Kaull:ESA

This page is a collection area for literature on the evolutionary stability of DNA sequences.

Mutation Spectra

E. coli / Other Prokaryotes

Several studies have been done with the lacI repressor to determine its mutation spectrum. Roughly 70% of mutations in wt lacI occur as 4 bp additions/deletions at one site with significant self-pairing ability. Schaaper (1991) removed this hotspot by performing directed silent mutagenesis at two bases in this region; however, deletion activity was still strongly associated with other repeated sites in the gene. Single base-pair substitutions were also detected and seem to show a clustered pattern. The specifics of the pattern depend on the genetic background of the bacteria - it changes when various mutation repair pathways are tweaked - but might still be useful.

1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Schaaper RM, Danforth BN, and Glickman BW. Mechanisms of spontaneous mutagenesis: an analysis of the spectrum of spontaneous mutation in the Escherichia coli lacI gene. J Mol Biol. 1986 May 20;189(2):273-84. DOI:10.1016/0022-2836(86)90509-7 |
1. Schaaper RM and Dunn RL. Spontaneous mutation in the Escherichia coli lacI gene. Genetics. 1991 Oct;129(2):317-26. DOI:10.1093/genetics/129.2.317 |

Eukaryotes

There is some mutation spectrum work in eukaryotes, mostly done to help develop genetic testing for various human diseases. These data may be useful as test inputs. However, eukaryotes have different and more complicated error correction pathways.

1. Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, and Koo SK. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. Hum Mutat. 2006 Jun;27(6):599. DOI:10.1002/humu.9423 |
1. Glazko GV, Koonin EV, and Rogozin IB. Mutation hotspots in the p53 gene in tumors of different origin: correlation with evolutionary conservation and signs of positive selection. Biochim Biophys Acta. 2004 Aug 12;1679(2):95-106. DOI:10.1016/j.bbaexp.2004.05.004 |
1. Brusgaard K, Jordan P, Hansen H, Hansen AB, and Hørder M. Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. Clin Genet. 2006 Mar;69(3):277-83. DOI:10.1111/j.1399-0004.2006.00585.x |

References

1. Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, and Koo SK. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. Hum Mutat. 2006 Jun;27(6):599. DOI:10.1002/humu.9423 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Farabaugh PJ, Schmeissner U, Hofer M, and Miller JH. Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. J Mol Biol. 1978 Dec 25;126(4):847-57. DOI:10.1016/0022-2836(78)90023-2 |
1. Schaaper RM, Danforth BN, and Glickman BW. Mechanisms of spontaneous mutagenesis: an analysis of the spectrum of spontaneous mutation in the Escherichia coli lacI gene. J Mol Biol. 1986 May 20;189(2):273-84. DOI:10.1016/0022-2836(86)90509-7 |
1. Glazko GV, Koonin EV, and Rogozin IB. Mutation hotspots in the p53 gene in tumors of different origin: correlation with evolutionary conservation and signs of positive selection. Biochim Biophys Acta. 2004 Aug 12;1679(2):95-106. DOI:10.1016/j.bbaexp.2004.05.004 |
1. You L, Cox RS 3rd, Weiss R, and Arnold FH. Programmed population control by cell-cell communication and regulated killing. Nature. 2004 Apr 22;428(6985):868-71. DOI:10.1038/nature02491 |
1. Schaaper RM and Dunn RL. Spontaneous mutation in the Escherichia coli lacI gene. Genetics. 1991 Oct;129(2):317-26. DOI:10.1093/genetics/129.2.317 |
1. Brusgaard K, Jordan P, Hansen H, Hansen AB, and Hørder M. Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. Clin Genet. 2006 Mar;69(3):277-83. DOI:10.1111/j.1399-0004.2006.00585.x |