Journal
SCIENCE
Volume 331, Issue 6024, Pages 1571-1576Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1195970
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Funding
- Barbara and Joseph Cohen Foundation
- Peace by Pieces Fund
- Dubai Harvard Foundation for Medical Research
- Kuwait University [YM01/09]
- Foundation Fighting Blindness
- American Heart Association
- [R01 EY10123]
- [R01 HD060050]
- [P01 GM061354]
- [KACST 08-MED497-20]
- [R01 EY11721]
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The precise transcriptional regulation of gene expression is essential for vertebrate development, but the role of posttranscriptional regulatory mechanisms is less clear. Cytoplasmic RNA granules (RGs) function in the posttranscriptional control of gene expression, but the extent of RG involvement in organogenesis is unknown. We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis. TDRD7 is a Tudor domain RNA binding protein that is expressed in lens fiber cells in distinct TDRD7-RGs that interact with STAU1-ribonucleoproteins (RNPs). TDRD7 coimmunoprecipitates with specific lens messenger RNAs (mRNAs) and is required for the posttranscriptional control of mRNAs that are critical to normal lens development and to RG function. These findings demonstrate a role for RGs in vertebrate organogenesis.
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