doi: 10.1016/0014-5793(96)01075-7.
Sequence specificity in CpG mutation hotspots
Affiliations
- PMID: 8914970
- DOI: 10.1016/0014-5793(96)01075-7
Item in Clipboard
Sequence specificity in CpG mutation hotspots
FEBS Lett.
.
Free article
Abstract
CpG dinucleotides are efficiently methylated in vertebrate genomes except in the CpG islands having a high C+G content. Methylated CpGs are the single most mutated dinucleotide. Sequences surrounding disease causing CpG mutation sites were analyzed from locus-specific mutation databases. Both tetra- and heptanucleotide analyses indicated clear overall sequence preference for having pyrimidines 5' and purines 3' to the mutated 5-methylcytosine. The most mutated tetranucleotides are TCGA and TCGG, the former being also a frequent restriction and modification site. The results will help in elucidating the still controversial mutation mechanism of CpG doublets.
Similar articles
-
CpG dinucleotides are mutation hot spots in phenylketonuria.Genomics. 1989 Nov;5(4):936-9. doi: 10.1016/0888-7543(89)90137-7. Genomics. 1989. PMID: 2574153
-
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).Nucleic Acids Res. 1997 Jan 1;25(1):166-71. doi: 10.1093/nar/25.1.166. Nucleic Acids Res. 1997. PMID: 9016530 Free PMC article.
-
CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene.Hum Genet. 1992 Sep-Oct;90(1-2):147-8. doi: 10.1007/BF00210760. Hum Genet. 1992. PMID: 1358783
-
BTKbase: a database of XLA-causing mutations. International Study Group.Immunol Today. 1995 Oct;16(10):460-5. doi: 10.1016/0167-5699(95)80027-1. Immunol Today. 1995. PMID: 7576047 Review. No abstract available.
-
X-linked agammaglobulinemia and other immunoglobulin deficiencies.Immunol Rev. 1994 Apr;138:159-83. doi: 10.1111/j.1600-065x.1994.tb00851.x. Immunol Rev. 1994. PMID: 8070814 Review. No abstract available.
Cited by
-
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.Genome Res. 2005 Jul;15(7):967-77. doi: 10.1101/gr.3313405. Genome Res. 2005. PMID: 15998910 Free PMC article.
-
DNA mutation motifs in the genes associated with inherited diseases.PLoS One. 2017 Aug 2;12(8):e0182377. doi: 10.1371/journal.pone.0182377. eCollection 2017. PLoS One. 2017. PMID: 28767725 Free PMC article.
-
KinMutBase, a database of human disease-causing protein kinase mutations.Nucleic Acids Res. 2000 Jan 1;28(1):369-71. doi: 10.1093/nar/28.1.369. Nucleic Acids Res. 2000. PMID: 10592276 Free PMC article.
-
Spectrum of disease-causing mutations in protein secondary structures.BMC Struct Biol. 2007 Aug 29;7:56. doi: 10.1186/1472-6807-7-56. BMC Struct Biol. 2007. PMID: 17727703 Free PMC article.
-
How Well Does Evolution Explain Endogenous Retroviruses?-A Lakatosian Assessment.Viruses. 2021 Dec 22;14(1):14. doi: 10.3390/v14010014. Viruses. 2021. PMID: 35062218 Free PMC article. Review.
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
- Actions
- Actions
LinkOut - more resources
Full Text Sources
