Structural Dimorphism in the Mitochondrial Targeting Sequence in the Human Manganese Superoxide Dismutase Gene: A Predictive Evidence for Conformational Change to Influence Mitochondrial Transport and a Study of Allelic Association in Parkinson's Disease
Mitochondrial targeting sequence (MTS) has a common property to form an amphiphilic helical structure which is essential for its effective transport of mitochonmdrial protein. Natural polymorphism in human MTS which affects its mitochondrial transport ability has not been reported. Furthermore, no s...
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| Veröffentlicht in: | Biochemical and biophysical research communications 1996-09, Vol.226 (2), p.561-565 |
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| creator | Shimoda-Matsubayashi, Satoe Matsumine, Hiroto Kobayashi, Tomonori Nakagawa-Hattori, Yuko Shimizu, Yumiko Mizuno, Yoshikuni |
| description | Mitochondrial targeting sequence (MTS) has a common property to form an amphiphilic helical structure which is essential for its effective transport of mitochonmdrial protein. Natural polymorphism in human MTS which affects its mitochondrial transport ability has not been reported. Furthermore, no structural polymorphism for manganese superoxide dismutase (MnSOD) gene has been studied in human population. We here identify diallelic polymorphism (Ala-9Val) in the MTS of human MnSOD in a Japanese population. Calculation of a helix forming potential predicted the typical amphiphilic helical structure in -9Ala allele and its disruption in -9Val allele. We here suggest that this mutation may reflect functional polymorphism of mitochondrial transport of human MnSOD. An association study using this polymorphism showed significant allelic deviation for -9Ala allele (12.1% vs. 19.3%) in Parkinson's disease. |
| doi_str_mv | 10.1006/bbrc.1996.1394 |
| format | Article |
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An association study using this polymorphism showed significant allelic deviation for -9Ala allele (12.1% vs. 19.3%) in Parkinson's disease.</description><identifier>ISSN: 0006-291X</identifier><identifier>EISSN: 1090-2104</identifier><identifier>DOI: 10.1006/bbrc.1996.1394</identifier><identifier>PMID: 8806673</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Aged ; Base Sequence ; Biological Transport ; DNA Primers ; Humans ; Middle Aged ; Mitochondria - metabolism ; Molecular Sequence Data ; Oxidative Stress ; Parkinson Disease - metabolism ; Polymorphism, Genetic ; Protein Sorting Signals - genetics ; Protein Structure, Secondary ; Superoxide Dismutase - chemistry ; Superoxide Dismutase - genetics ; Superoxide Dismutase - metabolism</subject><ispartof>Biochemical and biophysical research communications, 1996-09, Vol.226 (2), p.561-565</ispartof><rights>1996 Academic Press</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0006291X96913947$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8806673$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shimoda-Matsubayashi, Satoe</creatorcontrib><creatorcontrib>Matsumine, Hiroto</creatorcontrib><creatorcontrib>Kobayashi, Tomonori</creatorcontrib><creatorcontrib>Nakagawa-Hattori, Yuko</creatorcontrib><creatorcontrib>Shimizu, Yumiko</creatorcontrib><creatorcontrib>Mizuno, Yoshikuni</creatorcontrib><title>Structural Dimorphism in the Mitochondrial Targeting Sequence in the Human Manganese Superoxide Dismutase Gene: A Predictive Evidence for Conformational Change to Influence Mitochondrial Transport and a Study of Allelic Association in Parkinson's Disease</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>Mitochondrial targeting sequence (MTS) has a common property to form an amphiphilic helical structure which is essential for its effective transport of mitochonmdrial protein. 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An association study using this polymorphism showed significant allelic deviation for -9Ala allele (12.1% vs. 19.3%) in Parkinson's disease.</description><subject>Aged</subject><subject>Base Sequence</subject><subject>Biological Transport</subject><subject>DNA Primers</subject><subject>Humans</subject><subject>Middle Aged</subject><subject>Mitochondria - metabolism</subject><subject>Molecular Sequence Data</subject><subject>Oxidative Stress</subject><subject>Parkinson Disease - metabolism</subject><subject>Polymorphism, Genetic</subject><subject>Protein Sorting Signals - genetics</subject><subject>Protein Structure, Secondary</subject><subject>Superoxide Dismutase - chemistry</subject><subject>Superoxide Dismutase - genetics</subject><subject>Superoxide Dismutase - metabolism</subject><issn>0006-291X</issn><issn>1090-2104</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdUs9rFDEYDaLUbfXqTchJT7MmO78Sb8ta20KLha3gLWSSL7vRmWSaZBb7zxcz7noRAh_kvbzv8fIQekfJkhLSfOq6oJaU82ZJS169QAtKOClWlFQv0YJkRrHi9MdrdB7jT0IorRp-hs4YI03Tlgv0vE1hUmkKssdf7ODDuLdxwNbhtAd8Z5NXe-90sBl_kGEHybod3sLjBE7BP971NEiH76TbSQcR8HYaIfjfVkMWjcOUZL68Agef8RrfB9BWJXsAfHnIlFnH-IA33uUxyGS9y9s2-ywHOHl840x_XPefnyBdHH1IWDqNJd6mST9hb_C676G3Cq9j9Mr-FZyd3svwy7ro3cc424Js6g16ZWQf4e1pXqDvXy8fNtfF7berm836toBVXafClJzRWlet6UqtW2mauuNtB03Ha7ZS1BiqqWYVq-q6MqZldT5a66or80tuygv04ag7Bp-ji0kMNiro-5yXn6JoWbkq64Zl4vsTceoG0GIMdpDhSZw-LOPsiEN2e7AQRFR2zkbbACoJ7a2gRMzVEHM1xFwNMVej_AO5erHs</recordid><startdate>19960913</startdate><enddate>19960913</enddate><creator>Shimoda-Matsubayashi, Satoe</creator><creator>Matsumine, Hiroto</creator><creator>Kobayashi, Tomonori</creator><creator>Nakagawa-Hattori, Yuko</creator><creator>Shimizu, Yumiko</creator><creator>Mizuno, Yoshikuni</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>19960913</creationdate><title>Structural Dimorphism in the Mitochondrial Targeting Sequence in the Human Manganese Superoxide Dismutase Gene: A Predictive Evidence for Conformational Change to Influence Mitochondrial Transport and a Study of Allelic Association in Parkinson's Disease</title><author>Shimoda-Matsubayashi, Satoe ; 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Natural polymorphism in human MTS which affects its mitochondrial transport ability has not been reported. Furthermore, no structural polymorphism for manganese superoxide dismutase (MnSOD) gene has been studied in human population. We here identify diallelic polymorphism (Ala-9Val) in the MTS of human MnSOD in a Japanese population. Calculation of a helix forming potential predicted the typical amphiphilic helical structure in -9Ala allele and its disruption in -9Val allele. We here suggest that this mutation may reflect functional polymorphism of mitochondrial transport of human MnSOD. An association study using this polymorphism showed significant allelic deviation for -9Ala allele (12.1% vs. 19.3%) in Parkinson's disease.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>8806673</pmid><doi>10.1006/bbrc.1996.1394</doi><tpages>5</tpages></addata></record> |
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| ispartof | Biochemical and biophysical research communications, 1996-09, Vol.226 (2), p.561-565 |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Aged Base Sequence Biological Transport DNA Primers Humans Middle Aged Mitochondria - metabolism Molecular Sequence Data Oxidative Stress Parkinson Disease - metabolism Polymorphism, Genetic Protein Sorting Signals - genetics Protein Structure, Secondary Superoxide Dismutase - chemistry Superoxide Dismutase - genetics Superoxide Dismutase - metabolism |
| title | Structural Dimorphism in the Mitochondrial Targeting Sequence in the Human Manganese Superoxide Dismutase Gene: A Predictive Evidence for Conformational Change to Influence Mitochondrial Transport and a Study of Allelic Association in Parkinson's Disease |
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