Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.
Identifieur interne : 001173 ( Main/Exploration ); précédent : 001172; suivant : 001174Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.
Auteurs : Liisa Ukkola-Vuoti [Finlande] ; Chakravarthi Kanduri ; Jaana Oikkonen ; Gemma Buck ; Christine Blancher ; Pirre Raijas ; Kai Karma ; Harri L Hdesm Ki ; Irma J RvelSource :
- PloS one [ 1932-6203 ] ; 2013.
Descripteurs français
- KwdFr :
- Adolescent (MeSH), Adulte (MeSH), Adulte d'âge moyen (MeSH), Appariement de bases (génétique), Aptitude (MeSH), Bases de données génétiques (MeSH), Créativité (MeSH), Duplication de gène (génétique), Famille (MeSH), Femelle (MeSH), Génome humain (génétique), Humains (MeSH), Jeune adulte (MeSH), Musique (MeSH), Mâle (MeSH), Pedigree (MeSH), Phénotype (MeSH), Variations de nombre de copies de segment d'ADN (génétique).
- MESH :
English descriptors
- KwdEn :
- Adolescent (MeSH), Adult (MeSH), Aptitude (MeSH), Base Pairing (genetics), Creativity (MeSH), DNA Copy Number Variations (genetics), Databases, Genetic (MeSH), Family (MeSH), Female (MeSH), Gene Duplication (genetics), Genome, Human (genetics), Humans (MeSH), Male (MeSH), Middle Aged (MeSH), Music (MeSH), Pedigree (MeSH), Phenotype (MeSH), Young Adult (MeSH).
- MESH :
- genetics : Base Pairing, DNA Copy Number Variations, Gene Duplication, Genome, Human.
- Adolescent, Adult, Aptitude, Creativity, Databases, Genetic, Family, Female, Humans, Male, Middle Aged, Music, Pedigree, Phenotype, Young Adult.
Abstract
Music perception and practice represent complex cognitive functions of the human brain. Recently, evidence for the molecular genetic background of music related phenotypes has been obtained. In order to further elucidate the molecular background of musical phenotypes we analyzed genome wide copy number variations (CNVs) in five extended pedigrees and in 172 unrelated subjects characterized for musical aptitude and creative functions in music. Musical aptitude was defined by combination of the scores of three music tests (COMB scores): auditory structuring ability, Seashores test for pitch and for time. Data on creativity in music (herein composing, improvising and/or arranging music) was surveyed using a web-based questionnaire.Several CNVRs containing genes that affect neurodevelopment, learning and memory were detected. A deletion at 5q31.1 covering the protocadherin-α gene cluster (Pcdha 1-9) was found co-segregating with low music test scores (COMB) in both sample sets. Pcdha is involved in neural migration, differentiation and synaptogenesis. Creativity in music was found to co-segregate with a duplication covering glucose mutarotase gene (GALM) at 2p22. GALM has influence on serotonin release and membrane trafficking of the human serotonin transporter. Interestingly, genes related to serotonergic systems have been shown to associate not only with psychiatric disorders but also with creativity and music perception. Both, Pcdha and GALM, are related to the serotonergic systems influencing cognitive and motor functions, important for music perception and practice. Finally, a 1.3 Mb duplication was identified in a subject with low COMB scores in the region previously linked with absolute pitch (AP) at 8q24. No differences in the CNV burden was detected among the high/low music test scores or creative/non-creative groups. In summary, CNVs and genes found in this study are related to cognitive functions. Our result suggests new candidate genes for music perception related traits and supports the previous results from AP study.
DOI: 10.1371/journal.pone.0056356
PubMed: 23460800
PubMed Central: PMC3584088
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
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Recently, evidence for the molecular genetic background of music related phenotypes has been obtained. In order to further elucidate the molecular background of musical phenotypes we analyzed genome wide copy number variations (CNVs) in five extended pedigrees and in 172 unrelated subjects characterized for musical aptitude and creative functions in music. Musical aptitude was defined by combination of the scores of three music tests (COMB scores): auditory structuring ability, Seashores test for pitch and for time. Data on creativity in music (herein composing, improvising and/or arranging music) was surveyed using a web-based questionnaire.Several CNVRs containing genes that affect neurodevelopment, learning and memory were detected. A deletion at 5q31.1 covering the protocadherin-α gene cluster (Pcdha 1-9) was found co-segregating with low music test scores (COMB) in both sample sets. Pcdha is involved in neural migration, differentiation and synaptogenesis. Creativity in music was found to co-segregate with a duplication covering glucose mutarotase gene (GALM) at 2p22. GALM has influence on serotonin release and membrane trafficking of the human serotonin transporter. Interestingly, genes related to serotonergic systems have been shown to associate not only with psychiatric disorders but also with creativity and music perception. Both, Pcdha and GALM, are related to the serotonergic systems influencing cognitive and motor functions, important for music perception and practice. Finally, a 1.3 Mb duplication was identified in a subject with low COMB scores in the region previously linked with absolute pitch (AP) at 8q24. No differences in the CNV burden was detected among the high/low music test scores or creative/non-creative groups. In summary, CNVs and genes found in this study are related to cognitive functions. Our result suggests new candidate genes for music perception related traits and supports the previous results from AP study.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23460800</PMID><DateCompleted><Year>2013</Year><Month>09</Month><Day>03</Day></DateCompleted><DateRevised><Year>2018</Year><Month>11</Month><Day>13</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1932-6203</ISSN><JournalIssue CitedMedium="Internet"><Volume>8</Volume><Issue>2</Issue><PubDate><Year>2013</Year></PubDate></JournalIssue><Title>PloS one</Title><ISOAbbreviation>PLoS One</ISOAbbreviation></Journal><ArticleTitle>Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.</ArticleTitle><Pagination><MedlinePgn>e56356</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1371/journal.pone.0056356</ELocationID><Abstract><AbstractText>Music perception and practice represent complex cognitive functions of the human brain. Recently, evidence for the molecular genetic background of music related phenotypes has been obtained. In order to further elucidate the molecular background of musical phenotypes we analyzed genome wide copy number variations (CNVs) in five extended pedigrees and in 172 unrelated subjects characterized for musical aptitude and creative functions in music. Musical aptitude was defined by combination of the scores of three music tests (COMB scores): auditory structuring ability, Seashores test for pitch and for time. Data on creativity in music (herein composing, improvising and/or arranging music) was surveyed using a web-based questionnaire.Several CNVRs containing genes that affect neurodevelopment, learning and memory were detected. A deletion at 5q31.1 covering the protocadherin-α gene cluster (Pcdha 1-9) was found co-segregating with low music test scores (COMB) in both sample sets. Pcdha is involved in neural migration, differentiation and synaptogenesis. Creativity in music was found to co-segregate with a duplication covering glucose mutarotase gene (GALM) at 2p22. GALM has influence on serotonin release and membrane trafficking of the human serotonin transporter. Interestingly, genes related to serotonergic systems have been shown to associate not only with psychiatric disorders but also with creativity and music perception. Both, Pcdha and GALM, are related to the serotonergic systems influencing cognitive and motor functions, important for music perception and practice. Finally, a 1.3 Mb duplication was identified in a subject with low COMB scores in the region previously linked with absolute pitch (AP) at 8q24. No differences in the CNV burden was detected among the high/low music test scores or creative/non-creative groups. In summary, CNVs and genes found in this study are related to cognitive functions. Our result suggests new candidate genes for music perception related traits and supports the previous results from AP study.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ukkola-Vuoti</LastName><ForeName>Liisa</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of Helsinki, University of Helsinki, Finland. liisa.ukkola@helsinki.fi</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kanduri</LastName><ForeName>Chakravarthi</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Oikkonen</LastName><ForeName>Jaana</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Buck</LastName><ForeName>Gemma</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Blancher</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Raijas</LastName><ForeName>Pirre</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Karma</LastName><ForeName>Kai</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Lähdesmäki</LastName><ForeName>Harri</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Järvelä</LastName><ForeName>Irma</ForeName><Initials>I</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>02</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>PLoS One</MedlineTA><NlmUniqueID>101285081</NlmUniqueID><ISSNLinking>1932-6203</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001076" MajorTopicYN="Y">Aptitude</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020029" MajorTopicYN="N">Base Pairing</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003405" MajorTopicYN="Y">Creativity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056915" MajorTopicYN="N">DNA Copy Number Variations</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D030541" MajorTopicYN="N">Databases, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005190" MajorTopicYN="N">Family</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020440" MajorTopicYN="N">Gene Duplication</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015894" MajorTopicYN="N">Genome, Human</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009146" MajorTopicYN="Y">Music</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" 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Kai" sort="Karma, Kai" uniqKey="Karma K" first="Kai" last="Karma">Kai Karma</name><name sortKey="L Hdesm Ki, Harri" sort="L Hdesm Ki, Harri" uniqKey="L Hdesm Ki H" first="Harri" last="L Hdesm Ki">Harri L Hdesm Ki</name><name sortKey="Oikkonen, Jaana" sort="Oikkonen, Jaana" uniqKey="Oikkonen J" first="Jaana" last="Oikkonen">Jaana Oikkonen</name><name sortKey="Raijas, Pirre" sort="Raijas, Pirre" uniqKey="Raijas P" first="Pirre" last="Raijas">Pirre Raijas</name></noCountry><country name="Finlande"><region name="Uusimaa"><name sortKey="Ukkola Vuoti, Liisa" sort="Ukkola Vuoti, Liisa" uniqKey="Ukkola Vuoti L" first="Liisa" last="Ukkola-Vuoti">Liisa Ukkola-Vuoti</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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