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| Status |
Public on Feb 21, 2012 |
| Title |
Genome-wide analysis of 1 month old (P30) Tdrd7 null mouse lens |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by array
|
| Summary |
Analysis of Tdrd7 deficiency in mouse lens epithelial-derived cell line at gene expression level. The hypothesis tested was that Tdrd7 is involved in post-transcriptional control of gene expression in the lens. Results provide evidence for differential regulation of genes involved in lens homeostasis and cataract formation in the absence of Tdrd7.
In eukaryotic cells, cytoplasmic RNA granules (RGs) function in the post-transcriptional control of gene expression. However, the involvement of RGs and their component proteins in vertebrate organogenesis is unknown. We report two independent cases of pediatric cataract with loss-of-function mutations in TDRD7, which encodes a Tudor domain RNA binding protein. TDRD7 deficiency in chick lens produces cataracts, and Tdrd7 null mouse mutants develop cataracts, as well as features of glaucoma and male sterility due to azoospermia. In lens fiber cells, TDRD7 is necessary for the RG-mediated post-transcriptional control of critical lens mRNAs, while in the testis it functions as a component of a specialized RG, the chromatoid body. These findings define a new role for RGs in vertebrate organogenesis, and a novel mechanism for cataractogenesis.
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| |
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| Overall design |
Total RNA obtained from P30 Lens from Tdrd7 null mice compared to that of Tdrd7 heterozygous mice.
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| Contributor(s) |
Lachke SA, Maas RL |
| Citation(s) |
21436445 |
| Submission date |
Dec 02, 2010 |
| Last update date |
Jan 16, 2019 |
| Contact name |
Anton Aboukhalil |
| Organization name |
Massachusetts Institute of Technology
|
| Street address |
77 Avenue Louis Pasteur, 464
|
| City |
Boston |
| State/province |
MA |
| ZIP/Postal code |
02115 |
| Country |
USA |
| |
|
| Platforms (1) |
| GPL6887 |
Illumina MouseWG-6 v2.0 expression beadchip |
|
| Samples (6)
|
| GSM634241 |
Tdrd7 heterozygous P30 mouse lens rep1 |
| GSM634242 |
Tdrd7 heterozygous P30 mouse lens rep2 |
| GSM634243 |
Tdrd7 heterozygous P30 mouse lens rep3 |
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| This SubSeries is part of SuperSeries: |
| GSE25812 |
Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma |
|
| Relations |
| BioProject |
PRJNA142487 |
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