Harley, Margaret E., Murina, Olga ORCID: 0000-0003-1650-2892, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Goekhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah ORCID: 0000-0002-0077-0991, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sabbioneda, Simone ORCID: 0000-0001-8551-5465, Elcioglu, Nursel H., Altmueller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nuernberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S. and Jackson, Andrew P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nature Genet., 48 (1). S. 36 - 46. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

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Abstract

DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. We establish that TRAIP relocalizes to sites of DNA damage, where it is required for optimal phosphorylation of H2AX and RPA2 during S-phase in response to ultraviolet (UV) irradiation, as well as fork progression through UV-induced DNA lesions. TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. Human genetics thus identifies TRAIP as a component of the DNA damage response to replication-blocking DNA lesions.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Harley, Margaret E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Murina, OlgaUNSPECIFIEDorcid.org/0000-0003-1650-2892UNSPECIFIED
Leitch, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Higgs, Martin R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bicknell, Louise S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yigit, GoekhanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blackford, Andrew N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zlatanou, AnastasiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mackenzie, Karen J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reddy, KaalakUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Halachev, MihailUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McGlasson, SarahUNSPECIFIEDorcid.org/0000-0002-0077-0991UNSPECIFIED
Reijns, Martin A. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fluteau, AdelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, Carol-AnneUNSPECIFIEDorcid.org/0000-0001-5914-2757UNSPECIFIED
Sabbioneda, SimoneUNSPECIFIEDorcid.org/0000-0001-8551-5465UNSPECIFIED
Elcioglu, Nursel H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Greenhalgh, LynnUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chessa, LucianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maghnie, MohamadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Salim, MahmoudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bober, Michael B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jackson, Stephen P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hurles, Matthew E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wollnik, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stewart, Grant S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jackson, Andrew P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-293131
DOI: 10.1038/ng.3451
Journal or Publication Title: Nature Genet.
Volume: 48
Number: 1
Page Range: S. 36 - 46
Date: 2016
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 1546-1718
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
INTERACTING PROTEIN TRIP; ORIGIN RECOGNITION COMPLEX; GROWTH FAILURE; EMBRYONIC LETHALITY; POLYMERASE ETA; MUTATIONS; UBIQUITIN; REPAIR; HOMOZYGOSITY; DEGRADATIONMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/29313

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