Natural TWIST protein variants in a panel of eleven non-human primates: possible implications of TWIST gene-tree for primate species tree.

The twist gene is implied in head morphogenesis, as human patients heterozygous at TWIST and heterozygous M-twist mutant mice present similar cranial-facial abnormalities. M-twist and TWIST are respectively unique genes, coding for a B-HLH transcription factor. We identified twist coding sequences from 11 species representing 7 families of primates, report their conservation and genus-specific amino acid substitutions, and present a tentative gene-tree of these sequences.

Mouse Twist is required for fibroblast growth factor-mediated epithelial-mesenchymal signalling and cell survival during limb morphogenesis.

Mouse Twist is essential for cranial neural tube, limb and somite development. [Genes Dev. 9 (1995) 686].

Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.

Saethre-Chotzen syndrome is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Variable expressivity is a well-known phenomenon in this disorder. A large Indian family has been recently identified as carrying a nonsense TWIST mutation (Q28 X) in 17 members, of whom 16 were examined in detail.