Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

John J Reynolds,Louise S Bicknell,Paula Carroll,Martin R Higgs,Ranad Shaheen,Jennie E Murray,Dimitrios K Papadopoulos,Andrea Leitch,Olga Murina,Žygimantė Tarnauskaitė,Sarah R Wessel,Anastasia Zlatanou,Audrey Vernet,Alex von Kriegsheim,Rachel M A Mottram,Clare V Logan,Hannah Bye,Yun Li,Alexander Brean,Sateesh Maddirevula,Rachel C Challis,Kassiani Skouloudaki,Agaadir Almoisheer,Hessa S Alsaif, Ariella Amar,Natalie J Prescott,Michael B Bober,Angela Duker,Eissa Faqeih,Mohammed Zain Seidahmed,Saeed Al Tala,Abdulrahman Alswaid,Saleem Ahmed,Jumana Yousuf Al-Aama,Janine Altmüller,Mohammed Al Balwi,Angela F Brady,Luciana Chessa,Helen Cox,Rita Fischetto,Raoul Heller, Bertram D Henderson,Emma Hobson,Peter Nürnberg,E Ferda Percin,Angela Peron,Luigina Spaccini,Alan J Quigley,Seema Thakur,Carol A Wise,Grace Yoon,Maha Alnemer,Pavel Tomancak,Gökhan Yigit,A Malcolm R Taylor,Martin A M Reijns,Michael A Simpson,David Cortez,Fowzan S Alkuraya,Christopher G Mathew,Andrew P Jackson,Grant S Stewart

NATURE GENETICS（2017）

引用 75|浏览17

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摘要

Grant Stewart, Andrew Jackson, Christopher Mathew, Fowzan Alkuraya and colleagues identify a novel replication fork protein, DONSON, which is important for maintaining genome stability. Mutations in DONSON cause microcephalic dwarfism and lead to stalled replication forks and DNA damage.

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关键词

Cell biology,Neurodevelopmental disorders,Neurodevelopmental disorders

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