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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
04:52

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Published on: February 3, 2023

A functional role for structural variation in metabolism.

Melanie Lacaria1, Wenli Gu, James R Lupski

  • 1Department of Molecular and Human Genetics; Baylor College of Medicine; Houston, TX USA.

Adipocyte
|May 24, 2013
PubMed
Summary
This summary is machine-generated.

Structural genomic variations influence metabolic health. A duplication in chromosome 17p11.2 confers traits opposite to metabolic syndrome, protecting against obesity in mouse models and humans.

Keywords:
CNVgenomicsmetabolic syndromemouse modelobesitystructural variation

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Genomic Imprinting

Background:

  • Structural genomic variations, such as copy number variations (CNVs), contribute to complex trait heritability.
  • Genomic disorders like Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) result from deletions or duplications on chromosome 17p11.2, respectively.
  • These syndromes are associated with metabolic dysfunction, highlighting a link between genomic structure and metabolic phenotypes.

Purpose of the Study:

  • To investigate the contribution of structural genomic variation to metabolic phenotypes.
  • To characterize opposing metabolic phenotypes in mouse models of SMS and PTLS.
  • To explore the protective effects of a specific duplication CNV against diet-induced obesity.

Main Methods:

  • Creation and analysis of chromosome-engineered mouse models for SMS and PTLS.
  • Phenotypic characterization focusing on metabolic traits, including obesity and metabolic syndrome indicators.
  • Comparative analysis of metabolic phenotypes between deletion and duplication models.

Main Results:

  • Mouse models exhibited opposing metabolic phenotypes, consistent with reciprocal genomic alterations.
  • A duplication CNV on chromosome 17p11.2 was associated with traits reciprocal to metabolic syndrome.
  • This duplication conferred protection against diet-induced obesity in mouse models.

Conclusions:

  • Structural genomic variation, specifically CNVs, plays a significant role in determining metabolic phenotypes.
  • The identified duplication CNV offers a protective effect against metabolic syndrome and obesity.
  • These findings have implications for understanding metabolic disorders and developing future research avenues.