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Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
Salil A Lachke1, Fowzan S Alkuraya, Stephen C Kneeland
1Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Science (New York, N.Y.)
|March 26, 2011
Summary
RNA granules (RGs) are crucial for gene expression. Mutations in TDRD7 cause cataracts and other developmental issues, revealing RGs
Area of Science:
- Developmental Biology
- Genetics
- Molecular Biology
Background:
- Precise gene expression control is vital for vertebrate development.
- Posttranscriptional regulation by RNA granules (RGs) is less understood, particularly in organogenesis.
- Loss-of-function mutations in TDRD7 are linked to pediatric cataracts.
Purpose of the Study:
- To investigate the role of TDRD7 and RNA granules in vertebrate organogenesis.
- To elucidate the function of TDRD7 in lens development and RG regulation.
- To understand the consequences of TDRD7 mutations in human and mouse models.
Main Methods:
- Analysis of human cases with pediatric cataract and TDRD7 mutations.
- Generation and analysis of Tdrd7 nullizygous mice.
- Characterization of TDRD7 protein localization and interactions in lens fiber cells.
- Co-immunoprecipitation of TDRD7 with specific lens mRNAs and STAU1-ribonucleoproteins (RNPs).
Main Results:
- Tdrd7 nullizygosity in mice leads to cataracts, glaucoma, and spermatogenesis arrest.
- TDRD7 is a Tudor domain RNA binding protein found in distinct RGs within lens fiber cells.
- TDRD7 interacts with STAU1-RNPs and specific lens mRNAs.
- TDRD7 is essential for the posttranscriptional control of mRNAs critical for lens development and RG function.
Conclusions:
- TDRD7 plays a critical role in posttranscriptional gene regulation essential for lens development.
- RNA granules are involved in vertebrate organogenesis.
- TDRD7 mutations have significant implications for ocular and reproductive health.
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