Long-range enhancers regulating Myc expression are required for normal facial morphogenesis

Nat Genet. 2014 Jul;46(7):753-8. doi: 10.1038/ng.2971. Epub 2014 May 25.

Abstract

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations observed in humans, with 1 occurrence in every 500-1,000 births. A 640-kb noncoding interval at 8q24 has been associated with increased risk of non-syndromic CL/P in humans, but the genes and pathways involved in this genetic susceptibility have remained elusive. Using a large series of rearrangements engineered over the syntenic mouse region, we show that this interval contains very remote cis-acting enhancers that control Myc expression in the developing face. Deletion of this interval leads to mild alteration of facial morphology in mice and, sporadically, to CL/P. At the molecular level, we identify misexpression of several downstream genes, highlighting combined impact on the craniofacial developmental network and the general metabolic capacity of cells contributing to the future upper lip. This dual molecular etiology may account for the prominent influence of variants in the 8q24 region on human facial dysmorphologies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Proliferation
  • Chromatin Immunoprecipitation
  • Cleft Lip / genetics*
  • Cleft Lip / metabolism
  • Cleft Lip / pathology
  • Cleft Palate / genetics*
  • Cleft Palate / metabolism
  • Cleft Palate / pathology
  • Embryo, Mammalian / cytology
  • Embryo, Mammalian / metabolism
  • Enhancer Elements, Genetic / genetics*
  • Face / physiopathology*
  • Female
  • Gene Expression Regulation*
  • Genetic Predisposition to Disease
  • Humans
  • In Situ Hybridization
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Morphogenesis*
  • Proto-Oncogene Proteins c-myc / genetics
  • Proto-Oncogene Proteins c-myc / metabolism*
  • RNA, Messenger / genetics
  • Real-Time Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • MYC protein, human
  • Proto-Oncogene Proteins c-myc
  • RNA, Messenger

Associated data

  • GEO/GSM1279691
  • GEO/GSM1279692
  • GEO/GSM1279693
  • GEO/GSM1279694
  • GEO/GSM1279695
  • GEO/GSM1279696
  • GEO/GSM1279697
  • GEO/GSM1279698
  • GEO/GSM1279699
  • GEO/GSM1279700
  • GEO/GSM1279701