Functional analysis of natural mutations in two TWIST protein motifs.

Journal article

The basic helix-loop-helix protein Twist, a transcriptional repressor, is essential for embryogenesis in both invertebrates and vertebrates. Haploinsufficiency of the human TWIST1 gene, which causes the craniosynostosis disorder Saethre-Chotzen syndrome (SCS), is related to failure to repress transcription of CDKN1A (which encodes p21/WAF1/CIP1), promoting osteoblast differentiation. We have examined the functional significance of natural TWIST1 variants present in craniosynostosis patients a...

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Authors: Funato, N; Twigg, SR; Higashihori, N; Ohyama, K; Wall, SA

• Publication status: Published
• Journal: Human mutation
• Volume: 25
• Issue: 6
• Pages: 550-556
• Publication date: 2005-06-01
• DOI: 10.1002/humu.20176
• EISSN: 1098-1004
• ISSN: 1059-7794
• Language: English
• Keywords: Child, Preschool; Molecular Sequence Data; COS Cells; Transcriptional Activation; Animals; Amino Acid Motifs; Female; Mutation; Cyclin-Dependent Kinase Inhibitor p21; Promoter Regions, Genetic; p300-CBP Transcription Factors; Twist Transcription Factor; Nuclear Localization Signals; Nuclear Proteins; DNA Mutational Analysis; Cercopithecus aethiops; Humans