dc.contributor.author | Christesen, Henrik T. | |
dc.contributor.author | Sathe, Shashank | |
dc.contributor.author | Van Nostrand, Eric L. | |
dc.contributor.author | Schlachetzki, Zinayida | |
dc.contributor.author | Rosti, Basak | |
dc.contributor.author | Akizu, Naiara | |
dc.contributor.author | Scott, Eric | |
dc.contributor.author | Silhavy, Jennifer L. | |
dc.contributor.author | Heckman, Laura Dean | |
dc.contributor.author | Dikoglu, Esra | |
dc.contributor.author | Gregor, Anne | |
dc.contributor.author | Muramatsu, Kazuhiro | |
dc.contributor.author | Saitsu, Hirotomo | |
dc.contributor.author | Shiina, Masaaki | |
dc.contributor.author | Ogata, Kazuhiro | |
dc.contributor.author | Foulds, Nicola | |
dc.contributor.author | Dobyns, William B. | |
dc.contributor.author | Chi, Neil C. | |
dc.contributor.author | Traver, David | |
dc.contributor.author | Spaccini, Luigina | |
dc.contributor.author | Bova, Stefania Maria | |
dc.contributor.author | Gabrie, Stacey B. | |
dc.contributor.author | Gunel, Murat | |
dc.contributor.author | Valente, Enza Maria | |
dc.contributor.author | Nassogne, Marie-Cecile | |
dc.contributor.author | Bennett, Eric J. | |
dc.contributor.author | Yeo, Gene W. | |
dc.contributor.author | Baas, Frank | |
dc.contributor.author | Lykke-Andersen, Jens | |
dc.contributor.author | Gleeson, Joseph G. | |
dc.contributor.author | Bilguvar, Kaya | |
dc.contributor.author | Altunoglu, Umut | |
dc.contributor.author | Rosti, Rasim Ozgur | |
dc.contributor.author | Guemez-Gamboa, Alicia | |
dc.contributor.author | Musaev, Damir | |
dc.contributor.author | Mande, Rohit | |
dc.contributor.author | Widjaja, Ari | |
dc.contributor.author | Shaw, Tim L. | |
dc.contributor.author | Markmiller, Sebastian | |
dc.contributor.author | Marin-Valencia, Isaac | |
dc.contributor.author | Davies, Justin H. | |
dc.contributor.author | de Meirleir, Linda | |
dc.contributor.author | Kayserili, Hulya | |
dc.contributor.author | Freckmann, Mary Louise | |
dc.contributor.author | Warwick, Linda | |
dc.contributor.author | Chitayat, David | |
dc.contributor.author | Blaser, Susan | |
dc.contributor.author | Caglayan, Ahmet Okay | |
dc.contributor.author | PER, HÜSEYİN | |
dc.contributor.author | Fagerberg, Christina | |
dc.contributor.author | Kibaek, Maria | |
dc.contributor.author | Aldinger, Kimberly A. | |
dc.contributor.author | Manchester, David | |
dc.contributor.author | Matsumoto, Naomichi | |
dc.contributor.author | Lardelli, Rea M. | |
dc.contributor.author | Schaffer, Ashleigh E. | |
dc.contributor.author | Eggens, Veerle R. C. | |
dc.contributor.author | Zaki, Maha S. | |
dc.contributor.author | Grainger, Stephanie | |
dc.date.accessioned | 2021-03-04T12:49:38Z | |
dc.date.available | 2021-03-04T12:49:38Z | |
dc.date.issued | 2017 | |
dc.identifier.citation | Lardelli R. M. , Schaffer A. E. , Eggens V. R. C. , Zaki M. S. , Grainger S., Sathe S., Van Nostrand E. L. , Schlachetzki Z., Rosti B., Akizu N., et al., "Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing", NATURE GENETICS, cilt.49, sa.3, ss.457-464, 2017 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.other | av_794afd61-8a73-4521-9a7c-0388d3347c22 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/83138 | |
dc.identifier.uri | https://doi.org/10.1038/ng.3762 | |
dc.description.abstract | Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg2+-dependent 3'-end RNases with substrate specificity that is mostly unknowns. Pontocerebellar hypoplasia type 7 (PCH7) is a unique recessive syndrome characterized by neurodegeneration and ambiguous genitalia(2). We studied 12 human families with PCH7, uncovering biallelic, loss-of-function mutations in TOE1, which encodes an unconventional deadenylase(3,4). toe1-morphant zebrafish displayed midbrain and hindbrain degeneration, modeling PCH-like structural defects in vivo. Surprisingly, we found that TOE1 associated with small nuclear RNAs (snRNAs) incompletely processed spliceosomal. These pre-snRNAs contained 3' genome-encoded tails often followed by post-transcriptionally added adenosines. Human cells with reduced levels of TOE1 accumulated 3'-end-extended pre-snRNAs, and the immunoisolated TOE1 complex was sufficient for 3'-end maturation of snRNAs. Our findings identify the cause of a neurodegenerative syndrome linked to snRNA maturation and uncover a key factor involved in the processing of snRNA 3' ends. | |
dc.language.iso | eng | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.title | Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing | |
dc.type | Makale | |
dc.relation.journal | NATURE GENETICS | |
dc.contributor.department | University of California System , , | |
dc.identifier.volume | 49 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 457 | |
dc.identifier.endpage | 464 | |
dc.contributor.firstauthorID | 241456 | |