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Plos Biology : a Genome-scale Dna Repair Rnai Screen Identifies Spg48 as a Novel Gene Associated with Hereditary Spastic Paraplegia, Volume 8

By Hastie, Nicholas

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Book Id: WPLBN0003940743
Format Type: PDF eBook :
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Reproduction Date: 2015

Title: Plos Biology : a Genome-scale Dna Repair Rnai Screen Identifies Spg48 as a Novel Gene Associated with Hereditary Spastic Paraplegia, Volume 8  
Author: Hastie, Nicholas
Volume: Volume 8
Language: English
Subject: Journals, Science, Biology
Collections: Periodicals: Journal and Magazine Collection, PLoS Biology
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Publication Date:
Publisher: Plos

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Hastie, N. (n.d.). Plos Biology : a Genome-scale Dna Repair Rnai Screen Identifies Spg48 as a Novel Gene Associated with Hereditary Spastic Paraplegia, Volume 8. Retrieved from http://netlibrary.net/


Description
Description : 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 (HRDSBR) 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 (esiRNA) 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 HRDSBR 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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