Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice

Nature. 2010 Mar 18;464(7287):409-12. doi: 10.1038/nature08801. Epub 2010 Feb 21.

Abstract

Sequence polymorphisms in a 58-kilobase (kb) interval on chromosome 9p21 confer a markedly increased risk of coronary artery disease (CAD), the leading cause of death worldwide. The variants have a substantial effect on the epidemiology of CAD and other life-threatening vascular conditions because nearly one-quarter of Caucasians are homozygous for risk alleles. However, the risk interval is devoid of protein-coding genes and the mechanism linking the region to CAD risk has remained enigmatic. Here we show that deletion of the orthologous 70-kb non-coding interval on mouse chromosome 4 affects cardiac expression of neighbouring genes, as well as proliferation properties of vascular cells. Chr4(Delta70kb/Delta70kb) mice are viable, but show increased mortality both during development and as adults. Cardiac expression of two genes near the non-coding interval, Cdkn2a and Cdkn2b, is severely reduced in chr4(Delta70kb/Delta70kb) mice, indicating that distant-acting gene regulatory functions are located in the non-coding CAD risk interval. Allele-specific expression of Cdkn2b transcripts in heterozygous mice showed that the deletion affects expression through a cis-acting mechanism. Primary cultures of chr4(Delta70kb/Delta70kb) aortic smooth muscle cells exhibited excessive proliferation and diminished senescence, a cellular phenotype consistent with accelerated CAD pathogenesis. Taken together, our results provide direct evidence that the CAD risk interval has a pivotal role in regulation of cardiac Cdkn2a/b expression, and suggest that this region affects CAD progression by altering the dynamics of vascular cell proliferation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Aorta / pathology
  • Cell Proliferation
  • Cells, Cultured
  • Cellular Senescence / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 9 / genetics
  • Chromosomes, Mammalian / genetics*
  • Coronary Artery Disease / genetics*
  • Coronary Artery Disease / pathology
  • Cyclin-Dependent Kinase Inhibitor p15 / deficiency
  • Cyclin-Dependent Kinase Inhibitor p15 / genetics
  • Cyclin-Dependent Kinase Inhibitor p16 / deficiency
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Embryo, Mammalian / embryology
  • Gene Expression Regulation / genetics
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Mice
  • Myocytes, Smooth Muscle / pathology
  • Survival Analysis

Substances

  • Cdkn2a protein, mouse
  • Cdkn2b protein, mouse
  • Cyclin-Dependent Kinase Inhibitor p15
  • Cyclin-Dependent Kinase Inhibitor p16