TY - JOUR T1 - Comprehensive genomic analyses associate <em>UGT8</em> variants with musical ability in a Mongolian population JF - Journal of Medical Genetics JO - J Med Genet SP - 747 LP - 752 DO - 10.1136/jmedgenet-2012-101209 VL - 49 IS - 12 AU - Hansoo Park AU - Seungbok Lee AU - Hyun-Jin Kim AU - Young Seok Ju AU - Jong-Yeon Shin AU - Dongwan Hong AU - Marcin von Grotthuss AU - Dong-Sung Lee AU - Changho Park AU - Jennifer Hayeon Kim AU - Boram Kim AU - Yun Joo Yoo AU - Sung-Il Cho AU - Joohon Sung AU - Charles Lee AU - Jong-Il Kim AU - Jeong-Sun Seo Y1 - 2012/12/01 UR - http://jmg.bmj.com/content/49/12/747.abstract N2 - Background 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. ER -