Biopolym. Cell. 2007; 23(3):188-201.
Природа та походження успадкованих
мутацій у тандемно повторюваних
ділянках геному людини
- Інститут молекулярної біології і генетики НАН України
Вул. Академіка Заболотного, 150, Київ, Україна, 03680
Abstract
Проаналізовано літературні та власні дані дослідження природи та походження успадкованих мутацій у гіперваріабельних мінісателітних та мікросателітних локусах геному людини. Розглянуто можливі механізми, залучені до мутаційного процесу в локусах різної природи.
Keywords: мінісателітні та мікросателітні локуси, успадковані мутації, мутаційний рівень
Повний текст: (PDF, українською) (PDF, англійською)
References
[1]
Nei M. Molecular evolutionary genetics. New York: Columbia Univ. press, 1987. 512 p.
[3]
Vergnaud G, Mariat D, Apiou F, Aurias A, Lathrop M, Lauthier V. The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence. Genomics. 1991;11(1):135-44.
[4]
Huang QY, Xu FH, Shen H, Deng HY, Liu YJ, Liu YZ, Li JL, Recker RR, Deng HW. Mutation patterns at dinucleotide microsatellite loci in humans. Am J Hum Genet. 2002;70(3):625-34.
[5]
Brinkmann B, Klintschar M, Neuhuber F, H?hne J, Rolf B. Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet. 1998;62(6):1408-15.
[6]
Sajantila A, Lukka M, Syv?nen AC. Experimentally observed germline mutations at human micro- and minisatellite loci. Eur J Hum Genet. 1999;7(2):263-6.
[7]
Holtkemper U, Rolf B, Hohoff C, Forster P, Brinkmann B. Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques. Hum Mol Genet. 2001;10(6):629-33.
[8]
Bowcock AM, Ruiz-Linares A, Tomfohrde J, Minch E, Kidd JR, Cavalli-Sforza LL. High resolution of human evolutionary trees with polymorphic microsatellites. Nature. 1994;368(6470):455-7.
[9]
Santib??ez-Koref MF, Gangeswaran R, Hancock JM. A relationship between lengths of microsatellites and nearby substitution rates in mammalian genomes. Mol Biol Evol. 2001;18(11):2119-23.
[10]
Lee JS, Hanford MG, Genova JL, Farber RA. Relative stabilities of dinucleotide and tetranucleotide repeats in cultured mammalian cells. Hum Mol Genet. 1999;8(13):2567-72.
[11]
Chakraborty R, Kimmel M, Stivers DN, Davison LJ, Deka R. Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci. Proc Natl Acad Sci U S A. 1997;94(3):1041-6.
[12]
Bell GI, Selby MJ, Rutter WJ. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature. 1982;295(5844):31-5.
[13]
Jarman AP, Higgs DR. A new hypervariable marker for the human alpha-globin gene cluster. Am J Hum Genet. 1988;43(3):249-56.
[14]
Nakamura Y, Lathrop M, O'Connell P, Leppert M, Lalouel JM, White R. A primary map of ten DNA markers and two serological markers for human chromosome 19. Genomics. 1988;3(1):67-71.
[15]
Weber JL. Human DNA polymorphisms and methods of analysis. Curr Opin Biotechnol. 1990;1(2):166-71.
[16]
Jarman AP, Wells RA. Hypervariable minisatellites: recombinators or innocent bystanders? Trends Genet. 1989;5(11):367-71.
[17]
Freije D, Helms C, Watson MS, Donis-Keller H. Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science. 1992;258(5089):1784-7.
[18]
Cooke HJ, Brown WR, Rappold GA. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature. 1985 Oct 24-30;317(6039):687-92.
[19]
Jobling MA, Tyler-Smith C. Fathers and sons: the Y chromosome and human evolution. Trends Genet. 1995;11(11):449-56.
[20]
Jeffreys AJ, Wilson V, Thein SL. Hypervariable 'minisatellite' regions in human DNA. Nature. 1985 Mar 7-13;314(6006):67-73.
[21]
Jeffreys AJ, Wilson V, Thein SL. Individual-specific 'fingerprints' of human DNA. Nature. 1985 Jul 4-10;316(6023):76-9.
[22]
Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988;239(4839):487-91.
[23]
Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989;44(3):388-96.
[24]
Koschinsky ML, Beisiegel U, Henne-Bruns D, Eaton DL, Lawn RM. Apolipoprotein(a) size heterogeneity is related to variable number of repeat sequences in its mRNA. Biochemistry. 1990;29(3):640-4.
[25]
Litt M, Luty JA. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet. 1989;44(3):397-401.
[26]
Edwards A, Civitello A, Hammond HA, Caskey CT. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet. 1991;49(4):746-56.
[27]
Brinkmann B, Junge A, Meyer E, Wiegand P. Population genetic diversity in relation to microsatellite heterogeneity. Hum Mutat. 1998;11(2):135-44.
[28]
Slominskiĭ PA, Shadrina MI, Limborskaia SA. [Isolation of a protein, specifically binding with a triplet repeat of the (CTG)n type]. Mol Biol (Mosk). 1997;31(1):45-8.
[29]
Wang YH, Gellibolian R, Shimizu M, Wells RD, Griffith J. Long CCG triplet repeat blocks exclude nucleosomes: a possible mechanism for the nature of fragile sites in chromosomes. J Mol Biol. 1996;263(4):511-6.
[30]
Ga?tskoki VS, Patkin EL. [Satellite DNA and disease--possible mechanisms. Trinucleotide repeats]. Genetika. 2000;36(7):869-86.
[31]
Giovannucci E, Stampfer MJ, Krithivas K, Brown M, Dahl D, Brufsky A, Talcott J, Hennekens CH, Kantoff PW. The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proc Natl Acad Sci U S A. 1997;94(7):3320-3.
[32]
Jeffreys AJ, Royle NJ, Wilson V, Wong Z. Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature. 1988;332(6161):278-81.
[33]
Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Kr?ger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, Sajantila A. Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet. 2000;66(5):1580-8.
[34]
Jeffreys AJ, Tamaki K, MacLeod A, Monckton DG, Neil DL, Armour JA. Complex gene conversion events in germline mutation at human minisatellites. Nat Genet. 1994;6(2):136-45.
[35]
Jeffreys AJ, Neil DL, Neumann R. Repeat instability at human minisatellites arising from meiotic recombination. EMBO J. 1998;17(14):4147-57.
[36]
Debrauw?re H, Buard J, Tessier J, Aubert D, Vergnaud G, Nicolas A. Meiotic instability of human minisatellite CEB1 in yeast requires DNA double-strand breaks. Nat Genet. 1999;23(3):367-71.
[37]
Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260(5109):816-9.
[38]
Jones PA, Gonzalgo ML. Altered DNA methylation and genome instability: a new pathway to cancer? Proc Natl Acad Sci U S A. 1997;94(6):2103-5.
[39]
Bapat BV, Madlensky L, Temple LK, Hiruki T, Redston M, Baron DL, Xia L, Marcus VA, Soravia C, Mitri A, Shen W, Gryfe R, Berk T, Chodirker BN, Cohen Z, Gallinger S. Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer. Hum Genet. 1999;104(2):167-76.
[40]
Heale SM, Petes TD. The stabilization of repetitive tracts of DNA by variant repeats requires a functional DNA mismatch repair system. Cell. 1995;83(4):539-45.
[41]
Wierdl M, Dominska M, Petes TD. Microsatellite instability in yeast: dependence on the length of the microsatellite. Genetics. 1997;146(3):769-79.
[42]
Xu X, Peng M, Fang Z. The direction of microsatellite mutations is dependent upon allele length. Nat Genet. 2000;24(4):396-9.
[43]
Livshits LA, Malyarchuk SG, Kravchenko SA, Matsuka GH, Lukyanova EM, Antipkin YG, Arabskaya LP, Petit E, Giraudeau F, Gourmelon P, Vergnaud G, Le Guen B. Children of chernobyl cleanup workers do not show elevated rates of mutations in minisatellite alleles. Radiat Res. 2001;155(1 Pt 1):74-80.
[44]
Dubrova YE, Nesterov VN, Krouchinsky NG, Ostapenko VA, Neumann R, Neil DL, Jeffreys AJ. Human minisatellite mutation rate after the Chernobyl accident. Nature. 1996;380(6576):683-6.
[45]
Vogel F, Motulsky AG, Human genetics : problems and approaches. Berlin ; New York : Springer-Verlag, 1986. 807 p.
[46]
Rolf B, Brinkmann B. Reply to Henke and Henke. Am J Hum Genet. 1999;64(5):1473–4.
[48]
Kimura M, Ohta T. Distribution of allelic frequencies in a finite population under stepwise production of neutral alleles. Proc Natl Acad Sci U S A. 1975;72(7):2761-4.
[49]
Nikitina TV, Nazarenko SA. [Mutation in microsatellite repeats of DNA and embryonal death in humans]. Genetika. 2000;36(7):965-71.
[50]
Kodaira M, Satoh C, Hiyama K, Toyama K. Lack of effects of atomic bomb radiation on genetic instability of tandem-repetitive elements in human germ cells. Am J Hum Genet. 1995;57(6):1275-83.
[51]
Dubrova YE, Nesterov VN, Krouchinsky NG, Ostapenko VA, Vergnaud G, Giraudeau F, Buard J, Jeffreys AJ. Further evidence for elevated human minisatellite mutation rate in Belarus eight years after the Chernobyl accident. Mutat Res. 1997;381(2):267-78.
[52]
Dubrova YE, Bersimbaev RI, Djansugurova LB, Tankimanova MK, Mamyrbaeva ZZh, Mustonen R, Lindholm C, Hult?n M, Salomaa S. Nuclear weapons tests and human germline mutation rate. Science. 2002;295(5557):1037.
[53]
Chen XQ, Stroun M, Magnenat JL, Nicod LP, Kurt AM, Lyautey J, Lederrey C, Anker P. Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat Med. 1996;2(9):1033-5.
[54]
Rush EB, Calvano JE, van Zee KJ, Zelenetz AD, Borgen PI. Microsatellite instability in breast cancer. Ann Surg Oncol. 1997;4(4):310-5.
[55]
Spandidos DA, Koumantakis E, Sifakis S, Sourvinos G. Microsatellite mutations in spontaneously aborted embryos. Fertil Steril. 1998;70(5):892-5.
[56]
Nikitina TV, Lebedev IN, Sukhanova NN, Nazarenko SA. [Germline mutations of tetranucleotide DNA repeats in families with normal children and reproductive pathology]. Genetika. 2005;41(7):943-53.
[57]
Zhivotovsky LA Statistical methods for analysis of gene frequencies in natural populations. Theoretical population genetics. VINITI, 1983: 76-104. (Results of Science and Technology. Ser. General genetics; Vol. 8)
[58]
Loeb LA. Cancer cells exhibit a mutator phenotype. Adv Cancer Res. 1998;72:25-56.
[59]
Amarger V, Gauguier D, Yerle M, Apiou F, Pinton P, Giraudeau F, Monfouilloux S, Lathrop M, Dutrillaux B, Buard J, Vergnaud G. Analysis of distribution in the human, pig, and rat genomes points toward a general subtelomeric origin of minisatellite structures. Genomics. 1998;52(1):62-71.
[60]
Kimpton CP, Hopgood R, Watson SK, Gill P, Sullivan K. Cloning and characterisation of novel single locus probes for forensic purposes. Advances in Forensic Haemogenetics. 1992;129–31.