High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2
Identifieur interne : 000255 ( Pmc/Curation ); précédent : 000254; suivant : 000256High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2
Auteurs : Liyong Wang [États-Unis] ; Karen Nuytemans [États-Unis] ; Guney Bademci [États-Unis] ; Cherylyn Jauregui [États-Unis] ; Eden Martin [États-Unis] ; William Scott [États-Unis] ; Jeffery Vance [États-Unis] ; Stephan Zuchner [États-Unis]Source :
- Human mutation [ 1059-7794 ] ; 2013.
Abstract
A high density comparative genomic hybridization array was designed to evaluate CNVs in the genomic region of six familial PD genes in 181 PD cases and 67 controls. No CNV was found in
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DOI: 10.1002/humu.22344
PubMed: 23616242
PubMed Central: 4464794
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Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name><affiliation wicri:level="2"><nlm:aff id="A1">John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Bademci, Guney" sort="Bademci, Guney" uniqKey="Bademci G" first="Guney" last="Bademci">Guney Bademci</name><affiliation wicri:level="2"><nlm:aff id="A1">John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Jauregui, Cherylyn" sort="Jauregui, Cherylyn" uniqKey="Jauregui C" first="Cherylyn" last="Jauregui">Cherylyn Jauregui</name><affiliation wicri:level="2"><nlm:aff id="A1">John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden" last="Martin">Eden Martin</name><affiliation wicri:level="2"><nlm:aff id="A1">John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William" last="Scott">William Scott</name><affiliation wicri:level="2"><nlm:aff id="A1">John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery" last="Vance">Jeffery Vance</name><affiliation wicri:level="2"><nlm:aff id="A1">John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Zuchner">Stephan Zuchner</name><affiliation wicri:level="2"><nlm:aff id="A1">John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami</wicri:cityArea></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="e-ISSN">1098-1004</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">A high density comparative genomic hybridization array was designed to evaluate CNVs in the genomic region of six familial PD genes in 181 PD cases and 67 controls. No CNV was found in <italic>PARK7</italic>, <italic>ATP13A2</italic>, <italic>PINK1</italic>, and <italic>LRRK2</italic>. Intronic-only CNVs were found in <italic>SNCA</italic> and <italic>PARK2</italic> but were not associated with PD risk. A whole-gene duplication of <italic>SNCA</italic> was found in one case. The allele frequency of <italic>PARK2</italic> exonic CNV is significantly higher in cases than in controls (<italic>P</italic> = 0.02), higher in early-onset (AAO ≤ 40) than in late-onset cases (<italic>P</italic> = 0.001), and higher in familial than in sporadic cases (<italic>P</italic> = 0.005). Except for single exon 2 duplications, all <italic>PARK2</italic> exonic CNVs have different breakpoints, even when the same exon(s) were involved. In conclusion, except for SNCA and <italic>PARK2</italic>, CNVs are not a major contributing mechanism for the familial PD genes examined. The majority of <italic>PARK2</italic> exonic CNVs are not recurrent.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mutat.</journal-id><journal-title-group><journal-title>Human mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23616242</article-id><article-id pub-id-type="pmc">4464794</article-id><article-id pub-id-type="doi">10.1002/humu.22344</article-id><article-id pub-id-type="manuscript">NIHMS608651</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Liyong</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Nuytemans</surname><given-names>Karen</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bademci</surname><given-names>Guney</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Jauregui</surname><given-names>Cherylyn</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Martin</surname><given-names>Eden R.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>William K.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Vance</surname><given-names>Jeffery M.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Zuchner</surname><given-names>Stephan</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida</aff><aff id="A2"><label>2</label>Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida</aff><author-notes><corresp id="FN1"><label>*</label>Correspondence to: Liyong Wang, University of Miami, 1501 NW 10th Ave, BRB 609, Miami, FL 33136, USA. <email>lwang1@med.miami.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>26</day><month>5</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>28</day><month>5</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>8</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>13</day><month>6</month><year>2015</year></pub-date><volume>34</volume><issue>8</issue><fpage>1071</fpage><lpage>1074</lpage><pmc-comment>elocation-id from pubmed: 10.1002/humu.22344</pmc-comment>
<permissions><copyright-statement>© 2013 Wiley Periodicals, Inc.</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><p id="P1">A high density comparative genomic hybridization array was designed to evaluate CNVs in the genomic region of six familial PD genes in 181 PD cases and 67 controls. No CNV was found in <italic>PARK7</italic>, <italic>ATP13A2</italic>, <italic>PINK1</italic>, and <italic>LRRK2</italic>. Intronic-only CNVs were found in <italic>SNCA</italic> and <italic>PARK2</italic> but were not associated with PD risk. A whole-gene duplication of <italic>SNCA</italic> was found in one case. The allele frequency of <italic>PARK2</italic> exonic CNV is significantly higher in cases than in controls (<italic>P</italic> = 0.02), higher in early-onset (AAO ≤ 40) than in late-onset cases (<italic>P</italic> = 0.001), and higher in familial than in sporadic cases (<italic>P</italic> = 0.005). Except for single exon 2 duplications, all <italic>PARK2</italic> exonic CNVs have different breakpoints, even when the same exon(s) were involved. In conclusion, except for SNCA and <italic>PARK2</italic>, CNVs are not a major contributing mechanism for the familial PD genes examined. The majority of <italic>PARK2</italic> exonic CNVs are not recurrent.</p></abstract><kwd-group><kwd>CNV</kwd><kwd>CGH</kwd><kwd>Parkinson</kwd><kwd>PARK2</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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