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Article

Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants.

Journal of molecular medicine (Berlin, Germany) - 1 Jul 2006

Chatelain Gilles, Fossat Nicolas, Brun Gilbert, Lamonerie Thomas

Abstract excerpt

The paired-type homeodomain transcription factor Otx2 is essential for forebrain and eye development. Severe ocular malformations in humans have recently been associated with heterozygous OTX2 mutations. To document the molecular defects in human mutants, Otx2 structural characterization was carried out. A collection of deletion and point mutants was created to perform transactivation, DNA binding, and...

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Source

Identifiers

PMID: 16607563
DOI: 10.1007/s00109-006-0048-2

Genes

OTX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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