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SIX1 branchio-oto-renal syndrome variants have different effects on embryonic craniofacial gene expression and cartilage formation.

Development (Cambridge, England) - 1 Jul 2026

Coppenrath Kelsey, Shaidani Nikko-Ideen, Naert Thomas, Majumdar Himani D, Horb Marko, Lienkamp Soeren S, Klein Steven L, Moody Sally A

Abstract excerpt

SIX1 variants underlying branchio-oto-renal syndrome occur in the SIX domain (SD) or homeodomain (HD). We tested whether different variants - V17E (SD), Y129C (HD) - cause distinct developmental phenotypes in Xenopus embryos with reduced Six1 in comparison to wild-type Six1 (Six1WT). In Six1 morphants, Six1WT restored neural crest and preplacodal gene expression; V17E restored foxd3 and irx1 better than Y129C,...

Topics

Animals
Branchio-Oto-Renal Syndrome
Homeodomain Proteins
Xenopus Proteins
Gene Expression Regulation, Developmental
Cartilage
Protein Tyrosine Phosphatases
Xenopus laevis
Neural Crest
Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Craniofacial Abnormalities

Nuclear Proteins

Skull

Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 42290293
DOI: 10.1242/dev.205428
PMCID: PMC13347299

Genes

SIX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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SIX1 branchio-oto-renal syndrome variants have different effects on embryonic craniofacial gene expression and cartilage formation.PMID 42290293Read ↗

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