MicroRNA-17-92, a direct Ap-2α transcriptional target, modulates T-box factor activity in orofacial clefting

PLoS Genet. 2013;9(9):e1003785. doi: 10.1371/journal.pgen.1003785. Epub 2013 Sep 19.

Abstract

Among the most common human congenital anomalies, cleft lip and palate (CL/P) affects up to 1 in 700 live births. MicroRNA (miR)s are small, non-coding RNAs that repress gene expression post-transcriptionally. The miR-17-92 cluster encodes six miRs that have been implicated in human cancers and heart development. We discovered that miR-17-92 mutant embryos had severe craniofacial phenotypes, including incompletely penetrant CL/P and mandibular hypoplasia. Embryos that were compound mutant for miR-17-92 and the related miR-106b-25 cluster had completely penetrant CL/P. Expression of Tbx1 and Tbx3, the DiGeorge/velo-cardio-facial (DGS) and Ulnar-mammary syndrome (UMS) disease genes, was expanded in miR-17-92 mutant craniofacial structures. Both Tbx1 and Tbx3 had functional miR seed sequences that mediated gene repression. Analysis of miR-17-92 regulatory regions uncovered conserved and functional AP-2α recognition elements that directed miR-17-92 expression. Together, our data indicate that miR-17-92 modulates expression of critical T-box transcriptional regulators during midface development and is itself a target of Bmp-signaling and the craniofacial pioneer factor AP-2α. Our data are the first genetic evidence that an individual miR or miR cluster is functionally important in mammalian CL/P.

Publication types

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

MeSH terms

  • Animals
  • Base Sequence
  • Cleft Lip / genetics*
  • Cleft Lip / pathology
  • Cleft Palate / genetics*
  • Cleft Palate / pathology
  • Disease Models, Animal
  • Embryo, Mammalian / pathology
  • Gene Expression Regulation
  • Humans
  • MicroRNAs / genetics*
  • Regulatory Sequences, Nucleic Acid / genetics
  • Signal Transduction
  • T-Box Domain Proteins / genetics
  • Transcription Factor AP-2 / genetics*
  • Transcription Factor AP-2 / metabolism

Substances

  • MIRN17-92 microRNA, mouse
  • MicroRNAs
  • T-Box Domain Proteins
  • Transcription Factor AP-2

Associated data

  • GEO/GSE28876