dc.date.accessioned | 2018-08-21T12:27:13Z | |
dc.date.available | 2018-08-21T12:27:13Z | |
dc.date.created | 2017-10-05T14:38:42Z | |
dc.date.issued | 2017 | |
dc.identifier.citation | Gabriele, Michele Vulto-van Silfhout, Anneke T. Germain, Pierre-Luc Vitriolo, Alessandro Kumar, Raman Douglas, Evelyn Haan, Eric Kosaki, Kenjiro Takenouchi, Toshiki Rauch, Anita Steindl, Katharina Frengen, Eirik Misceo, Doriana Christeen Ramane, Pedurupillay Jesuthasan Strømme, Petter Rosenfeld, Jill A. Shao, Yunru Craigen, William J. Schaaf, Christian P. Rodriguez-Buritica, David Farach, Laura Friedman, Jennifer Thulin, Perla McLean, Scott D. Nugent, Kimberly M. Morton, Jenny Nicholl, Jillian Andrieux, Joris Stray-Pedersen, Asbjørg Chambon, Pascal Patrier, Sophie Lynch, Sally A. Kjærgaard, Susanne Tørring, Pernille M. Brasch-Andersen, Charlotte Ronan, Anne van Haeringen, Arie Anderson, Peter J. Powis, Zoë Brunner, Han G. Pfundt, Rolph Schuurs-Hoeijmakers, Janneke H.M. van Bon, Bregje W.M. Lelieveld, Stefan Gilissen, Christian Nillesen, Willy M. Vissers, Lisenka E.L.M. Gecz, Jozef Koolen, David A. Testa, Giuseppe de Vries, Bert B.A. . YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics. 2017, 100(6), 907-925 | |
dc.identifier.uri | http://hdl.handle.net/10852/63294 | |
dc.description.abstract | Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define “YY1 syndrome” as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals’ cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators. | en_US |
dc.language | EN | |
dc.publisher | University of Chicago Press | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.title | YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction | en_US |
dc.type | Journal article | en_US |
dc.creator.author | Gabriele, Michele | |
dc.creator.author | Vulto-van Silfhout, Anneke T. | |
dc.creator.author | Germain, Pierre-Luc | |
dc.creator.author | Vitriolo, Alessandro | |
dc.creator.author | Kumar, Raman | |
dc.creator.author | Douglas, Evelyn | |
dc.creator.author | Haan, Eric | |
dc.creator.author | Kosaki, Kenjiro | |
dc.creator.author | Takenouchi, Toshiki | |
dc.creator.author | Rauch, Anita | |
dc.creator.author | Steindl, Katharina | |
dc.creator.author | Frengen, Eirik | |
dc.creator.author | Misceo, Doriana | |
dc.creator.author | Christeen Ramane, Pedurupillay Jesuthasan | |
dc.creator.author | Strømme, Petter | |
dc.creator.author | Rosenfeld, Jill A. | |
dc.creator.author | Shao, Yunru | |
dc.creator.author | Craigen, William J. | |
dc.creator.author | Schaaf, Christian P. | |
dc.creator.author | Rodriguez-Buritica, David | |
dc.creator.author | Farach, Laura | |
dc.creator.author | Friedman, Jennifer | |
dc.creator.author | Thulin, Perla | |
dc.creator.author | McLean, Scott D. | |
dc.creator.author | Nugent, Kimberly M. | |
dc.creator.author | Morton, Jenny | |
dc.creator.author | Nicholl, Jillian | |
dc.creator.author | Andrieux, Joris | |
dc.creator.author | Stray-Pedersen, Asbjørg | |
dc.creator.author | Chambon, Pascal | |
dc.creator.author | Patrier, Sophie | |
dc.creator.author | Lynch, Sally A. | |
dc.creator.author | Kjærgaard, Susanne | |
dc.creator.author | Tørring, Pernille M. | |
dc.creator.author | Brasch-Andersen, Charlotte | |
dc.creator.author | Ronan, Anne | |
dc.creator.author | van Haeringen, Arie | |
dc.creator.author | Anderson, Peter J. | |
dc.creator.author | Powis, Zoë | |
dc.creator.author | Brunner, Han G. | |
dc.creator.author | Pfundt, Rolph | |
dc.creator.author | Schuurs-Hoeijmakers, Janneke H.M. | |
dc.creator.author | van Bon, Bregje W.M. | |
dc.creator.author | Lelieveld, Stefan | |
dc.creator.author | Gilissen, Christian | |
dc.creator.author | Nillesen, Willy M. | |
dc.creator.author | Vissers, Lisenka E.L.M. | |
dc.creator.author | Gecz, Jozef | |
dc.creator.author | Koolen, David A. | |
dc.creator.author | Testa, Giuseppe | |
dc.creator.author | de Vries, Bert B.A. | |
cristin.unitcode | 185,53,18,10 | |
cristin.unitname | Avdeling for medisinsk genetikk | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 1502574 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=American Journal of Human Genetics&rft.volume=100&rft.spage=907&rft.date=2017 | |
dc.identifier.jtitle | American Journal of Human Genetics | |
dc.identifier.volume | 100 | |
dc.identifier.issue | 6 | |
dc.identifier.startpage | 907 | |
dc.identifier.endpage | 925 | |
dc.identifier.doi | http://dx.doi.org/10.1016/j.ajhg.2017.05.006 | |
dc.identifier.urn | URN:NBN:no-65865 | |
dc.type.document | Tidsskriftartikkel | en_US |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 0002-9297 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/63294/1/YY1haploinsufficiency%2Bsyndrome.pdf | |
dc.type.version | PublishedVersion | |