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Series GSE52974 Query DataSets for GSE52974
Status Public on Apr 03, 2014
Title The 8q24 cleft lip susceptibility locus is a remote Myc enhancer required for normal face morphology
Organism Mus musculus
Experiment type Genome binding/occupancy profiling by high throughput sequencing
Expression profiling by high throughput sequencing
Summary 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.
Overall design ChIP-seq and transcriptomics analysis in wt or/and mutant mice
Contributor(s) Uslu V, Spitz F
Citation(s) 24859337
Submission date Dec 04, 2013
Last update date May 15, 2019
Contact name Massimo Petretich
Phone 0049-(0)62213878569
Organization name EMBL
Department Developmental biology
Lab Spitz
Street address Meyerhofstra├če 1
City Heidelberg
ZIP/Postal code 69117
Country Germany
Platforms (1)
GPL13112 Illumina HiSeq 2000 (Mus musculus)
Samples (11)
GSM1279691 H3K27ac ChIP-seq
GSM1279692 H3K4me1 ChiP-seq
GSM1279693 input (ChIP)
BioProject PRJNA230608
SRA SRP033501

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Supplementary file Size Download File type/resource
GSE52974_RAW.tar 1.9 Gb (http)(custom) TAR (of BED, BW, TXT) 359.9 Kb (ftp)(http) TSV
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Raw data are available in SRA
Processed data are available on Series record

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