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Somatic Genetic Mosaicism in the Apolipoprotein E-null Mouse Aorta.

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Somatic mutations in aorta and liver may increase cardiovascular disease risk. These private variants (PVs) show tissue-specific DNA mosaicism in ApoE null mice, suggesting new research avenues.

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Area of Science:

  • Genetics
  • Cardiovascular Science
  • Molecular Biology

Background:

  • Somatic variation, beyond genetic and epigenetic inheritance, is increasingly recognized as a factor in cardiovascular disease (CVD) risk.
  • While CVD-associated somatic mutations are known in clonal hematopoiesis, their presence in atherosclerotic lesions (atheroma) remains under-investigated.

Purpose of the Study:

  • To investigate the presence and characteristics of somatic variation, specifically single-nucleotide private variants (PVs), within atherosclerotic tissues.
  • To determine if these PVs are specific to the aorta and liver in a mouse model with disrupted ApoE function.

Main Methods:

  • Whole-exome sequencing (WES) and RNA-sequencing were performed on aorta, liver, and skeletal muscle tissues from ApoE null and wild-type (WT) coisogenic mice.
  • Pyrosequencing was used to validate identified PVs and assess allele frequency shifts.
  • Analysis focused on identifying private variants (PVs) relative to the reference genome and comparing findings between ApoE null and WT siblings.

Main Results:

  • ApoE null mice exhibited aorta- and liver-specific PVs shared across WES and RNA-seq data, with minimal corresponding PVs in WT siblings.
  • Pyrosequencing confirmed tissue-specific allele shifts and deviations from Mendelian ratios for these PVs.
  • Identified PVs were located within atherosclerosis-related genes and clustered near hypermutable immunoglobulin loci, mirroring patterns seen in human clonal hematopoiesis.

Conclusions:

  • Atherosclerosis-associated somatic DNA mosaicism occurs in a tissue-specific manner in ApoE null mice.
  • These findings suggest that somatic variation in non-hematopoietic tissues may contribute to cardiovascular disease risk.
  • The observed patterns have implications for the design of genetic association studies and propose mechanistic hypotheses for somatic mutation generation.