De novo mutation

A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected individual but absent from both biological parents' genomes. These mutations can occur in any cell of the offspring, but those in the germ line (eggs or sperm) can be passed on to the next generation.[1]

In most cases, such a mutation has little or no effect on the affected organism due to the redundancy and robustness of the genetic code. However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most commonly involve de novo mutations include cri-du-chat syndrome, 1p36 deletion syndrome, genetic cancer syndromes, and certain forms of autism, among others.[2]

  1. ^ Veltman, Joris A.; Brunner, Han G. (2012). "De novo mutations in human genetic disease". Nature Reviews Genetics. 13 (8): 565–575. doi:10.1038/nrg3241. PMC 4110909. PMID 22777127.
  2. ^ Sanders, Stephan J.; Ercan-Sencicek, Gunes A.; Hus, Varun; Willsey, A. Jeremy; Murtha, Michael T.; Moreno-De-Luca, Daniela; Cho, Judy; Shi, Yunjia (2011). "Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism". Neuron. 70 (5): 863–885. doi:10.1016/j.neuron.2011.05.002. PMC 3939065. PMID 21658581.

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