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Article

Neanderthal-derived variants increase SOX9 enhancer activity in craniofacial progenitors that shape jaw development.

Development (Cambridge, England) - 1 Nov 2025

Uttley Kirsty, Jüllig Hannah J, De Angelis Carlo, Auer Julia M T, Ozga Ewa, Bengani Hemant, Long Hannah K

Abstract excerpt

Human facial appearance is a highly variable morphological trait, with both rare and common genetic variants shaping craniofacial morphology between individuals and in disease. Deletions encompassing an enhancer cluster 1.45 megabases upstream of SOX9 (EC1.45) cause Pierre Robin sequence, a craniofacial disorder characterised by underdevelopment of the lower jaw and associated with cleft palate. We hypothesised...

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Enhancer Elements, Genetic
Jaw
Neanderthals
Neural Crest
Skull

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

SOX9 Transcription Factor

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Open in PubMed Open full text

Identifiers

PMID: 41208708
DOI: 10.1242/dev.204779
PMCID: PMC12669974

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SOX9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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