title: A functional role for structural variation in metabolism.
abstract: A contribution of structural genomic variation to the heritability of complex metabolic phenotypes was illuminated by the recent characterization of chromosome-engineered mouse models for genomic disorders associated with metabolic dysfunction. Herein we discuss our study, "A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men," which describes the opposing metabolic phenotypes of mouse models for two prototypical genomic disorders,1,2Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS). SMS and PTLS are caused by reciprocal deletion or duplication copy number variations (CNVs), respectively, on chromosome 17p11.2. The implications of the results of this study and the potential relevance of these findings for future studies in the field of metabolism are discussed.
authors.affiliation: Department of Molecular and Human Genetics; Baylor College of Medicine; Houston, TX USA.
authors.forename: Melanie
authors.initials: M
authors.lastname: Lacaria
authors.forename: Wenli
authors.initials: W
authors.lastname: Gu
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
keywords: CNV; genomics; metabolic syndrome; mouse model; obesity; structural variation