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Article

Mutations within helix I of Twist1 result in distinct limb defects and variation of DNA binding affinities.

The Journal of biological chemistry - 14 Sept 2007

Firulli Beth A, Redick Bradley A, Conway Simon J, Firulli Anthony B

Abstract excerpt

Twist1 is a basic helix-loop-helix (bHLH) factor that plays an important role in limb development. Haploinsufficiency of Twist1 results in polydactyly via the inability of Twist1 to antagonistically regulate the related factor Hand2. The mechanism modulating Twist1-Hand2 antagonism is via phosphoregulation of conserved threonine and serine residues in helix I of the bHLH domain. Phosphoregulation alters the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Limb Deformities, Congenital

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Source

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Identifiers

PMID: 17652084
DOI: 10.1074/jbc.M702613200
PMCID: PMC2556885

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations within helix I of Twist1 result in distinct limb defects and variation of DNA binding affinities.PMID 17652084Read ↗

Phosphoregulation of Twist1 provides a mechanism of cell fate control.Semantic proximity Read ↗

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TWIST1 homodimers and heterodimers orchestrate lineage-specific differentiationSemantic proximity Read ↗

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An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.Semantic proximity Read ↗

Twist1 activity thresholds define multiple functions in limb development.Semantic proximity Read ↗

Interhelical loops within the bHLH domain are determinant in maintaining TWIST1-DNA complexes.Semantic proximity Read ↗

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