A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa
ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known, but they have been suggested to play important r...
Gespeichert in:
| Veröffentlicht in: | Genomics 1995-05, Vol.27 (2), p.384-386 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 386 |
|---|---|
| container_issue | 2 |
| container_start_page | 384 |
| container_title | Genomics |
| container_volume | 27 |
| creator | Sakuma, Hitoshi Inana, George Murakami, Akira Yajima, Toshihiro Weleber, Richard G. Murphey, William H. Gass, J.Donald M. Hotta, Yoshihiro Hayakawa, Mutsuko Fujiki, Keiko Gao, Yong Qing Danciger, Michael Farber, Debora Cideciyan, Artur V. Jacobson, Samuel G. |
| description | ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known, but they have been suggested to play important roles in the function and/or structure of the rod photoreceptor outer segment disks. A recent report implicated ROM1 in disease by suggesting that RP can be caused by a heterozygous null mutation in ROM1 but only in combination with another heterozygous mutation in peripherin/RDS. Screening of the ROM1 gene using polymerase chain reaction amplification, denaturing gradient gel electrophoresis, and direct DNA sequencing identified the same heterozygous putative null mutation in a family with RP. |
| doi_str_mv | 10.1006/geno.1995.1066 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_osti_</sourceid><recordid>TN_cdi_proquest_miscellaneous_77629724</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S088875438571066X</els_id><sourcerecordid>77629724</sourcerecordid><originalsourceid>FETCH-LOGICAL-c463t-8f5caea05ed7e68679f39b0c269e734cd56ba20efc09cd0da842c0199867328a3</originalsourceid><addsrcrecordid>eNp1kcFv2yAUxtG0qsu6XXebxKRqN6dgDMbHqmvXSe1aZdsZEfycMNmQAW6b_fXDSVSph11Aj_d7n3jfh9AHSuaUEHG2AufntGl4LoV4hWaUyKaQohKv0YxIKYuaV-wNehvjb0JIw2R5jI5rziWhYoaezvE1JAj-73blx4jvx6STfQD8fex7fLurvMPW4cXdLcWPNq39mLB-0bqHYDfrfLizxZcf04vGV3qw_XY3gBeQrLPJZnm7GsAlH_U7dNTpPsL7w32Cfl1d_ry4Lm7uvn67OL8pTCVYKmTHjQZNOLQ1CCnqpmPNkphSNFCzyrRcLHVJoDOkMS1ptaxKQ7IfGWWl1OwEfdrr-pisisYmMGvjnQOTFKWV5HVmPu-ZTfB_RohJDTYa6HvtIJui6lqUTV1WGZzvQRN8jAE6tQl20GGrKFFTHGqKQ01xqCmOPPDxoDwuB2if8YP_uX966OtodN8F7YyNzxjjkpU7GbnHIDv1YCFMi4Az0Now7dF6-78f_AP_XaaO</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>77629724</pqid></control><display><type>article</type><title>A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><creator>Sakuma, Hitoshi ; Inana, George ; Murakami, Akira ; Yajima, Toshihiro ; Weleber, Richard G. ; Murphey, William H. ; Gass, J.Donald M. ; Hotta, Yoshihiro ; Hayakawa, Mutsuko ; Fujiki, Keiko ; Gao, Yong Qing ; Danciger, Michael ; Farber, Debora ; Cideciyan, Artur V. ; Jacobson, Samuel G.</creator><creatorcontrib>Sakuma, Hitoshi ; Inana, George ; Murakami, Akira ; Yajima, Toshihiro ; Weleber, Richard G. ; Murphey, William H. ; Gass, J.Donald M. ; Hotta, Yoshihiro ; Hayakawa, Mutsuko ; Fujiki, Keiko ; Gao, Yong Qing ; Danciger, Michael ; Farber, Debora ; Cideciyan, Artur V. ; Jacobson, Samuel G.</creatorcontrib><description>ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known, but they have been suggested to play important roles in the function and/or structure of the rod photoreceptor outer segment disks. A recent report implicated ROM1 in disease by suggesting that RP can be caused by a heterozygous null mutation in ROM1 but only in combination with another heterozygous mutation in peripherin/RDS. Screening of the ROM1 gene using polymerase chain reaction amplification, denaturing gradient gel electrophoresis, and direct DNA sequencing identified the same heterozygous putative null mutation in a family with RP.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.1995.1066</identifier><identifier>PMID: 7558016</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Biological and medical sciences ; BIOLOGY AND MEDICINE, BASIC STUDIES ; DETECTION ; Eye Proteins - genetics ; EYES ; Female ; GENE MUTATIONS ; HEREDITARY DISEASES ; Heterozygote ; Humans ; Intermediate Filament Proteins - genetics ; Male ; Medical sciences ; Membrane Glycoproteins ; Membrane Proteins - genetics ; Mutation ; Nerve Tissue Proteins ; Ophthalmology ; Pedigree ; Peripherins ; Retinal Degeneration - genetics ; Retinitis Pigmentosa - genetics ; Retinopathies ; Tetraspanins</subject><ispartof>Genomics, 1995-05, Vol.27 (2), p.384-386</ispartof><rights>1995 Academic Press</rights><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c463t-8f5caea05ed7e68679f39b0c269e734cd56ba20efc09cd0da842c0199867328a3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1006/geno.1995.1066$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,885,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3583266$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7558016$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/114857$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Sakuma, Hitoshi</creatorcontrib><creatorcontrib>Inana, George</creatorcontrib><creatorcontrib>Murakami, Akira</creatorcontrib><creatorcontrib>Yajima, Toshihiro</creatorcontrib><creatorcontrib>Weleber, Richard G.</creatorcontrib><creatorcontrib>Murphey, William H.</creatorcontrib><creatorcontrib>Gass, J.Donald M.</creatorcontrib><creatorcontrib>Hotta, Yoshihiro</creatorcontrib><creatorcontrib>Hayakawa, Mutsuko</creatorcontrib><creatorcontrib>Fujiki, Keiko</creatorcontrib><creatorcontrib>Gao, Yong Qing</creatorcontrib><creatorcontrib>Danciger, Michael</creatorcontrib><creatorcontrib>Farber, Debora</creatorcontrib><creatorcontrib>Cideciyan, Artur V.</creatorcontrib><creatorcontrib>Jacobson, Samuel G.</creatorcontrib><title>A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa</title><title>Genomics</title><addtitle>Genomics</addtitle><description>ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known, but they have been suggested to play important roles in the function and/or structure of the rod photoreceptor outer segment disks. A recent report implicated ROM1 in disease by suggesting that RP can be caused by a heterozygous null mutation in ROM1 but only in combination with another heterozygous mutation in peripherin/RDS. Screening of the ROM1 gene using polymerase chain reaction amplification, denaturing gradient gel electrophoresis, and direct DNA sequencing identified the same heterozygous putative null mutation in a family with RP.</description><subject>Biological and medical sciences</subject><subject>BIOLOGY AND MEDICINE, BASIC STUDIES</subject><subject>DETECTION</subject><subject>Eye Proteins - genetics</subject><subject>EYES</subject><subject>Female</subject><subject>GENE MUTATIONS</subject><subject>HEREDITARY DISEASES</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Intermediate Filament Proteins - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Glycoproteins</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation</subject><subject>Nerve Tissue Proteins</subject><subject>Ophthalmology</subject><subject>Pedigree</subject><subject>Peripherins</subject><subject>Retinal Degeneration - genetics</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>Retinopathies</subject><subject>Tetraspanins</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kcFv2yAUxtG0qsu6XXebxKRqN6dgDMbHqmvXSe1aZdsZEfycMNmQAW6b_fXDSVSph11Aj_d7n3jfh9AHSuaUEHG2AufntGl4LoV4hWaUyKaQohKv0YxIKYuaV-wNehvjb0JIw2R5jI5rziWhYoaezvE1JAj-73blx4jvx6STfQD8fex7fLurvMPW4cXdLcWPNq39mLB-0bqHYDfrfLizxZcf04vGV3qw_XY3gBeQrLPJZnm7GsAlH_U7dNTpPsL7w32Cfl1d_ry4Lm7uvn67OL8pTCVYKmTHjQZNOLQ1CCnqpmPNkphSNFCzyrRcLHVJoDOkMS1ptaxKQ7IfGWWl1OwEfdrr-pisisYmMGvjnQOTFKWV5HVmPu-ZTfB_RohJDTYa6HvtIJui6lqUTV1WGZzvQRN8jAE6tQl20GGrKFFTHGqKQ01xqCmOPPDxoDwuB2if8YP_uX966OtodN8F7YyNzxjjkpU7GbnHIDv1YCFMi4Az0Now7dF6-78f_AP_XaaO</recordid><startdate>19950520</startdate><enddate>19950520</enddate><creator>Sakuma, Hitoshi</creator><creator>Inana, George</creator><creator>Murakami, Akira</creator><creator>Yajima, Toshihiro</creator><creator>Weleber, Richard G.</creator><creator>Murphey, William H.</creator><creator>Gass, J.Donald M.</creator><creator>Hotta, Yoshihiro</creator><creator>Hayakawa, Mutsuko</creator><creator>Fujiki, Keiko</creator><creator>Gao, Yong Qing</creator><creator>Danciger, Michael</creator><creator>Farber, Debora</creator><creator>Cideciyan, Artur V.</creator><creator>Jacobson, Samuel G.</creator><general>Elsevier Inc</general><general>Elsevier</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>7X8</scope><scope>OTOTI</scope></search><sort><creationdate>19950520</creationdate><title>A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa</title><author>Sakuma, Hitoshi ; Inana, George ; Murakami, Akira ; Yajima, Toshihiro ; Weleber, Richard G. ; Murphey, William H. ; Gass, J.Donald M. ; Hotta, Yoshihiro ; Hayakawa, Mutsuko ; Fujiki, Keiko ; Gao, Yong Qing ; Danciger, Michael ; Farber, Debora ; Cideciyan, Artur V. ; Jacobson, Samuel G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c463t-8f5caea05ed7e68679f39b0c269e734cd56ba20efc09cd0da842c0199867328a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Biological and medical sciences</topic><topic>BIOLOGY AND MEDICINE, BASIC STUDIES</topic><topic>DETECTION</topic><topic>Eye Proteins - genetics</topic><topic>EYES</topic><topic>Female</topic><topic>GENE MUTATIONS</topic><topic>HEREDITARY DISEASES</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Intermediate Filament Proteins - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Glycoproteins</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation</topic><topic>Nerve Tissue Proteins</topic><topic>Ophthalmology</topic><topic>Pedigree</topic><topic>Peripherins</topic><topic>Retinal Degeneration - genetics</topic><topic>Retinitis Pigmentosa - genetics</topic><topic>Retinopathies</topic><topic>Tetraspanins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sakuma, Hitoshi</creatorcontrib><creatorcontrib>Inana, George</creatorcontrib><creatorcontrib>Murakami, Akira</creatorcontrib><creatorcontrib>Yajima, Toshihiro</creatorcontrib><creatorcontrib>Weleber, Richard G.</creatorcontrib><creatorcontrib>Murphey, William H.</creatorcontrib><creatorcontrib>Gass, J.Donald M.</creatorcontrib><creatorcontrib>Hotta, Yoshihiro</creatorcontrib><creatorcontrib>Hayakawa, Mutsuko</creatorcontrib><creatorcontrib>Fujiki, Keiko</creatorcontrib><creatorcontrib>Gao, Yong Qing</creatorcontrib><creatorcontrib>Danciger, Michael</creatorcontrib><creatorcontrib>Farber, Debora</creatorcontrib><creatorcontrib>Cideciyan, Artur V.</creatorcontrib><creatorcontrib>Jacobson, Samuel G.</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>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><jtitle>Genomics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sakuma, Hitoshi</au><au>Inana, George</au><au>Murakami, Akira</au><au>Yajima, Toshihiro</au><au>Weleber, Richard G.</au><au>Murphey, William H.</au><au>Gass, J.Donald M.</au><au>Hotta, Yoshihiro</au><au>Hayakawa, Mutsuko</au><au>Fujiki, Keiko</au><au>Gao, Yong Qing</au><au>Danciger, Michael</au><au>Farber, Debora</au><au>Cideciyan, Artur V.</au><au>Jacobson, Samuel G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa</atitle><jtitle>Genomics</jtitle><addtitle>Genomics</addtitle><date>1995-05-20</date><risdate>1995</risdate><volume>27</volume><issue>2</issue><spage>384</spage><epage>386</epage><pages>384-386</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known, but they have been suggested to play important roles in the function and/or structure of the rod photoreceptor outer segment disks. A recent report implicated ROM1 in disease by suggesting that RP can be caused by a heterozygous null mutation in ROM1 but only in combination with another heterozygous mutation in peripherin/RDS. Screening of the ROM1 gene using polymerase chain reaction amplification, denaturing gradient gel electrophoresis, and direct DNA sequencing identified the same heterozygous putative null mutation in a family with RP.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>7558016</pmid><doi>10.1006/geno.1995.1066</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0888-7543 |
| ispartof | Genomics, 1995-05, Vol.27 (2), p.384-386 |
| issn | 0888-7543 1089-8646 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_77629724 |
| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES DETECTION Eye Proteins - genetics EYES Female GENE MUTATIONS HEREDITARY DISEASES Heterozygote Humans Intermediate Filament Proteins - genetics Male Medical sciences Membrane Glycoproteins Membrane Proteins - genetics Mutation Nerve Tissue Proteins Ophthalmology Pedigree Peripherins Retinal Degeneration - genetics Retinitis Pigmentosa - genetics Retinopathies Tetraspanins |
| title | A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-20T01%3A02%3A08IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_osti_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20Heterozygous%20Putative%20Null%20Mutation%20in%20ROM1%20without%20a%20Mutation%20in%20Peripherin/RDS%20in%20a%20Family%20with%20Retinitis%20Pigmentosa&rft.jtitle=Genomics&rft.au=Sakuma,%20Hitoshi&rft.date=1995-05-20&rft.volume=27&rft.issue=2&rft.spage=384&rft.epage=386&rft.pages=384-386&rft.issn=0888-7543&rft.eissn=1089-8646&rft_id=info:doi/10.1006/geno.1995.1066&rft_dat=%3Cproquest_osti_%3E77629724%3C/proquest_osti_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=77629724&rft_id=info:pmid/7558016&rft_els_id=S088875438571066X&rfr_iscdi=true |