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PMID:8988166

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Citation

Howard, TD, Paznekas, WA, Green, ED, Chiang, LC, Ma, N, Ortiz de Luna, RI, Garcia Delgado, C, Gonzalez-Ramos, M, Kline, AD and Jabs, EW (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat. Genet. 15:36-41

Abstract

Saethre-Chotzen syndrome is one of the most common autosomal dominant disorders of craniosynostosis in humans and is characterized by craniofacial and limb anomalies. The locus for Saethre-Chotzen syndrome maps to chromosome 7p21-p22. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype. We mapped TWIST to human chromosome 7p21-p22 and mutational analysis reveals nonsense, missense, insertion and deletion mutations in patients. These mutations occur within the basic DNA binding, helix I and loop domains, or result in premature termination of the protein. Studies in Drosophila indicate that twist may affect the transcription of fibroblast growth factor receptors (FGFRs), another gene family implicated in human craniosynostosis. The emerging cascade of molecular components involved in craniofacial and limb development now includes TWIST, which may function as an upstream regulator of FGFRs.

Links

PubMed Online version:10.1038/ng0197-36

Keywords

Acrocephalosyndactylia/genetics; Chromosome Mapping; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 7; DNA Mutational Analysis; Female; Helix-Loop-Helix Motifs; Humans; Male; Molecular Sequence Data; Mutation; Nuclear Proteins; Pedigree; Transcription Factors/genetics; Twist Transcription Factor

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:TWST1

involved_in

GO:0048701: embryonic cranial skeleton morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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