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Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

Science (New York, N.Y.) | Mar 25, 2011

http://www.ncbi.nlm.nih.gov/pubmed/21436445

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.

Pubmed ID: 21436445 RIS Download

Mesh terms: Animals | Cataract | Cell Line | Chick Embryo | Crystallins | Cytoplasmic Granules | Embryonic Development | Female | Gene Expression Regulation, Developmental | Gene Knockdown Techniques | Glaucoma | Humans | Hypospadias | Lens, Crystalline | Male | Mice | Mutation | Organogenesis | Protein Biosynthesis | RNA, Messenger | RNA-Binding Proteins | Ribonucleoproteins | Spermatogenesis

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Associated grants

  • Agency: NIGMS NIH HHS, Id: P01 GM061354
  • Agency: NIGMS NIH HHS, Id: P01 GM061354
  • Agency: NIGMS NIH HHS, Id: P01 GM061354-07
  • Agency: NEI NIH HHS, Id: R01 EY010123
  • Agency: NEI NIH HHS, Id: R01 EY010123-15
  • Agency: NEI NIH HHS, Id: R01 EY011721
  • Agency: NEI NIH HHS, Id: R01 EY011721-15
  • Agency: NEI NIH HHS, Id: R01 EY10123
  • Agency: NEI NIH HHS, Id: R01 EY11721
  • Agency: NICHD NIH HHS, Id: R01 HD060050
  • Agency: NICHD NIH HHS, Id: R01 HD060050
  • Agency: NICHD NIH HHS, Id: R01 HD060050-04
  • Agency: Howard Hughes Medical Institute, Id:

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