Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

• Published in: Nature genetics Vol. 44; no. 4; pp. 390 - 397
• Main Authors: Chiang, Colby, Jacobsen, Jessie C, Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E, Kirby, Andrew, Lindgren, Amelia M, Rudiger, Skye R, McLaughlan, Clive J, Bawden, C Simon, Reid, Suzanne J, Faull, Richard L M, Snell, Russell G, Hall, Ira M, Shen, Yiping, Ohsumi, Toshiro K, Borowsky, Mark L, Daly, Mark J, Lee, Charles, Morton, Cynthia C, MacDonald, Marcy E, Gusella, James F, Talkowski, Michael E
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.04.2012; Nature Publishing Group
• Subjects: 631/208/2489/144; 631/208/69; Agriculture; Animal genetic engineering; Animal Genetics and Genomics; Animals; Animals, Genetically Modified; Autism; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer; Cancer Research; Chromosome Breakage; Chromosome Inversion; Chromosomes; DNA; DNA End-Joining Repair - genetics; Experiments; Fundamental and applied biological sciences. Psychology; Gene Function; Gene Rearrangement; Genetic research; Genetically modified animals; Genetics of eukaryotes. Biological and molecular evolution; Genomes; Genomics; Germ-Line Mutation; Hospitals; Human Genetics; Humans; Medical research; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Mutagenesis. Repair; Neoplasms - genetics; Oligonucleotide Array Sequence Analysis; Physiological aspects; Sequence Analysis, DNA; Translocation, Genetic; Australia; United States; Repair; Germ line

Michael Talkowski and colleagues examine karyotypically balanced genomic rearrangement landscapes in the germline at single-nucleotide resolution. They find predominant roles for complex reorganization and non-homologous repair in such 'chromothripsis' processes, suggesting a mechanism of...