Biopolym. Cell. 2007; 23(3):215-242.
Mutations: what are they?
- Institute of Molecular Biology and Genetics, NAS of Ukraine
150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680
Abstract
The conceptions of mutations are analyzed. The literature data that are not consistent with the existent ideas about mutations are presented. The statement about physiological ambiguity of mutations and their biological role is formulated, according to which the mutations in soma perform a regulatory role, therefore, they are a normal component of biological processes, controlled by an organism. Once uncontrolled, mutations in soma lead to oncogenesis. As for a germ route, mutations provide the elimination of their carriers through cascade integral processes, thus realizing the function of purification. Being out of control and not resulting in elimination of their carriers, the mutations are realized into the whole range of hereditary pathologies – from a latency form («mutational load») to a bright manifestation.
Keywords: mutations, regulation, soma, germ route
Full text: (PDF, in English) (PDF, in Russian)
References
[1]
Gershenson SM. Fundamentals of modern genetics. Kiev: Naukova Dumka. 1979. 508 p.
[2]
Mohrenweiser HW, Jones IM. Review of the molecular characteristics of gene mutations of the germline and somatic cells of the human. Mutat Res. 1990;231(1):87-108.
[3]
Drake JW. Mutation: major evolutionary trends. 18th Symp. Nucl. Acids Chem. (Sendai, Oct. 29-31, 1991). Oxford etc., 1991: 159-60.
[4]
Ono T, Uehara Y, Saito Y, Ikehata H. Mutation theory of aging, assessed in transgenic mice and knockout mice. Mech Ageing Dev. 2002;123(12):1543-52.
[5]
Slozina NM, Neronova EG. Chromosome anormalies of human gametes and intrauterine selection studies of female gametes. Tsitol Genet. 1992; 26(6):58-63.
[6]
Morley AA, Turner DR. The contribution of exogenous and endogenous mutagens to in vivo mutations. Mutat Res. 1999;428(1-2):11-5.
[7]
Shastry BS. SNP alleles in human disease and evolution. J Hum Genet. 2002;47(11):561-6.
[8]
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D; International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001;409(6822):928-33.
[9]
Rosen EM, Fan S, Pestell RG, Goldberg ID. BRCA1 gene in breast cancer. J Cell Physiol. 2003;196(1):19-41.
[10]
Hasin Y, Avidan N, Bercovich D, Korczyn A, Silman I, Beckmann JS, Sussman JL. A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene. Hum Mutat. 2004;24(5):408-16.
[11]
Pagani F, Raponi M, Baralle FE. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A. 2005;102(18):6368-72.
[12]
Khatypova MA, Buff EM, Mogila VA, Nabirochkin SD, Simonova OB, Gerasimova TI. Induction of mutants in the process of genetic crosses. Genetika. 1992;28(3):56-7.
[13]
Friso S, Choi SW, Girelli D, Mason JB, Dolnikowski GG, Bagley PJ, Olivieri O, Jacques PF, Rosenberg IH, Corrocher R, Selhub J. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci U S A. 2002;99(8):5606-11.
[14]
Sadler TV. Medical Embryology by Langman. L'viv: Nautilus, 2002. 550 p.
[15]
Mishin VP, Bognarev VV, Churyukanov VV. Oxigen. Great Med encyclopedia. M.: Sov. encyclopedia, 1979; vol 10:325-6.
[16]
Fraga CG, Shigenaga MK, Park JW, Degan P, Ames BN. Oxidative damage to DNA during aging: 8-hydroxy-2'-deoxyguanosine in rat organ DNA and urine. Proc Natl Acad Sci U S A. 1990;87(12):4533-7.
[17]
Kordium VA. Our «Shagreen leather» is our problem. We have to solve it ourselves. Kyiv: Logos, 2006; 264 p.
[18]
Hamilton ML, Van Remmen H, Drake JA, Yang H, Guo ZM, Kewitt K, Walter CA, Richardson A. Does oxidative damage to DNA increase with age? Proc Natl Acad Sci U S A. 2001;98(18):10469-74.
[19]
Richter C, Park JW, Ames BN. Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc Natl Acad Sci U S A. 1988;85(17):6465-7.
[20]
Loeb LA, Cheng KC. Errors in DNA synthesis: a source of spontaneous mutations. Mutat Res. 1990;238(3):297-304.
[21]
Frosina G. Overexpression of enzymes that repair endogenous damage to DNA. Eur J Biochem. 2000;267(8):2135-49.
[22]
Lu T, Pan Y, Kao SY, Li C, Kohane I, Chan J, Yankner BA. Gene regulation and DNA damage in the ageing human brain. Nature. 2004;429(6994):883-91.
[23]
Doll? ME, Snyder WK, Dunson DB, Vijg J. Mutational fingerprints of aging. Nucleic Acids Res. 2002;30(2):545-9.
[24]
Vijg J, Doll? ME. Large genome rearrangements as a primary cause of aging. Mech Ageing Dev. 2002;123(8):907-15.
[25]
Khil PP, Camerini-Otero RD. Over 1000 genes are involved in the DNA damage response of Escherichia coli. Mol Microbiol. 2002;44(1):89-105.
[26]
Jahn CL, Klobutcher LA. Genome remodeling in ciliated protozoa. Annu Rev Microbiol. 2002;56:489-520.
[27]
Yan B, Wang H, Peng Y, Hu Y, Wang H, Zhang X, Chen Q, Bedford JS, Dewhirst MW, Li CY. A unique role of the DNA fragmentation factor in maintaining genomic stability. Proc Natl Acad Sci U S A. 2006;103(5):1504-9.
[28]
Nevzorova TA, Vinter VG. Investigation of DNA hydrolyzing activity of antibodies to DNA. Uchenye Zapiski Kazan Gos Univ. 2005; vol 147 Pt 2:136-48.
[30]
Cairns J, Foster PL. Adaptive reversion of a frameshift mutation in Escherichia coli. Genetics. 1991;128(4):695-701.
[31]
Slechta ES, Harold J, Andersson DI, Roth JR. The effect of genomic position on reversion of a lac frameshift mutation (lacIZ33) during non-lethal selection (adaptive mutation). Mol Microbiol. 2002;44(4):1017-32.
[32]
Metzgar D, Bytof J, Wills C. Selection against frameshift mutations limits microsatellite expansion in coding DNA. Genome Res. 2000;10(1):72-80.
[33]
Zufall RA, Robinson T, Katz LA. Evolution of developmentally regulated genome rearrangements in eukaryotes. J Exp Zool B Mol Dev Evol. 2005;304(5):448-55.
[34]
Zhang Q, Wise KS. Localized reversible frameshift mutation in an adhesin gene confers a phase-variable adherence phenotype in mycoplasma. Mol Microbiol. 1997;25(5):859-69.
[35]
Theiss P, Wise KS. Localized frameshift mutation generates selective, high-frequency phase variation of a surface lipoprotein encoded by a mycoplasma ABC transporter operon. J Bacteriol. 1997;179(12):4013-22.
[36]
Matsui K, Yamada M, Imai M, Yamamoto K, Nohmi T. Specificity of replicative and SOS-inducible DNA polymerases in frameshift mutagenesis: Mutability of Salmonella typhimurium strains overexpressing SOS-inducible DNA polymerases to 30 chemical mutagens. DNA Repair. 2006;5(4):465–78.
[37]
Hendrick JL, Wilson PG, Edelman II, Sandbaken MG, Ursic D, Culbertson MR. Yeast frameshift suppressor mutations in the genes coding for transcription factor Mbf1p and ribosomal protein S3: evidence for autoregulation of S3 synthesis. Genetics. 2001;157(3):1141-58.
[38]
Harfe BD, Jinks-Robertson S. Sequence composition and context effects on the generation and repair of frameshift intermediates in mononucleotide runs in Saccharomyces cerevisiae. Genetics. 2000;156(2):571-8.
[39]
Bahar R, Hartmann CH, Rodriguez KA, Denny AD, Busuttil RA, Doll? ME, Calder RB, Chisholm GB, Pollock BH, Klein CA, Vijg J. Increased cell-to-cell variation in gene expression in ageing mouse heart. Nature. 2006;441(7096):1011-4.
[40]
Kijas JM, Moller M, Plastow G, Andersson L. A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs. Genetics. 2001;158(2):779-85.
[41]
Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, Ballestar ML, Heine-Su-er D, Cigudosa JC, Urioste M, Benitez J, Boix-Chornet M, Sanchez-Aguilera A, Ling C, Carlsson E, Poulsen P, Vaag A, Stephan Z, Spector TD, Wu YZ, Plass C, Esteller M. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A. 2005;102(30):10604-9.
[42]
Zenzes MT, Casper RF. Cytogenetics of human oocytes, zygotes, and embryos after in vitro fertilization. Hum Genet. 1992;88(4):367-75.
[43]
Templado C, Benet J, Genesc? A, Navarro J, Caballin MR, Mir? R, Egozcue J. Human sperm chromosomes. Hum Reprod. 1988;3(2):133-8.
[44]
Pellestor F, Jel B. ?tude cytogenetique du sperme humain. Med Sci Paris. 1989. 5(4): 244-51.
[45]
Benkhalifa M, Malet P, Menezo Y, Janny L, Boucher D. Cytogenetic analysis of human gametes to embryos: Abstr. 6 Int. Conf. Early Prenat. Diagn. Genet. Diseases from Gametes to Embryo. Prenat. Diagn. 1992. 12, Suppl: 50.
[46]
Tepperman J, Tepperman HM. Metabolic and endocrine physiology: an introductory text. Year Book Medical Publishers, 1987 369 p.
[47]
Filchenkov OO, Stoika RS. Apoptosis and cancer. Ternopil: Ukrmedknyha, 2006. 523 p.
[48]
Swergold GD. Identification, characterization, and cell specificity of a human LINE-1 promoter. Mol Cell Biol. 1990;10(12):6718-29.
[49]
Mathias SL, Scott AF, Kazazian HH Jr, Boeke JD, Gabriel A. Reverse transcriptase encoded by a human transposable element. Science. 1991;254(5039):1808-10.
[50]
Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH Jr, Antonarakis SE. Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements. Genomics. 1989;4(3):290-6.
[51]
Haugen P, Bhattacharya D. The spread of LAGLIDADG homing endonuclease genes in rDNA. Nucleic Acids Res. 2004;32(6):2049-57.
[52]
Pittoggi C, Sciamanna I, Mattei E, Beraldi R, Lobascio AM, Mai A, Quaglia MG, Lorenzini R, Spadafora C. Role of endogenous reverse transcriptase in murine early embryo development. Mol Reprod Dev. 2003;66(3):225-36.
