Article
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nature genetics - 1 Apr 2017
Reynolds John J, Bicknell Louise S, Carroll Paula, Higgs Martin R, Shaheen Ranad, Murray Jennie E, Papadopoulos Dimitrios K, Leitch Andrea, Murina Olga, Tarnauskaitė Žygimantė, Wessel Sarah R, Zlatanou Anastasia, Vernet Audrey, von Kriegsheim Alex, Mottram Rachel M A, Logan Clare V, Bye Hannah, Li Yun, Brean Alexander, Maddirevula Sateesh, Challis Rachel C, Skouloudaki Kassiani, Almoisheer Agaadir, Alsaif Hessa S, Amar Ariella, Prescott Natalie J, Bober Michael B, Duker Angela, Faqeih Eissa, Seidahmed Mohammed Zain, Al Tala Saeed, Alswaid Abdulrahman, Ahmed Saleem, Al-Aama Jumana Yousuf, Altmüller Janine, Al Balwi Mohammed, Brady Angela F, Chessa Luciana, Cox Helen, Fischetto Rita, Heller Raoul, Henderson Bertram D, Hobson Emma, Nürnberg Peter, Percin E Ferda, Peron Angela, Spaccini Luigina, Quigley Alan J, Thakur Seema, Wise Carol A, Yoon Grace, Alnemer Maha, Tomancak Pavel, Yigit Gökhan, Taylor A Malcolm R, Reijns Martin A M, Simpson Michael A, Cortez David, Alkuraya Fowzan S, Mathew Christopher G, Jackson Andrew P, Stewart Grant S
Abstract excerpt
To ensure efficient genome duplication, cells have evolved numerous factors that promote unperturbed DNA replication and protect, repair and restart damaged forks. Here we identify downstream neighbor of SON (DONSON) as a novel fork protection factor and report biallelic DONSON mutations in 29 individuals with microcephalic dwarfism. We demonstrate that DONSON is a replisome component that stabilizes forks during...
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