DNA instability and human disease - PubMed (original) (raw)
Review
DNA instability and human disease
S E Andrew et al. Am J Pharmacogenomics. 2001.
Abstract
It is now well established that non-Mendelian examples of DNA instability are associated with human disease. Most malignancies are associated with various chromosomal instabilities, such as aneuploidy, gene amplification, and chromosomal deletion. Furthermore, widespread microsatellite instability (MSI) is associated with a variety of tumors, and instability at specific dynamic repeat expansions underlies a family of neurologic disorders. Inactivation of DNA mismatch repair genes results in genomic instabilities affecting microsatellite regions. Mutations in genes involved in DNA polymerization or Okazaki fragment processing are also associated with MSI. Such instabilities convey a 'mutator' phenotype which is pathogenic. The mechanisms controlling trinucleotide repeat expansions are less well understood. Why this type of genomic instability is particularly pathogenic to neurons is also not clear. An understanding of what normally maintains stability is the first step towards preventing such loss of control and maintaining health.
Similar articles
- Frequent chromosomal instability but no microsatellite instability in hepatocellular carcinomas.
Piao Z, Kim H, Malkhosyan S, Park C. Piao Z, et al. Int J Oncol. 2000 Sep;17(3):507-12. doi: 10.3892/ijo.17.3.507. Int J Oncol. 2000. PMID: 10938391 - Involvement of the multiple tumor suppressor genes and 12-lipoxygenase in human prostate cancer. Therapeutic implications.
Gao X, Porter AT, Honn KV. Gao X, et al. Adv Exp Med Biol. 1997;407:41-53. doi: 10.1007/978-1-4899-1813-0_7. Adv Exp Med Biol. 1997. PMID: 9321930 Review. - Chromosomal instability and p53 inactivation are required for genesis of glioblastoma but not for colorectal cancer in patients with germline mismatch repair gene mutation.
Leung SY, Yuen ST, Chan TL, Chan AS, Ho JW, Kwan K, Fan YW, Hung KN, Chung LP, Wyllie AH. Leung SY, et al. Oncogene. 2000 Aug 17;19(35):4079-83. doi: 10.1038/sj.onc.1203740. Oncogene. 2000. PMID: 10962567 - Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.
Woerner SM, Kloor M, Mueller A, Rueschoff J, Friedrichs N, Buettner R, Buzello M, Kienle P, Knaebel HP, Kunstmann E, Pagenstecher C, Schackert HK, Möslein G, Vogelsang H, von Knebel Doeberitz M, Gebert JF; German HNPCC Consortium. Woerner SM, et al. Oncogene. 2005 Apr 7;24(15):2525-35. doi: 10.1038/sj.onc.1208456. Oncogene. 2005. PMID: 15735733 - Progress on the mechanistic research of the trinucleotide repeat instabilities underlying human neurodegenerative diseases.
Lv KN, Pan XF. Lv KN, et al. Yi Chuan. 2021 Sep 20;43(9):835-848. doi: 10.16288/j.yczz.21-182. Yi Chuan. 2021. PMID: 34702697 Review.
Cited by
- Exploring DNA Damage and Repair Mechanisms: A Review with Computational Insights.
Chen J, Potlapalli R, Quan H, Chen L, Xie Y, Pouriyeh S, Sakib N, Liu L, Xie Y. Chen J, et al. BioTech (Basel). 2024 Jan 16;13(1):3. doi: 10.3390/biotech13010003. BioTech (Basel). 2024. PMID: 38247733 Free PMC article. Review. - Whole genome amplification of DNA from laser capture-microdissected tissue for high-throughput single nucleotide polymorphism and short tandem repeat genotyping.
Rook MS, Delach SM, Deyneko G, Worlock A, Wolfe JL. Rook MS, et al. Am J Pathol. 2004 Jan;164(1):23-33. doi: 10.1016/S0002-9440(10)63092-1. Am J Pathol. 2004. PMID: 14695315 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources