense mutations, six were isocoding changes, and five were intronic polymorphisms. All seven missense mutations were identified as heterozygous changes and no defect could be found in the other allele. None of the isocoding variants or intronic polymorphisms are predicted to create or destroy splice donor or acceptor sites based on splice-site prediction software. Although variant alleles of the
TUB gene were found, none could be definitively associated with a specific retinal disease.</description><subject>Amino Acid Sequence</subject><subject>Case-Control Studies</subject><subject>Consanguinity</subject><subject>DNA Mutational Analysis</subject><subject>DNA Primers</subject><subject>Humans</subject><subject>Leber congenital amarousis</subject><subject>Molecular Sequence Data</subject><subject>mutation</subject><subject>Mutation, Missense</subject><subject>Optic Atrophy, Hereditary, Leber - genetics</subject><subject>photoreceptor</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins - genetics</subject><subject>retinitis pigmentosa</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>tub</subject><subject>tulp</subject><issn>0014-4835</issn><issn>1096-0007</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUuPFCEUhYlx4rSjf8CFYeWuyktBPUiMiU58TNITNzNrQsOtbjpV0AI1Ov9eOt3xsXFFcvnO4XIOIa8Y1AxY93Zf40-MdQPQ1dDUAPwJWTGQXQUA_VOyAmCiEgNvL8nzlPZlykUvnpFL1nWCD1KsiL1dss4ueJpMRPQ0jDTvkN7df6Rb9Eidp4cCoM-J_nB5RyNm5112iR7cdi7zkDTV3tI1bjBSE3zRuawnqme9xJBcekEuRj0lfHk-r8j9509311-r9bcvN9cf1pURLc8VtrbXAI3sJMpxMFygMbzTetjIoWlEqxkTPTKGY8-FEFYa6K21cmg5l0LzK_L-5HtYNjNaU5aLelKH6GYdH1XQTv17491ObcOD4tBwOchi8OZsEMP3BVNWs0sGp0l7DEtS3QBSdEIUsDmBpnwwRRx_P8JAHctRe3UsRx3LUdCoEn0Rvf57vT-ScxsFeHcCsIT04Io8mZK8QesimqxscP_z_wURq6LF</recordid><startdate>20060901</startdate><enddate>20060901</enddate><creator>Xi, Quansheng</creator><creator>Pauer, Gayle J.T.</creator><creator>Traboulsi, Elias I.</creator><creator>Hagstrom, Stephanie A.</creator><general>Elsevier Ltd</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>7X8</scope><scope>5PM</scope></search><sort><creationdate>20060901</creationdate><title>Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis</title><author>Xi, Quansheng ; Pauer, Gayle J.T. ; Traboulsi, Elias I. ; Hagstrom, Stephanie A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c453t-e5d7a002969e9f8c34ecc36aa8b982245a1147e11ef73444d9c07ddd9853394a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Amino Acid Sequence</topic><topic>Case-Control Studies</topic><topic>Consanguinity</topic><topic>DNA Mutational Analysis</topic><topic>DNA Primers</topic><topic>Humans</topic><topic>Leber congenital amarousis</topic><topic>Molecular Sequence Data</topic><topic>mutation</topic><topic>Mutation, Missense</topic><topic>Optic Atrophy, Hereditary, Leber - genetics</topic><topic>photoreceptor</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteins - genetics</topic><topic>retinitis pigmentosa</topic><topic>Retinitis Pigmentosa - genetics</topic><topic>tub</topic><topic>tulp</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xi, Quansheng</creatorcontrib><creatorcontrib>Pauer, Gayle J.T.</creatorcontrib><creatorcontrib>Traboulsi, Elias I.</creatorcontrib><creatorcontrib>Hagstrom, Stephanie A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Experimental eye research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Xi, Quansheng</au><au>Pauer, Gayle J.T.</au><au>Traboulsi, Elias I.</au><au>Hagstrom, Stephanie A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis</atitle><jtitle>Experimental eye research</jtitle><addtitle>Exp Eye Res</addtitle><date>2006-09-01</date><risdate>2006</risdate><volume>83</volume><issue>3</issue><spage>569</spage><epage>573</epage><pages>569-573</pages><issn>0014-4835</issn><eissn>1096-0007</eissn><abstract>TUB is the first identified member of the TULP family of four proteins with unknown function. A spontaneous mutation in murine
tub causes retinal degeneration, obesity, and deafness. Mutations in another member of the TULP family,
TULP1, are a cause of autosomal recessive retinitis pigmentosa (RP). These findings prompted us to investigate
TUB as a candidate gene for RP and Leber congenital amaurosis (LCA). A mutation screen of the entire coding region of the TUB gene in 159 unrelated patients with autosomal recessive RP, 114 unrelated patients with simplex RP, and 21 unrelated patients with LCA uncovered 18 sequence variations. Of these, seven were missense mutations, six were isocoding changes, and five were intronic polymorphisms. All seven missense mutations were identified as heterozygous changes and no defect could be found in the other allele. None of the isocoding variants or intronic polymorphisms are predicted to create or destroy splice donor or acceptor sites based on splice-site prediction software. Although variant alleles of the
TUB gene were found, none could be definitively associated with a specific retinal disease.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>16643894</pmid><doi>10.1016/j.exer.2006.02.003</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Amino Acid Sequence Case-Control Studies Consanguinity DNA Mutational Analysis DNA Primers Humans Leber congenital amarousis Molecular Sequence Data mutation Mutation, Missense Optic Atrophy, Hereditary, Leber - genetics photoreceptor Polymorphism, Single Nucleotide Proteins - genetics retinitis pigmentosa Retinitis Pigmentosa - genetics tub tulp |
title | Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis |
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