Ontology highlight
ABSTRACT:
SUBMITTER: Xue Y
PROVIDER: S-EPMC2556428 | biostudies-literature | 2008 Sep
REPOSITORIES: biostudies-literature
Xue Yali Y Sun Donglin D Daly Allan A Yang Fengtang F Zhou Xue X Zhao Mengyao M Huang Ni N Zerjal Tatiana T Lee Charles C Carter Nigel P NP Hurles Matthew E ME Tyler-Smith Chris C
American journal of human genetics 20080828 3
The human UGT2B17 gene varies in copy number from zero to two per individual and also differs in mean number between populations from Africa, Europe, and East Asia. We show that such a high degree of geographical variation is unusual and investigate its evolutionary history. This required first reinterpreting the reference sequence in this region of the genome, which is misassembled from the two different alleles separated by an artifactual gap. A corrected assembly identifies the polymorphism a ...[more]