Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population

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dc.contributor.authorPark, Han Sooko
dc.contributor.authorLee, Seung Bokko
dc.contributor.authorKim, Hyun Jinko
dc.contributor.authorJu, Young Seokko
dc.contributor.authorShin, Jong Yeonko
dc.contributor.authorHong, Dong Wanko
dc.contributor.authorvon Grotthuss, Marcinko
dc.contributor.authorLee, Dong Sungko
dc.contributor.authorPark, Chang Hoko
dc.contributor.authorKim, Jennifer Hayeonko
dc.contributor.authorKim, BRko
dc.contributor.authorYoo, Yun Jooko
dc.contributor.authorCho, Sung Ilko
dc.contributor.authorSung, Joohonko
dc.contributor.authorLee, Charlesko
dc.contributor.authorKim, Jong Ilko
dc.contributor.authorSeo, Jeong Sunko
dc.date.accessioned2016-05-10T08:21:24Z-
dc.date.available2016-05-10T08:21:24Z-
dc.date.created2015-12-09-
dc.date.created2015-12-09-
dc.date.created2015-12-09-
dc.date.issued2012-12-
dc.identifier.citationJOURNAL OF MEDICAL GENETICS, v.49, no.12, pp.747 - 752-
dc.identifier.issn0022-2593-
dc.identifier.urihttp://hdl.handle.net/10203/207069-
dc.description.abstractBackground Musical abilities such as recognising music and singing performance serve as means for communication and are instruments in sexual selection. Specific regions of the brain have been found to be activated by musical stimuli, but these have rarely been extended to the discovery of genes and molecules associated with musical ability. Methods A total of 1008 individuals from 73 families were enrolled and a pitch-production accuracy test was applied to determine musical ability. To identify genetic loci and variants that contribute to musical ability, we conducted family-based linkage and association analyses, and incorporated the results with data from exome sequencing and array comparative genomic hybridisation analyses. Results We found significant evidence of linkage at 4q23 with the nearest marker D4S2986 (LOD=3.1), whose supporting interval overlaps a previous study in Finnish families, and identified an intergenic single nucleotide polymorphism (SNP) (rs1251078, p=8.4x10(-17)) near UGT8, a gene highly expressed in the central nervous system and known to act in brain organisation. In addition, a non-synonymous SNP in UGT8 was revealed to be highly associated with musical ability (rs4148254, p=8.0x10(-17)), and a 6.2 kb copy number loss near UGT8 showed a plausible association with musical ability (p=2.9x10(-6)). Conclusions This study provides new insight into the genetics of musical ability, exemplifying a methodology to assign functional significance to synonymous and non-coding alleles by integrating multiple experimental methods.-
dc.languageEnglish-
dc.publisherB M J PUBLISHING GROUP-
dc.subjectFAMILY-BASED DESIGNS-
dc.subjectLINKAGE ANALYSIS-
dc.subjectCONGENITAL AMUSIA-
dc.subjectWIDE ASSOCIATION-
dc.subjectPITCH DISCRIMINATION-
dc.subjectALZHEIMERS-DISEASE-
dc.subjectGENERAL PEDIGREES-
dc.subjectABSOLUTE PITCH-
dc.subjectDISORDER-
dc.subjectGENETICS-
dc.titleComprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population-
dc.typeArticle-
dc.identifier.wosid000311716100004-
dc.identifier.scopusid2-s2.0-84872045396-
dc.type.rimsART-
dc.citation.volume49-
dc.citation.issue12-
dc.citation.beginningpage747-
dc.citation.endingpage752-
dc.citation.publicationnameJOURNAL OF MEDICAL GENETICS-
dc.identifier.doi10.1136/jmedgenet-2012-101209-
dc.contributor.localauthorJu, Young Seok-
dc.contributor.nonIdAuthorPark, Han Soo-
dc.contributor.nonIdAuthorLee, Seung Bok-
dc.contributor.nonIdAuthorKim, Hyun Jin-
dc.contributor.nonIdAuthorShin, Jong Yeon-
dc.contributor.nonIdAuthorHong, Dong Wan-
dc.contributor.nonIdAuthorvon Grotthuss, Marcin-
dc.contributor.nonIdAuthorLee, Dong Sung-
dc.contributor.nonIdAuthorPark, Chang Ho-
dc.contributor.nonIdAuthorKim, Jennifer Hayeon-
dc.contributor.nonIdAuthorKim, BR-
dc.contributor.nonIdAuthorYoo, Yun Joo-
dc.contributor.nonIdAuthorCho, Sung Il-
dc.contributor.nonIdAuthorSung, Joohon-
dc.contributor.nonIdAuthorLee, Charles-
dc.contributor.nonIdAuthorKim, Jong Il-
dc.contributor.nonIdAuthorSeo, Jeong Sun-
dc.type.journalArticleArticle-
dc.subject.keywordPlusFAMILY-BASED DESIGNS-
dc.subject.keywordPlusLINKAGE ANALYSIS-
dc.subject.keywordPlusCONGENITAL AMUSIA-
dc.subject.keywordPlusWIDE ASSOCIATION-
dc.subject.keywordPlusPITCH DISCRIMINATION-
dc.subject.keywordPlusALZHEIMERS-DISEASE-
dc.subject.keywordPlusGENERAL PEDIGREES-
dc.subject.keywordPlusABSOLUTE PITCH-
dc.subject.keywordPlusDISORDER-
dc.subject.keywordPlusGENETICS-
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