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dc.contributor.authorPark, Hansoo
dc.contributor.authorLee, Seungbok
dc.contributor.authorKim, Hyun-Jin
dc.contributor.authorJu, Young Seok
dc.contributor.authorShin, Jong-Yeon
dc.contributor.authorHong, Dongwan
dc.contributor.authorvon Grotthuss, Marcin
dc.contributor.authorLee, Dong-Sung
dc.contributor.authorPark, Changho
dc.contributor.authorKim, Jennifer
dc.contributor.authorKim, Boram
dc.contributor.authorYoo, Yun Joo
dc.contributor.authorCho, Sung-Il
dc.contributor.authorSung, Joohon
dc.contributor.authorLee, Charles
dc.contributor.authorKim, Jong-Il
dc.contributor.authorSeo, Jeong-Sun
dc.date.accessioned2013-04-18T13:42:22Z
dc.date.issued2012
dc.identifier.citationPark, Hansoo, Seungbok Lee, Hyun-Jin Kim, Young Seok Ju, Jong-Yeon Shin, Dongwan Hong, Marcin von Grotthuss, et al. 2012. Comprehensive genomic analyses associate UGT8 variants with musical ability in a mongolian population. Journal of Medical Genetics 49(12): 747-752.en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:10578921
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) \((rs1251078, p=8.4×10^{−17})\) 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 \((rs4148254, p=8.0×10^{−17})\), and a 6.2 kb copy number loss near UGT8 showed a plausible association with musical ability \((p=2.9×10^{−6})\). 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.en_US
dc.language.isoen_USen_US
dc.publisherBMJ Publishing Groupen_US
dc.relation.isversionofdoi:10.1136/jmedgenet-2012-101209en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512346/pdf/en_US
dash.licenseLAA
dc.subjectComplex traitsen_US
dc.subjectGeneticsen_US
dc.subjectLinkageen_US
dc.titleComprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian populationen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalJournal of Medical Geneticsen_US
dash.depositing.authorvon Grotthuss, Marcin
dc.date.available2013-04-18T13:42:22Z
dc.identifier.doi10.1136/jmedgenet-2012-101209*
dash.authorsorderedfalse
dash.contributor.affiliatedKim, Jennifer
dash.contributor.affiliatedvon Grotthuss, Marcin
dash.contributor.affiliatedLee, Charles


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