dc.contributor.author | KUECHLER, Alma | |
dc.contributor.author | Gardiner, Brooke | |
dc.contributor.author | Emmet, Warren | |
dc.contributor.author | HURLES, Matthew E. | |
dc.contributor.author | JANECKE, Andreas R. | |
dc.contributor.author | Wilson, Louise C. | |
dc.contributor.author | Moore, Anthony T. | |
dc.contributor.author | Bockenhauer, Detlef | |
dc.contributor.author | Elcioglu, Nursel | |
dc.contributor.author | VODOPIUTZ, Julia | |
dc.contributor.author | Christou-Savina, Sonia | |
dc.contributor.author | CORTES, Claudio R. | |
dc.contributor.author | McInerney-Leo, Aideen M. | |
dc.contributor.author | Emes, Richard D. | |
dc.contributor.author | ARTS, Heleen H. | |
dc.contributor.author | D'Silva, Jason | |
dc.contributor.author | Leo, Paul J. | |
dc.contributor.author | Giles, Tom C. | |
dc.contributor.author | OUD, Machteld M. | |
dc.contributor.author | HARRIS, Jessica A. | |
dc.contributor.author | KOOPMANS, Marije | |
dc.contributor.author | MARSHALL, Mhairi | |
dc.contributor.author | WICKING, Carol | |
dc.contributor.author | Dopita, Belinda | |
dc.contributor.author | Zankl, Andreas | |
dc.contributor.author | Scambler, Peter J. | |
dc.contributor.author | Brown, Matthew A. | |
dc.contributor.author | Beales, Philip L. | |
dc.contributor.author | Duncan, Emma L. | |
dc.contributor.author | Mitchison, Hannah M. | |
dc.contributor.author | Kayserili, Hulya | |
dc.contributor.author | Tuysuz, Beyhan | |
dc.contributor.author | Schmidts, Miriam | |
dc.contributor.author | STREUBEL, Berthold | |
dc.date.accessioned | 2021-03-04T08:45:29Z | |
dc.date.available | 2021-03-04T08:45:29Z | |
dc.date.issued | 2013 | |
dc.identifier.citation | Schmidts M., VODOPIUTZ J., Christou-Savina S., CORTES C. R. , McInerney-Leo A. M. , Emes R. D. , ARTS H. H. , Tuysuz B., D'Silva J., Leo P. J. , et al., "Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy", AMERICAN JOURNAL OF HUMAN GENETICS, cilt.93, sa.5, ss.932-944, 2013 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.other | av_64df616a-7094-4958-a155-1e853f6ecdd3 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/70165 | |
dc.identifier.uri | https://doi.org/10.1016/j.ajhg.2013.10.003 | |
dc.description.abstract | Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2 motor complex that regulates ciliary retrograde protein transport contains a heavy chain dynein ATPase/motor subunit, DYNC2H1, along with other less well functionally defined subunits. Deficiency of IFT proteins, including DYNC2H1, underlies a spectrum of skeletal ciliopathies. Here, by using exome sequencing and a targeted next-generation sequencing panel, we identified a total of 11 mutations in WDR34 in 9 families with the clinical diagnosis of Jeune syndrome (asphyxiating thoracic dystrophy). WDR34 encodes a WD40 repeat-containing protein orthologous to Chlamydomonas FAP133, a dynein intermediate chain associated with the retrograde intraflagellar transport motor. Three-dimensional protein modeling suggests that the identified mutations all affect residues critical for WDR34 protein-protein interactions. We find that WDR34 concentrates around the centrioles and basal bodies in mammalian cells, also showing axonemal staining. WDR34 coimmunoprecipitates with the dynein-1 light chain DYNLL1 in vitro, and mining of proteomics data suggests that WDR34 could represent a previously unrecognized link between the cytoplasmic dynein-1 and IFT dynein-2 motors. Together, these data show that WDR34 is critical for ciliary functions essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-IFT machinery. | |
dc.language.iso | eng | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Temel Bilimler | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.title | Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy | |
dc.type | Makale | |
dc.relation.journal | AMERICAN JOURNAL OF HUMAN GENETICS | |
dc.contributor.department | Marmara Üniversitesi , , | |
dc.identifier.volume | 93 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 932 | |
dc.identifier.endpage | 944 | |
dc.contributor.firstauthorID | 9356 | |