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Glossary Term
A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
Glossary Term
A deletion that results in the loss of a DNA segment encompassing an entire gene sequence.
Glossary Term
Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer.
Glossary Term
Nonfunctional DNA sequences that are very similar to the sequences of known genes. Many seem to have arisen as functional gene duplications that subsequently underwent mutation and loss of function. Others are structurally similar to mRNA and seem to have arisen by a reverse transcription event followed by integration into the genome. Some pseudogenes are transcribed and may play a role in regulation of its homologous gene.
