Ontology highlight
ABSTRACT:
SUBMITTER: Lachke SA
PROVIDER: S-EPMC3279122 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20110301 6024
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 g ...[more]