Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations

被引:322
作者
Kruglyak, S
Durrett, RT
Schug, MD
Aquadro, CF
机构
[1] Cornell Univ, Genet & Dev Sect, Ithaca, NY 14853 USA
[2] Cornell Univ, Sch Operat Res & Ind Engn, Ithaca, NY 14853 USA
[3] Cornell Univ, Dept Math, Ithaca, NY 14853 USA
关键词
D O I
10.1073/pnas.95.18.10774
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
We describe and test a Markov chain model of microsatellite evolution that can explain the different distributions of microsatellite lengths across different organisms and repeat motifs, Two key features of this model are the dependence of mutation rates on microsatellite length and a mutation process that includes both strand slippage and point mutation events. We compute the stationary distribution of allele lengths under this model and use it to fit DNA data for di-, tri-, and tetranucleotide repeats in humans, mice, fruit flies, and yeast, The best fit results lead to slippage rate estimates that are highest in mice, followed by humans, then yeast, and then fruit flies, Within each organism, the estimates are highest in di-, then tri-, and then tetranucleotide repeats. Our estimates are consistent with experimentally determined mutation rates from other studies. The results suggest that the different length distributions among organisms and repeat motifs can be explained by a simple difference in slippage rates and that selective constraints on length need not be imposed.
引用
收藏
页码:10774 / 10778
页数:5
相关论文
共 33 条
  • [1] BASIC LOCAL ALIGNMENT SEARCH TOOL
    ALTSCHUL, SF
    GISH, W
    MILLER, W
    MYERS, EW
    LIPMAN, DJ
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 1990, 215 (03) : 403 - 410
  • [2] The length distribution of perfect dimer repetitive DNA is consistent with its evolution by an unbiased single-step mutation process
    Bell, GI
    Jurka, J
    [J]. JOURNAL OF MOLECULAR EVOLUTION, 1997, 44 (04) : 414 - 421
  • [3] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER
    BROOK, JD
    MCCURRACH, ME
    HARLEY, HG
    BUCKLER, AJ
    CHURCH, D
    ABURATANI, H
    HUNTER, K
    STANTON, VP
    THIRION, JP
    HUDSON, T
    SOHN, R
    ZEMELMAN, B
    SNELL, RG
    RUNDLE, SA
    CROW, S
    DAVIES, J
    SHELBOURNE, P
    BUXTON, J
    JONES, C
    JUVONEN, V
    JOHNSON, K
    HARPER, PS
    SHAW, DJ
    HOUSMAN, DE
    [J]. CELL, 1992, 68 (04) : 799 - 808
  • [4] Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci
    Chakraborty, R
    Kimmel, M
    Stivers, DN
    Davison, LJ
    Deka, R
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (03) : 1041 - 1046
  • [5] ESTIMATION OF MICROSATELLITE MUTATION-RATES IN RECOMBINANT INBRED STRAINS OF MOUSE
    DALLAS, JF
    [J]. MAMMALIAN GENOME, 1992, 3 (08) : 452 - 456
  • [6] DIETRICH W, 1992, GENETICS, V131, P423
  • [7] MUTATIONAL PROCESSES OF SIMPLE-SEQUENCE REPEAT LOCI IN HUMAN-POPULATIONS
    DIRIENZO, A
    PETERSON, AC
    GARZA, JC
    VALDES, AM
    SLATKIN, M
    FREIMER, NB
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (08) : 3166 - 3170
  • [8] GENETIC-VARIATION AT 5 TRIMERIC AND TETRAMERIC TANDEM REPEAT LOCI IN 4 HUMAN-POPULATION GROUPS
    EDWARDS, A
    HAMMOND, HA
    JIN, L
    CASKEY, CT
    CHAKRABORTY, R
    [J]. GENOMICS, 1992, 12 (02) : 241 - 253
  • [9] Feldman MW, 1997, GENETICS, V145, P207
  • [10] VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX
    FU, YH
    KUHL, DPA
    PIZZUTI, A
    PIERETTI, M
    SUTCLIFFE, JS
    RICHARDS, S
    VERKERK, AJMH
    HOLDEN, JJA
    FENWICK, RG
    WARREN, ST
    OOSTRA, BA
    NELSON, DL
    CASKEY, CT
    [J]. CELL, 1991, 67 (06) : 1047 - 1058