M
Mark O'Driscoll
Researcher at University of Sussex
Publications - 74
Citations - 7909
Mark O'Driscoll is an academic researcher from University of Sussex. The author has contributed to research in topics: DNA repair & DNA damage. The author has an hindex of 39, co-authored 72 publications receiving 7385 citations. Previous affiliations of Mark O'Driscoll include University of Cambridge & University of Ottawa.
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Journal ArticleDOI
ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation.
TL;DR: It is shown that under most normal growth conditions, IR-induced H2AX phosphorylation can be carried out by ATM and DNA-PK in a redundant, overlapping manner.
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A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome
TL;DR: This analysis shows that UV-induced ATR activation can occur in non-replicating cells following processing by nucleotide excision repair, and identifies a synonymous mutation in affected individuals that alters ATR splicing.
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean Baptiste Rivière,Ghayda M. Mirzaa,Brian J. O'Roak,Margaret Beddaoui,Diana Alcantara,Robert L. Conway,Judith St-Onge,Jeremy Schwartzentruber,Karen W. Gripp,Sarah M. Nikkel,Thea Worthylake,Christopher T. Sullivan,Thomas R. Ward,Hailly Butler,Nancy Kramer,Beate Albrecht,Christine M. Armour,Linlea Armstrong,Oana Caluseriu,Cheryl Cytrynbaum,Beth A. Drolet,A. Micheil Innes,Julie Lauzon,Angela E. Lin,Grazia M.S. Mancini,Wendy S. Meschino,James D. Reggin,Anand Saggar,Tally Lerman-Sagie,Gã Khan Uyanik,Rosanna Weksberg,Birgit Zirn,Chandree L. Beaulieu,Jacek Majewski,Dennis E. Bulman,Mark O'Driscoll,Jay Shendure,John M. Graham,Kym M. Boycott,William B. Dobyns +39 more
TL;DR: Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development.
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The role of double-strand break repair - insights from human genetics
Mark O'Driscoll,Penny A. Jeggo +1 more
TL;DR: Understanding of the molecular basis that underlies the diverse clinical features of human disorders with pleiotropic clinical features is enhancing the understanding of the damage-response mechanisms and their role in development, and might ultimately facilitate treatment.
Journal ArticleDOI
DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency
Mark O'Driscoll,Karen M. Cerosaletti,Pierre M. Girard,Yan Dai,Markus Stumm,Boris Kysela,Betsy A. Hirsch,Andrew R. Gennery,Susan E. Palmer,J. Seidel,Richard A. Gatti,Raymonda Varon,Marjorie A. Oettinger,Heidemarie Neitzel,Penny A. Jeggo,Patrick Concannon +15 more
TL;DR: Four patients with features including immunodeficiency and developmental and growth delay were found to have mutations in the gene encoding DNA ligase IV (LIG4), and their clinical phenotype closely resembles the DNA damage response disorder, Nijmegen breakage syndrome.