Article
A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.
Molecular cell - 6 Aug 2015
Wang Anderson T, Kim Taeho, Wagner John E, Conti Brooke A, Lach Francis P, Huang Athena L, Molina Henrik, Sanborn Erica M, Zierhut Heather, Cornes Belinda K, Abhyankar Avinash, Sougnez Carrie, Gabriel Stacey B, Auerbach Arleen D, Kowalczykowski Stephen C, Smogorzewska Agata
Abstract excerpt
Repair of DNA interstrand crosslinks requires action of multiple DNA repair pathways, including homologous recombination. Here, we report a de novo heterozygous T131P mutation in RAD51/FANCR, the key recombinase essential for homologous recombination, in a patient with Fanconi anemia-like phenotype. In vitro, RAD51-T131P displays DNA-independent ATPase activity, no DNA pairing capacity, and a co-dominant-negative...
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