Brief Genetics Report: Structure and organization of the Human Uncoupling Protein 2 Gene and Identification Of a Common Biallelic Variant in Causcasian And African-American Subjects

摘要

Geonomic organization and structure of the gene encoding the human uncoupling protein 2 (UCP2) was determined and used to study sequence vari- ations. UCP2 maps on chromosome 11q13 and is a novel member of a gene family comprising three genes (UCP1, UCP2, UCP3) that encode uncouplers of mitochondr- ial respiration. UCP2 and UCP3 are new candidate genes for obesity and type 2 diabetes (1-3). Human obesity is highly genetically determined as illustrated by heritability estimates ranging from 50 to 85/100 in twin studies (4).