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E-GEOD-52974 - The 8q24 cleft lip susceptibility locus is a remote Myc enhancer required for normal face morphology

Released on 3 April 2014, last updated on 30 May 2014
Mus musculus
Samples (11)
Protocols (7)
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. ChIP-seq and transcriptomics analysis in wt or/and mutant mice
Experiment types
ChIP-seq, RNA-seq of coding RNA 
Massimo Petretich <>, François Spitz, Veli Uslu
Exp. designProtocolsVariablesProcessedSeq. reads
Investigation descriptionE-GEOD-52974.idf.txt
Sample and data relationshipE-GEOD-52974.sdrf.txt
Processed data (12)Click to browse processed data
Additional data (1)