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| Status |
Public on Aug 03, 2016 |
| Title |
RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Using a targeted Gtf2ird1 knockout mouse, we employed massively-parallel sequencing of mRNA (RNA-Seq) to understand changes in the transcriptional landscape associated with inactivation of Gtf2ird1 in lip tissue. We found widespread dysregulation of genes including differential expression of 78 transcription factors or coactivators, several involved in organ development including Hey1, Myf6, Myog, Dlx2, Gli1, Gli2, Lhx2, Pou3f3, Sox2, and Foxp3. We also found that the absence of GTF2IRD1 is associated with increased expression of genes involved in cellular proliferation, including growth factors consistent with the observed phenotype of extreme thickening of the epidermis. At the same time, there was a decrease in the expression of genes involved in other signalling mechanisms, including the Wnt pathway, indicating dysregulation in the complex networks necessary for epidermal differentiation and facial skin patterning. Several of the differentially expressed genes have known roles in both tissue development and neurological function, such as the transcription factor Lhx2 which regulates several genes involved in both skin and brain development.
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| Overall design |
mRNA sequencing of lip tissue from 3 wild type mice (WT) and 3 Gtf2ird1 knockout mice generated by deep sequencing using Illumina HiSeq 2000 platform at the Ramaciotti Centre for Genomics UNSW.
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| Contributor(s) |
Corley SM, Canales CP, Wilkins MR, Palmer SJ |
| Citation missing |
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| Submission date |
May 03, 2016 |
| Last update date |
May 15, 2019 |
| Contact name |
Susan Corley |
| E-mail(s) |
s.corley@unsw.edu.au
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| Phone |
+61 02 9385 8853
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| Organization name |
UNSW
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| Department |
Biotechnology & Biomolecular Sciences
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| Lab |
Systems Biology Initiative
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| Street address |
D26, Kensignton Campus
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| City |
Sydney |
| State/province |
NSW |
| ZIP/Postal code |
2052 |
| Country |
Australia |
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| Platforms (1) |
| GPL13112 |
Illumina HiSeq 2000 (Mus musculus) |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA320433 |
| SRA |
SRP074330 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE81082_count_matrix.txt.gz |
328.5 Kb |
(ftp)(http) |
TXT |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data are available on Series record |
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