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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
E-mail(s) petretic@embl.de
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)
Relations
BioProject PRJNA230608
SRA SRP033501

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE52974_RAW.tar 1.9 Gb (http)(custom) TAR (of BED, BW, TXT)
GSE52974_RNAseq_gene.read.count.tsv.gz 359.9 Kb (ftp)(http) TSV
SRA Run SelectorHelp
Raw data are available in SRA
Processed data are available on Series record

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