{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T00:31:10Z","timestamp":1790641870363,"version":"4.1.0"},"reference-count":107,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T00:00:00Z","timestamp":1589760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institutes of Health\/National Institute of General Medical Sciences","award":["P30 GM114736"],"award-info":[{"award-number":["P30 GM114736"]}]},{"name":"National Institutes of Health\/National Center for Research Resources","award":["1S10 RR027273\u201301"],"award-info":[{"award-number":["1S10 RR027273\u201301"]}]},{"name":"State of Delaware and National Institutes of Health\/National Institute of General Medical Sciences INBRE","award":["P20 GM103446"],"award-info":[{"award-number":["P20 GM103446"]}]},{"name":"National Science Foundation Fellowship"},{"name":"University of Delaware Research Foundation (UDRF), Inc"},{"name":"Knights Templar Pediatric Ophthalmology Career Starter"},{"name":"National Institutes of Health\/National Eye Institute","award":["R21 EY027389"],"award-info":[{"award-number":["R21 EY027389"]}]},{"name":"National Institutes of Health\/National Eye Institute","award":["R01 EY029770"],"award-info":[{"award-number":["R01 EY029770"]}]},{"name":"National Institutes of Health\/National Eye Institute","award":["R01 EY021505"],"award-info":[{"award-number":["R01 EY021505"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,29]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of the RNA granule component TDRD7 (OMIM: 611258) cause pediatric cataract. We applied an integrated approach to uncover the molecular pathology of cataract in Tdrd7\u2212\/\u2212 mice. Early postnatal Tdrd7\u2212\/\u2212 animals precipitously develop cataract suggesting a global-level breakdown\/misregulation of key cellular processes. High-throughput RNA sequencing integrated with iSyTE-bioinformatics analysis identified the molecular chaperone and cytoskeletal modulator, HSPB1, among high-priority downregulated candidates in Tdrd7\u2212\/\u2212 lens. A protein fluorescence two-dimensional difference in-gel electrophoresis (2D-DIGE)-coupled mass spectrometry screen also identified HSPB1 downregulation, offering independent support for its importance to Tdrd7\u2212\/\u2212 cataractogenesis. Lens fiber cells normally undergo nuclear degradation for transparency, posing a challenge: how is their cell morphology, also critical for transparency, controlled post-nuclear degradation? HSPB1 functions in cytoskeletal maintenance, and its reduction in Tdrd7\u2212\/\u2212 lens precedes cataract, suggesting cytoskeletal defects may contribute to Tdrd7\u2212\/\u2212 cataract. In agreement, scanning electron microscopy (SEM) revealed abnormal fiber cell morphology in Tdrd7\u2212\/\u2212 lenses. Further, abnormal phalloidin and wheat germ agglutinin (WGA) staining of Tdrd7\u2212\/\u2212 fiber cells, particularly those exhibiting nuclear degradation, reveals distinct regulatory mechanisms control F-actin cytoskeletal and\/or membrane maintenance in post-organelle degradation maturation stage fiber cells. Indeed, RNA immunoprecipitation identified Hspb1 mRNA in wild-type lens lysate TDRD7-pulldowns, and single-molecule RNA imaging showed co-localization of TDRD7 protein with cytoplasmic Hspb1 mRNA in differentiating fiber cells, suggesting that TDRD7\u2013ribonucleoprotein complexes may be involved in optimal buildup of key factors. Finally, Hspb1 knockdown in Xenopus causes eye\/lens defects. Together, these data uncover TDRD7\u2019s novel upstream role in elevation of stress-responsive chaperones for cytoskeletal maintenance in post-nuclear degradation lens fiber cells, perturbation of which causes early-onset cataracts.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa096","type":"journal-article","created":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T22:14:29Z","timestamp":1589494469000},"page":"2076-2097","source":"Crossref","is-referenced-by-count":38,"title":["The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology"],"prefix":"10.1093","volume":"29","author":[{"given":"Carrie E","family":"Barnum","sequence":"first","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Al Saai","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaili D","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Cheng","sequence":"additional","affiliation":[{"name":"School of Optometry, Indiana University, Bloomington, IN 47405, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Anand","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolu","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9030-3341","authenticated-orcid":false,"given":"Soma","family":"Dash","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archana D","family":"Siddam","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Glazewski","sequence":"additional","affiliation":[{"name":"Nemours Biomedical Research Department, Alfred I duPont Hospital for Children, Wilmington, DE 19803, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Paglione","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn W","family":"Polson","sequence":"additional","affiliation":[{"name":"Center for Bioinformatics & Computational Biology, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichiro","family":"Chuma","sequence":"additional","affiliation":[{"name":"Institute for Frontier Medical Sciences, Kyoto University, Kyoto 606-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W","family":"Mason","sequence":"additional","affiliation":[{"name":"Nemours Biomedical Research Department, Alfred I duPont Hospital for Children, Wilmington, DE 19803, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuo","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19716, 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