西亚试剂：A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a

发布时间：2025-12-19

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia
Miko?aj S?abicki1, Mirko Theis1, Dragomir B. Krastev1, Sergey Samsonov2, Emeline Mundwiller3,4,5, Magno Junqueira1, Maciej Paszkowski-Rogacz1, Joan Teyra2, Anne-Kristin Heninger1, Ina Poser1, Fabienne Prieur6, Jérémy Truchetto3,4,5, Christian Confavreux7, Cécilia Marelli3,4,5,8, Alexandra Durr3,4,5,8, Jean Philippe Camdessanche6, Alexis Brice3,4,5,8, Andrej Shevchenko1, M. Teresa Pisabarro2, Giovanni Stevanin3,4,5,8, Frank Buchholz1*

1 Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany, 2 Structural Bioinformatics, BIOTEC TU, Dresden, Germany, 3 INSERM, Unit 975 Paris, France, 4 Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Paris, France, 5 CNRS, Unité Mixte de Recherche 7225 Paris, France, 6 H?pital Nord, Saint Etienne, France, 7 H?pital Neurologique, Lyon, France, 8 APHP, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics, Paris, France

DNA repair is essential to maintain genome integrity, and genes with roles in DNA repair are frequently mutated in a variety of human diseases. Repair via homologous recombination typically restores the original DNA sequence without introducing mutations, and a number of genes that are required for homologous recombination DNA double-strand break repair (HR-DSBR) have been identified. However, a systematic analysis of this important DNA repair pathway in mammalian cells has not been reported. Here, we describe a genome-scale endoribonuclease-prepared short interfering RNA (e screen for genes involved in DNA double strand break repair. We report 61 genes that influenced the frequency of HR-DSBR and characterize in detail one of the genes that decreased the frequency of HR-DSBR. We show that the gene KIAA0415 encodes a putative helicase that interacts with SPG11 and SPG15, two proteins mutated in hereditary spastic paraplegia (HSP). We identify mutations in HSP patients, discovering KIAA0415/SPG48 as a novel HSP-associated gene, and show that a KIAA0415/SPG48 mutant cell line is more sensitive to DNA damaging drugs. We present the first genome-scale survey of HR-DSBR in mammalian cells providing a dataset that should accelerate the discovery of novel genes with roles in DNA repair and associated medical conditions. The discovery that proteins forming a novel protein complex are required for efficient HR-DSBR and are mutated in patients suffering from HSP suggests a link between HSP and DNA repair.

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