Mutagenesis

Definition

Mutagenesis is the process of generating a genetic mutation. This may occur spontaneously or be induced by mutagens. Researchers also use a number of techniques to create mutations, including transposon mutagenesis to generate random gene knockouts, and site-directed mutagenesis, which utilises the polymerase chain reaction to introduce specific mutations.

Latest Research and Reviews

  • Research |

    Alex Kentsis and colleagues identify somatic genomic rearrangements in primary human rhabdoid tumors characterized by deletions and inversions involving PGBD5-specific signal sequences at their breakpoints. They further show that ectopic expression of PGBD5 in primary immortalized human cells is sufficient to promote cell transformation in vitro and in immunodeficient mice in vivo, thus defining PGBD5 as an oncogenic mutator and providing a plausible mechanism for site-specific DNA rearrangements in solid tumors.

    • Anton G Henssen
    • , Richard Koche
    • , Jiali Zhuang
    • , Eileen Jiang
    • , Casie Reed
    • , Amy Eisenberg
    • , Eric Still
    • , Ian C MacArthur
    • , Elias Rodríguez-Fos
    • , Santiago Gonzalez
    • , Montserrat Puiggròs
    • , Andrew N Blackford
    • , Christopher E Mason
    • , Elisa de Stanchina
    • , Mithat Gönen
    • , Anne-Katrin Emde
    • , Minita Shah
    • , Kanika Arora
    • , Catherine Reeves
    • , Nicholas D Socci
    • , Elizabeth Perlman
    • , Cristina R Antonescu
    • , Charles W M Roberts
    • , Hanno Steen
    • , Elizabeth Mullen
    • , Stephen P Jackson
    • , David Torrents
    • , Zhiping Weng
    • , Scott A Armstrong
    •  & Alex Kentsis
  • Research | | open

    CRISPR-Cas9 screens are powerful high-throughput tools but can be confounded by nuclease toxicity. Here the authors design a library of variable length gRNAs with thousands of negative controls, including the targeting of ‘safe’ loci to account for on-target site DNA damage toxicity.

    • David W. Morgens
    • , Michael Wainberg
    • , Evan A. Boyle
    • , Oana Ursu
    • , Carlos L. Araya
    • , C. Kimberly Tsui
    • , Michael S. Haney
    • , Gaelen T. Hess
    • , Kyuho Han
    • , Edwin E. Jeng
    • , Amy Li
    • , Michael P. Snyder
    • , William J. Greenleaf
    • , Anshul Kundaje
    •  & Michael C. Bassik
  • Research |

    Stuart Orkin, Daniel Bauer and colleagues present DNA Striker, a computational tool to design variant-aware saturating-mutagenesis screens with multiple CRISPR-associated nucleases. They apply their methodology to the HBS1L-MYB intergenic region, which is associated with red-blood-cell traits, and identify putative regulatory elements that control MYB expression.

    • Matthew C Canver
    • , Samuel Lessard
    • , Luca Pinello
    • , Yuxuan Wu
    • , Yann Ilboudo
    • , Emily N Stern
    • , Austen J Needleman
    • , Frédéric Galactéros
    • , Carlo Brugnara
    • , Abdullah Kutlar
    • , Colin McKenzie
    • , Marvin Reid
    • , Diane D Chen
    • , Partha Pratim Das
    • , Mitchel A Cole
    • , Jing Zeng
    • , Ryo Kurita
    • , Yukio Nakamura
    • , Guo-Cheng Yuan
    • , Guillaume Lettre
    • , Daniel E Bauer
    •  & Stuart H Orkin
    Nature Genetics 49, 625–634
  • Protocols |

    This protocol provides a pipeline for increasing and evaluating the efficiency of genome editing by ZFNs, TALENs or CRISPR–Cas9 that includes enrichment of nuclease-expressing cells by FACS, followed by Indel Detection by Amplicon Analysis (IDAA).

    • Lindsey A Lonowski
    • , Yoshiki Narimatsu
    • , Anjum Riaz
    • , Catherine E Delay
    • , Zhang Yang
    • , Francesco Niola
    • , Katarzyna Duda
    • , Elke A Ober
    • , Henrik Clausen
    • , Hans H Wandall
    • , Steen H Hansen
    • , Eric P Bennett
    •  & Morten Frödin
    Nature Protocols 12, 581–603

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