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The 8q24 cleft lip susceptibility locus is a remote Myc enhancer required for normal face morphology

ABSTRACT: A 640kb non-coding interval at 8q24 has been associated with an increased risk of non-syndromic cleft lip and palate (CLP) in humans, but the genes and pathways involved in this genetic susceptibility have remained elusive. With a large series of rearrangements engineered over the syntenic mouse region, we showed that this interval contains very remote cis-acting enhancers that control c-myc expression in the developing face. Deletion of this interval led to mild alteration of facial morphologies in mice and, sporadically, to CLP. At a molecular level, we identified mis-expression of several downstream genes, highlighting a combined impact on cranio-facial developmental network and general metabolic capacity. This dual molecular etiology may account for the prominent role to the 8q24 region in human facial dysmorphologies.

ORGANISM(S): Mus musculus

PROVIDER: GSE52974 | GEO | 2014/04/03

SECONDARY ACCESSION(S): PRJNA230608

REPOSITORIES: GEO

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The 8q24 cleft lip susceptibility locus is a remote Myc enhancer required for normal face morphology

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