Knowledge (XXG)

Stepwise mutation model

Source πŸ“

143:
number of times there are no mismatches, single mismatches, 2 mismatches, etc. Variance in allele sizes are used to make inferences about the genetic distance between individuals or populations. By comparing summary statistics at different levels of organization it is possible to make inferences about population histories. For example, we can examine the variance of allele size within a subpopulation as well as within the total population to infer something about population history.
155:). Therefore, the SMM cannot be used to determine the exact number of mutational events between two individuals. For example, individual A might have gained a single additional repeat (from an ancestor who had 9) whereas individual B might have lost a single repeat (from an ancestor who had 11), resulting in both individuals with identical number of microsatellite repeats (that is, 10 repeats for a particular locus). 25: 135:(i.e. determine relatedness of individuals) or determine genetic distance between groups of individuals. For example, more genetically distant individuals would show larger differences in the size of SSRs than more closely related individuals. Given the underlying assumptions of the SMM, it has been widely adopted for use with 142:
A number of summary statistics can be used to estimate genetic differentiation using the SMM model. These include number of alleles, observed and expected heterozygosity, and allele frequencies. The SMM model takes into account the frequency of mismatches between microsatellite loci, meaning the
171:
Molecular markers provide only a β€œsample” of the genetic information in which to compare individuals of populations, and can differ from actual genetic differentiation. For example, it is possible that two individual are identical at a given locus, having the same mutation even from its common
197:
and including variations that suggest that mutations are split between point mutations that disrupt stretches of repeats and the additions or removal of repeat units. This last assumption provides an explanation for why microsatellites do not evolve into enormous arrays of infinite
106:
that causes it to change in state, mutations that occur in repetitive regions of the genome will increase or decrease by a single repeat unit at a fixed rate (i.e. by the addition or subtraction of one repeat unit per generation) and these changes in
111:
states are expressed by an integer (. . . A-1, A, A1, .. .). The model also assumes random mating and that all alleles are selectively equivalent for each locus. The SMM is distinguished from the Kimura-Crow model, also known as the
150:
under the SMM is, however, complicated by the fact that it is possible to either gain or lose a repeat unit, thus alleles that are identical in size are not necessarily identical by descent (i.e. they show marker-size
167:
There are limitations associated with various marker types and the number of markers used can heavily influence analytical results (with a higher number of markers generally showing greater ability to resolve genetic
124:) and the mutation rate is fixed, the mean number of different alleles in the population rapidly reaches a peak and plateaus, at which time that value is almost the same as the effective number of alleles. 163:
Some important caveats and limitations to consider when choosing molecular markers for estimating the relatedness of individuals or distinguishing between populations include the following:
43: 572:
Estoup, Arnaud; Jarne, Philippe; Cornuet, Jean-Marie (2002). "Homoplasy and mutation model at microsatellite loci and their consequences for population genetics analysis".
251: 630:
Selkoe, Kimberly A.; Toonen, Robert J. (2006). "Microsatellites for ecologists: a practical guide to using and evaluating microsatellite markers".
79: 61: 681: 517: 397: 121: 457: 513:"Measuring genetic distances between breeds: use of some distances in various short term evolution models" 113: 260: 205: 217: 607: 490: 430: 312: 286: 187:
The original SMM has been modified in multiple ways to deal with these short comings, including:
194:
factoring in the likelihood of large alleles to show higher rates of mutation than small alleles
657: 649: 599: 591: 574: 554: 536: 482: 474: 422: 414: 369: 351: 304: 278: 641: 583: 544: 526: 466: 406: 359: 343: 294: 268: 91: 632: 264: 247:"Stepwise mutation model and distribution of allelic frequencies in a finite population" 549: 512: 364: 331: 213: 136: 128: 116:(IAM), in that as the population size increases to infinity, while the product of the N 299: 246: 675: 645: 587: 388: 147: 132: 611: 494: 455:
Ellegren, Hans (2004). "Microsatellites: simple sequences with complex evolution".
316: 238: 83: 434: 332:"Allele Frequencies at Microsatellite Loci: The Stepwise Mutation Model Revisited" 347: 242: 209: 175: 94:
in a finite population where neutral alleles are produced in step-wise fashion.
87: 531: 172:
ancestor, but could differ at other loci that were not observed (or sequenced).
139:
that contain repeat regions, are co-dominate, and have high rates of mutation.
410: 653: 595: 540: 478: 418: 355: 282: 208:
which has rapidly become widely used for correcting some common SMM errors:
152: 661: 603: 558: 486: 426: 273: 373: 308: 103: 178:
are not detectable by plain SMM and will produce very incorrect results.
511:
Laval, Guillaume; SanCristobal, Magali; Chevalet, Claude (2002-07-15).
290: 108: 470: 90:, that allows for investigation of the equilibrium distribution of 191:
taking into account the upper size limit to most microsatellites
18: 131:" (SSRs) between individuals can thus be used to construct 391:(2002). "Sequence divergence of rice microsatellites in 39: 625: 623: 621: 330:Valdes, A. M.; Slatkin, M.; Freimer, N. B. (1993). 102:The original model assumes that if an allele has a 34:
may be too technical for most readers to understand
506: 504: 450: 448: 446: 444: 252:Proceedings of the National Academy of Sciences 8: 548: 530: 363: 298: 272: 62:Learn how and when to remove this message 46:, without removing the technical details. 216:of large alleles, incorrect guessing of 230: 204:Van Oosterhout et al. 2004 introduces 201:Piry et al. 1999 introduces Bottleneck 44:make it understandable to non-experts 7: 14: 646:10.1111/j.1461-0248.2006.00889.x 588:10.1046/j.1365-294x.2002.01576.x 23: 398:Molecular Genetics and Genomics 127:Differences in the length of " 1: 518:Genetics Selection Evolution 220:, and typographical errors. 698: 532:10.1186/1297-9686-34-4-481 395:and other plant species". 348:10.1093/genetics/133.3.737 411:10.1007/s00438-002-0739-5 122:effective population size 458:Nature Reviews Genetics 129:simple sequence repeats 76:stepwise mutation model 274:10.1073/pnas.75.6.2868 137:microsatellite markers 114:infinite alleles model 682:Population genetics 387:Chen, X.; Cho, Y.; 265:1978PNAS...75.2868K 92:allelic frequencies 80:mathematical theory 16:Mathematical theory 575:Molecular Ecology 72: 71: 64: 689: 666: 665: 627: 616: 615: 582:(9): 1591–1604. 569: 563: 562: 552: 534: 508: 499: 498: 452: 439: 438: 384: 378: 377: 367: 327: 321: 320: 302: 276: 259:(6): 2868–2872. 235: 146:Construction of 67: 60: 56: 53: 47: 27: 26: 19: 697: 696: 692: 691: 690: 688: 687: 686: 672: 671: 670: 669: 633:Ecology Letters 629: 628: 619: 571: 570: 566: 510: 509: 502: 471:10.1038/nrg1348 454: 453: 442: 386: 385: 381: 329: 328: 324: 237: 236: 232: 227: 212:, preferential 185: 161: 119: 100: 82:, developed by 68: 57: 51: 48: 40:help improve it 37: 28: 24: 17: 12: 11: 5: 695: 693: 685: 684: 674: 673: 668: 667: 640:(5): 615–629. 617: 564: 525:(4): 481–507. 500: 465:(6): 435–445. 440: 405:(3): 331–343. 389:McCouch, Susan 379: 322: 245:(1978-06-01). 229: 228: 226: 223: 222: 221: 214:allele dropout 202: 199: 195: 192: 184: 181: 180: 179: 173: 169: 160: 157: 117: 99: 96: 70: 69: 31: 29: 22: 15: 13: 10: 9: 6: 4: 3: 2: 694: 683: 680: 679: 677: 663: 659: 655: 651: 647: 643: 639: 635: 634: 626: 624: 622: 618: 613: 609: 605: 601: 597: 593: 589: 585: 581: 577: 576: 568: 565: 560: 556: 551: 546: 542: 538: 533: 528: 524: 520: 519: 514: 507: 505: 501: 496: 492: 488: 484: 480: 476: 472: 468: 464: 460: 459: 451: 449: 447: 445: 441: 436: 432: 428: 424: 420: 416: 412: 408: 404: 400: 399: 394: 390: 383: 380: 375: 371: 366: 361: 357: 353: 349: 345: 342:(3): 737–49. 341: 337: 333: 326: 323: 318: 314: 310: 306: 301: 296: 292: 288: 284: 280: 275: 270: 266: 262: 258: 254: 253: 248: 244: 240: 239:Kimura, Motoo 234: 231: 224: 219: 218:stutter peaks 215: 211: 207: 206:micro-checker 203: 200: 196: 193: 190: 189: 188: 182: 177: 174: 170: 168:differences). 166: 165: 164: 158: 156: 154: 149: 144: 140: 138: 134: 130: 125: 123: 115: 110: 105: 97: 95: 93: 89: 85: 81: 77: 66: 63: 55: 45: 41: 35: 32:This article 30: 21: 20: 637: 631: 579: 573: 567: 522: 516: 462: 456: 402: 396: 392: 382: 339: 335: 325: 256: 250: 243:Ohta, Tomoko 233: 210:null alleles 186: 176:Null alleles 162: 145: 141: 126: 101: 84:Motoo Kimura 75: 73: 58: 49: 33: 159:Limitations 148:phylogenies 133:phylogenies 98:Description 88:Tomoko Ohta 78:(SMM) is a 225:References 183:Extensions 52:April 2018 654:1461-023X 596:0962-1083 541:1297-9686 479:1471-0056 419:1617-4615 356:0016-6731 283:0027-8424 153:homoplasy 676:Category 662:16643306 612:25797455 604:12207711 559:12270106 495:11975343 487:15153996 427:12436255 336:Genetics 104:mutation 550:2705457 374:8454213 365:1205356 317:8084577 261:Bibcode 38:Please 660:  652:  610:  602:  594:  557:  547:  539:  493:  485:  477:  435:886970 433:  425:  417:  372:  362:  354:  315:  309:275857 307:  300:392666 297:  289:  281:  109:allele 608:S2CID 491:S2CID 431:S2CID 393:Oryza 313:S2CID 291:68345 287:JSTOR 198:size. 658:PMID 650:ISSN 600:PMID 592:ISSN 555:PMID 537:ISSN 483:PMID 475:ISSN 423:PMID 415:ISSN 370:PMID 352:ISSN 305:PMID 279:ISSN 86:and 74:The 642:doi 584:doi 545:PMC 527:doi 467:doi 407:doi 403:268 360:PMC 344:doi 340:133 295:PMC 269:doi 42:to 678:: 656:. 648:. 636:. 620:^ 606:. 598:. 590:. 580:11 578:. 553:. 543:. 535:. 523:34 521:. 515:. 503:^ 489:. 481:. 473:. 461:. 443:^ 429:. 421:. 413:. 401:. 368:. 358:. 350:. 338:. 334:. 311:. 303:. 293:. 285:. 277:. 267:. 257:75 255:. 249:. 241:; 664:. 644:: 638:9 614:. 586:: 561:. 529:: 497:. 469:: 463:5 437:. 409:: 376:. 346:: 319:. 271:: 263:: 120:( 118:e 65:) 59:( 54:) 50:( 36:.

Index

help improve it
make it understandable to non-experts
Learn how and when to remove this message
mathematical theory
Motoo Kimura
Tomoko Ohta
allelic frequencies
mutation
allele
infinite alleles model
effective population size
simple sequence repeats
phylogenies
microsatellite markers
phylogenies
homoplasy
Null alleles
micro-checker
null alleles
allele dropout
stutter peaks
Kimura, Motoo
Ohta, Tomoko
"Stepwise mutation model and distribution of allelic frequencies in a finite population"
Proceedings of the National Academy of Sciences
Bibcode
1978PNAS...75.2868K
doi
10.1073/pnas.75.6.2868
ISSN

Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.

↑