A Brief Review of Short Tandem Repeat Mutation

Tautz, 1993, Notes on the defunction and nomenclature of tandemly repetitive DNA sequences, 21 Koreth, 1996, Microsatellites and PCR genomic analysis, J. Pathol., 178, 239, 10.1002/(SICI)1096-9896(199603)178:3<239::AID-PATH506>3.0.CO;2-5 Ellegren, 2000, Heterogeneous mutation processes in human microsatellite DNA sequences, Nat. Genet., 24, 400, 10.1038/74249 Subramanian, 2003, Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions, Genome Biol., 4, R13, 10.1186/gb-2003-4-2-r13 2001, Initial sequencing and analysis of the human genome, Nature, 409, 860, 10.1038/35057062 Nadir, 1996, Microsatellite spreading in the human genome: evolutionary mechanisms and structural implications, Proc. Natl. Acad. Sci. USA, 93, 6470, 10.1073/pnas.93.13.6470 Urquhart, 1994, Variation in short tandem repeat sequences: a survey of twelve microsatellite locifor use as forensic identification markers, Int. J. Legal Med., 107, 13, 10.1007/BF01247268 Escher, 2000, Conservation of glutamine-rich transactivation function between yeast and humans, Mol. Cell. Biol., 20, 2774, 10.1128/MCB.20.8.2774-2782.2000 Gebhardt, 1999, Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1, J. Biol. Chem., 274, 13176, 10.1074/jbc.274.19.13176 Meloni, 1998, A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro, Hum. Mol. Genet., 3, 423, 10.1093/hmg/7.3.423 Contente, 2002, A polymorphic microsatellite that mediates induction of PIG3 by p53, Nat. Genet., 30, 315, 10.1038/ng836 Hamada, 1984, Enhanced gene expression by the poly(dT-dG).poly(dC-dA) sequence, Mol. Cell. Biol., 12, 2622, 10.1128/MCB.4.12.2622 Naylor, 1990, d(TG)n.d(CA)n sequences upstream of the rat prolactin gene form Z-DNA and inhibit gene transcription, Nucleic Acids Res., 18, 1595, 10.1093/nar/18.6.1595 Wahls, 1990, The Z-DNA motif d(TG)30 promotes reception of information during gene conversion events while stimulating homologous recombination in human cells in culture, Mol. Cell. Biol., 10, 785, 10.1128/MCB.10.2.785 Wang, 1995, Expanded CTG triplet blocks from myotonic dystrophy gene create the strongest known natural nucleosome positioning elements, Genomics, 25, 570, 10.1016/0888-7543(95)80061-P Heale, 1995, The stabilization of repetitive tracts of DNA by variant repeats requires a functional DNA mismatch repair system, Cell, 83, 539, 10.1016/0092-8674(95)90093-4 Huang, 2002, Mutation patterns at dinucleotide microsatellite loci in humans, Am. J. Hum. Genet., 70, 625, 10.1086/338997 Kayser, 2000, 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., 66, 1580, 10.1086/302905 Chakraborty, 1997, Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci, Proc. Natl. Acad. Sci. USA, 94, 1041, 10.1073/pnas.94.3.1041 Di Rienzo, 1998, Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories, Genetics, 148, 1269, 10.1093/genetics/148.3.1269 Hastbacka, 1992, Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland, Nat. Genet., 2, 204, 10.1038/ng1192-204 Holtkemper, 2001, Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques, Hum. Mol. Genet., 10, 629, 10.1093/hmg/10.6.629 Kornberg, 1964, Enzymatic Synthesis of deoxyribonucleic Acid. XVI. Oligonucleotides as Templates and the Mechanisms of Their replication, Proc. Natl. Acad. Sci. USA, 51, 315, 10.1073/pnas.51.2.315 Jobling, 2004, The diversity of the human genome, 67 Schlötterer, 1992, Slippage synthesis of simple sequence DNA, Nucleic Acids Res., 20, 211, 10.1093/nar/20.2.211 Strand, 1993, Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair, Nature, 365, 274, 10.1038/365274a0 Kruglyak, 1998, Equilibrium Distributions of Microsatellite Repeat Length resulting from a Balance between Slippage Events and Point Mutations, Proc. Natl. Acad. Sci. USA, 95, 10774, 10.1073/pnas.95.18.10774 Schlötterer, 1998, Genome evolution: are microsatellites really simple sequences?, Curr. Biol., 8, 132, 10.1016/S0960-9822(98)70989-3 Lai, 2003, The relationship between microsatellite slippage mutation rate and the number of repeat units, Mol. Biol. Evol., 20, 2123, 10.1093/molbev/msg228 Rose, 1998, A threshold size for microsatellite expansion, Mol. Biol. Evol., 15, 613, 10.1093/oxfordjournals.molbev.a025964 Messier, 1996, The birth of microsatellites, Nature, 381, 483, 10.1038/381483a0 Kimura, 1964, The number of alleles that can be maintained in a finite population, Genetics, 49, 725, 10.1093/genetics/49.4.725 Ota, 1973, A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population, Genet. Res., 22, 201, 10.1017/S0016672300012994 Shriver, 1993, VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach, Genetics, 134, 983, 10.1093/genetics/134.3.983 Di Rienzo, 1994, Mutational processes of simple sequence repeat loci in human populations, Proc. Natl. Acad. Sci. USA, 91, 3166, 10.1073/pnas.91.8.3166 Garza, 1996, Homoplasy for size at microsatellite loci in humans and chimpanzees, Genome Res., 6, 211, 10.1101/gr.6.3.211 Sajantila, 1999, Experimentally observed germline mutations at human micro- and minisatellite loci, Eur. J. Hum. Genet., 7, 263, 10.1038/sj.ejhg.5200257 Brinkmann, 1998, Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat, Am. J. Hum. Genet., 62, 1408, 10.1086/301869 Goldstein, 1995, Microsatellite variation in North American populations of Drosophila melanogaster, Nucleic Acids Res., 23, 3882, 10.1093/nar/23.19.3882 Neef, 2001, Microsatellite evolution in vertebrates: inference from AC dinucleotide repeats, Evolution, 55, 1717, 10.1111/j.0014-3820.2001.tb00822.x Lee, 1999, Relative stabilities of dinucleotide and tetranucleotide repeats in cultured mammalian cells, Hum. Mol. Genet., 8, 2567, 10.1093/hmg/8.13.2567 Zhivotovsky, 1997, Biased mutations and microsatellite variation, Mol. Biol. Evol., 14, 926, 10.1093/oxfordjournals.molbev.a025835 Amos, 1996, Microsatellites show mutational bias and heterozygote instability, Nat. Genet., 13, 390, 10.1093/oxfordjournals.molbev.a025678 Glenn, 1996, Allelic diversity in alligator microsatellite loci is negatively correlated with GC content of flanking sequences and evolutionary conservation of PCR amplifiability, Mol. Biol. Evol., 13, 1151, 10.1093/oxfordjournals.molbev.a025678 Balloux, 1998, Microsatellite conservation, polymorphism, and GC content in shrews of the genus Sorex (Insectivora, Mammalia), Mol. Biol. Evol., 15, 473, 10.1093/oxfordjournals.molbev.a025945 Payseur, 2000, Microsatellite variation and recombination rate in the human genome, Genetics, 156, 1285, 10.1093/genetics/156.3.1285 Shimmin, 1993, Male-driven evolution of DNA sequences, Nature, 362, 745, 10.1038/362745a0 Liu, 2004, Chromosomal diseases, 153 Dib, 1996, A comprehensive genetic map of the human genome based on 5,264 microsatellites, Nature, 380, 152, 10.1038/380152a0 Bowcock, 1994, High Resolution of human evolutionary Trees with polymorphic microsatellites, Nature, 368, 455, 10.1038/368455a0 Hammond, 1994, Evaluation of 13 short tandem repeat loci for use in personal identification applications, Am. J. Hum. Genet., 55, 175 Edwards, 1992, Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups, Genomics, 12, 241, 10.1016/0888-7543(92)90371-X Romualdi, 2002, Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms, Genome Res., 12, 602, 10.1101/gr.214902 Hardy, 2002, Microsatellite allele sizes: a simple test to assess their significance on genetic differentiation, Genetics, 163, 1467, 10.1093/genetics/163.4.1467 Goldstein, 1995, An evaluation of genetic distances for use with microsatellite loci, Genetics, 139, 463, 10.1093/genetics/139.1.463 Goldstein, 1995, Genetic absolute dating based on microsatellites and the origin of modern humans, Proc. Natl. Acad. Sci. USA, 92, 6723, 10.1073/pnas.92.15.6723 Nei, 1996, The root of the phylogenetic tree of human populations, Mol. Biol. Evol., 13, 170, 10.1093/oxfordjournals.molbev.a025553 Calafell, 1998, Short tandem repeat polymorphism evolution in humans, Eur. J. Hum. Genet., 6, 38, 10.1038/sj.ejhg.5200151 Jorde, 2000, The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data, Am. J. Hum. Genet., 66, 979, 10.1086/302825 Rosenberg, 2002, Genetic structure of human populations, Science, 298, 2381, 10.1126/science.1078311 Mountain, 2002, SNPSTRs: empirically derived, rapidly typed, autosomal haplotypes for inference of population history and mutational processes, Genome Res., 12, 1766, 10.1101/gr.238602