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Arabidopsis thaliana: A Unique and Powerful Model for Genomic Mutation Accumulation and Chromothripsis
Author(s) -
Fernandes Nancy Lynn,
Singh Subha
Publication year - 2016
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.30.1_supplement.576.5
Subject(s) - genome instability , biology , multicellular organism , genome , genetics , mutation , chromothripsis , dna damage , arabidopsis thaliana , gene , point mutation , suppressor mutation , dna repair , genomic dna , arabidopsis , computational biology , dna , mutant
The objective of this study is to increase our understanding of mutation accumulation in multicellular genomes with deficiencies in the DNA damage response regulators employing the model organism Arabidopsis thaliana . We compare and quantify genomic mutations between wild‐type cells and cells defective in global regulator ATR of the DNA damage response mechanism. We have established mutation accumulation (MA) lines for whole genome mutation analysis. Assembly and analysis of the MA line genomes show a spectrum of genome rearrangements as compared to point mutations. Defects in ATR and related repair pathways generate a unique spectrum of mutational events that can be used to predict similar genomic deficiencies in other organisms. A combination of bioinformatics, genomic analysis and a model organism that tolerates mutation accumulation of DNA damage response genes sheds light on how global regulators of the DNA damage response affect overall genomic stability and how defects in these genes contribute to genomic instability. Understanding how global regulators of the DNA damage response affect genomic stability in healthy human cells and how defects in these genes contribute to genomic instability seen in cancer cells requires the knowledge of how and why specific mutation occurs. This study bridges a critical gap in knowledge, how genomes of multicellular organisms respond to genome instability when essential genes involved in the DNA repair pathway are mutated. Support or Funding Information National Science Foundation