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| Status |
Public on Dec 05, 2017 |
| Title |
Epigentic profiling of murine proximal and distal femoral growth plates at E15.5 of mouse gestation |
| Organism |
Mus musculus |
| Experiment type |
Genome binding/occupancy profiling by high throughput sequencing
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| Summary |
GWAS have identified hundreds of loci associated with height.However, determining causal mechanisms is challenging, especially since height-relevant tissues such as the growth plate are difficult to study. To discover mechanisms by which height GWAS variants function, we performed epigenetic profiling of murine femoral growth plates. The profiled open chromatin regions recapitulate known chondrocyte and skeletal biology and are enriched at height GWAS loci, particularly near differentially expressed growth plate genes. These regions are also enriched in binding motifs of transcription factors with known roles in chondrocyte biology. At specific loci, our analyses identified compelling mechanisms for GWAS variants. For example, at the CHYS1 locus, we identified a potentially causal variant overlapping an open chromatin region and predicted to alter binding of HOXD13, important for skeletal development. Thus, integrating biologically relevant epigenetic information (here, from mouse growth plate) with genetic association results can identify biological mechanisms important for human growth.
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| Overall design |
Examination of open chromatin regions in two different growth plates (proximal vs distal femur) at E15.5
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| Contributor(s) |
Capellini TD, Jagoda E, Guo MH, Willen J |
| Citation(s) |
29205154 |
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| Submission date |
Jun 28, 2017 |
| Last update date |
Jul 25, 2021 |
| Contact name |
Terence D Capellini |
| E-mail(s) |
drichard@g.harvard.edu, tcapellini@g.harvard.edu
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| Phone |
6173010673
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| Organization name |
Harvard Univserity
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| Department |
Human Evolutionary Biology
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| Lab |
Capellini
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| Street address |
11 Divinity Avenue
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| City |
Cambridge |
| State/province |
MA |
| ZIP/Postal code |
02138 |
| Country |
USA |
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| Platforms (1) |
| GPL19057 |
Illumina NextSeq 500 (Mus musculus) |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA392227 |
| SRA |
SRP110656 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE100585_RAW.tar |
480.0 Kb |
(http)(custom) |
TAR (of TXT) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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