High frequency of mutations within the genome of a cellular lineage
Genome instability (also genetic instability or genomic instability) refers to a high frequency of mutations within the genome of a cellular lineage. These mutations can include changes in nucleic acid sequences, chromosomal rearrangements or aneuploidy. Genome instability does occur in bacteria.[1] In multicellular organisms genome instability is central to carcinogenesis,[2] and in humans it is also a factor in some neurodegenerative diseases such as amyotrophic lateral sclerosis or the neuromuscular disease myotonic dystrophy.
The sources of genome instability have only recently begun to be elucidated. A high frequency of externally caused DNA damage[3] can be one source of genome instability since DNA damage can cause inaccurate translesion DNA synthesis past the damage or errors in repair, leading to mutation. Another source of genome instability may be epigenetic or mutational reductions in expression of DNA repair genes. Because endogenous (metabolically-caused) DNA damage is very frequent, occurring on average more than 60,000 times a day in the genomes of human cells, any reduced DNA repair is likely an important source of genome instability.
^Schmitt, MW; Prindle, MJ; Loeb, LA (2012). "Implications of genetic heterogeneity in cancer". Ann N Y Acad Sci. 1267 (1): 110–116. Bibcode:2012NYASA1267..110S. doi:10.1111/j.1749-6632.2012.06590.x. PMC 3674777. PMID 22954224.
^Møller, P (2005). "Genotoxicity of environmental agents assessed by the alkaline comet assay". Basic Clin Pharmacol Toxicol. 96 (Suppl 1): 1–42. PMID 15859009.
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Genomeinstability (also genetic instability or genomic instability) refers to a high frequency of mutations within the genome of a cellular lineage. These...
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pair with each other). These properties play an important role in genomeinstability and contribute not only to cellular evolution and genetic diversity...
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Dzhokhadze, TA; Buadze, TZh; Rubanov, KD; Kiriia, NA; Lezhava, TA (2013). "Genomeinstability in pulmonary tuberculosis before and after treatment". Georgian Med...
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Unger, Ron; Michaeli, Shulamit; Späth, Gerald F. (21 December 2021). "Genomeinstability drives epistatic adaptation in the human pathogen Leishmania". Proceedings...
expression of SMC1B can cause DNA damage repair to fail that then causes genomeinstability. Expression of SMC1B higher or lower than normal is associated with...
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combustion Breakage-Fusion-Bridge, a biological process inducing genomeinstability Search for "BFB" on Wikipedia. All pages with titles beginning with...
developmental processes. PRC-mediated epigenetic aberrations are linked to genomeinstability and malignancy and play a role in the DNA damage response, DNA repair...
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