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| 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
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| 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.
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| Overall design |
ChIP-seq and transcriptomics analysis in wt or/and mutant mice
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| Contributor(s) |
Uslu V, Spitz F |
| Citation(s) |
24859337 |
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| Submission date |
Dec 04, 2013 |
| Last update date |
May 15, 2019 |
| Contact name |
Massimo Petretich |
| E-mail(s) |
petretic@embl.de
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| Phone |
0049-(0)62213878569
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| Organization name |
EMBL
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| Department |
Developmental biology
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| Lab |
Spitz
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| Street address |
Meyerhofstraße 1
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| City |
Heidelberg |
| ZIP/Postal code |
69117 |
| Country |
Germany |
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| Platforms (1) |
| GPL13112 |
Illumina HiSeq 2000 (Mus musculus) |
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| Samples (11)
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| Relations |
| BioProject |
PRJNA230608 |
| SRA |
SRP033501 |
| 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 Selector |
| Raw data are available in SRA |
| Processed data are available on Series record |
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