Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome

Genetics. 2005 Jun;170(2):971-4. doi: 10.1534/genetics.105.041277. Epub 2005 Mar 31.

Abstract

In Drosophila, mutations in the Twist gene interact with mutations in the Snail gene. We show that the mouse Twist1 mutation interacts with Snai1 and Snai2 mutations to enhance aberrant cranial suture fusion, demonstrating that genetic interactions between genes of the Twist and Snail families have been conserved during evolution.

Publication types

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

MeSH terms

  • Acrocephalosyndactylia / genetics*
  • Animals
  • Cranial Sutures / embryology
  • Craniosynostoses / genetics
  • Drosophila
  • Evolution, Molecular
  • Genotype
  • Heterozygote
  • Humans
  • Mice
  • Mice, Transgenic
  • Mutation
  • Nuclear Proteins / genetics*
  • Phenotype
  • Polydactyly
  • Snail Family Transcription Factors
  • Transcription Factors / genetics*
  • Transcription Factors / physiology
  • Twist-Related Protein 1 / genetics*

Substances

  • Nuclear Proteins
  • SNAI1 protein, human
  • SNAI2 protein, human
  • Snai1 protein, mouse
  • Snai2 protein, mouse
  • Snail Family Transcription Factors
  • Transcription Factors
  • Twist-Related Protein 1
  • sna protein, Drosophila
  • Twist1 protein, mouse