Faulty DNA replication can cause 'chromosome catastrophes' — extensive chromosomal rearrangements that can lead to genomic disorders if the catastrophe affects reproductive cells or hits during embryonic development.
James Lupski at Baylor College of Medicine in Houston, Texas, and his colleagues found single chromosomes (pictured) with multiple alterations, such as deletions, inversions, duplications, triplications and translocations, in 17 people with developmental delay and cognitive abnormalities. The DNA sequence around the chromosome breakpoints where the changes occurred revealed hallmarks of DNA replication gone wrong.
The authors say that similar chromosome-breakpoint features show up in the DNA of the 2–3% of human cancers that are characterized by multiple chromosomal changes, suggesting that the same mechanism might also underlie another type of chromosomal catastrophe, called chromothripsis, which can cause cancer.
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DNA replication catastrophe. Nature 477, 513 (2011). https://doi.org/10.1038/477513b
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DOI: https://doi.org/10.1038/477513b
