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Indel

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without changing the overall number in the DNA. Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. A TBM is defined as a substitution at adjacent nucleotides (primarily substitutions at two adjacent nucleotides, but substitutions
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in a different frame. Indels that are not multiples of 3 are particularly uncommon in coding regions but relatively common in non-coding regions. There are approximately 192-280 frameshifting indels in each person. Indels are likely to represent between 16% and 25% of all sequence polymorphisms in
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Using passenger-immunoglobulin mouse models, a study found that the most prevalent indel events are the activation-induced cytidine deaminase (AID)-dependent ±1-base pair (bp) indels, which can lead to deleterious outcomes, whereas longer in-frame indels were rare outcomes.
129:. In systematics, researchers could find differences between sequences, such as from two different species. But it was impossible to infer if one species lost the sequence or the other species gained it. For example, species 878:
Hao, Qian; Zhan, Chuanzong; Lian, Chaoyang; Luo, Simin; Cao, Wenyi; Wang, Binbin; Xie, Xia; Ye, Xiaofei; Gui, Tuantuan; Voena, Claudia; Pighi, Chiara; Wang, Yanyan; Tian, Ying; Wang, Xin; Dai, Pengfei (2023-03-31).
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has 5 G's at the same locus. If the mode of selection is unknown, one can not tell if species A lost one G (a "deletion" event") or species B gained one G (an "insertion" event). When one cannot infer the
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Buettner VL, Hill KA, Halangoda A, Sommer SS (1999). "Tandem-base mutations occur in mouse liver and adipose tissue preferentially as G:C to T:A transversions and accumulate with age".
649:"Identifying the genome-wide sequence variations and developing new molecular markers for genetics research by re-sequencing a Landrace cultivar of foxtail millet" 318:
Hill KA, Wang J, Farwell KD, Sommer SS (January 2003). "Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity".
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Nakamura H, Muro T, Imamura S, Yuasa I (March 2009). "Forensic species identification based on size variation of mitochondrial DNA hypervariable regions".
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Kaneko T, Tahara S, Matsuo M (May 1996). "Non-linear accumulation of 8-hydroxy-2'-deoxyguanosine, a marker of oxidized DNA damage, during aging".
449:"Whole-gene positive selection, elevated synonymous substitution rates, duplication, and indel evolution of the chloroplast clpP1 gene" 366: 183:
Mahmoud, Medhat; Gobet, Nastassia; Cruz-Dávalos, Diana Ivette; Mounier, Ninon; Dessimoz, Christophe; Sedlazeck, Fritz J. (2019).
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studies. It has been shown that genomic regions with multiple indels can also be used for species-identification procedures.
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Indels, being either insertions, or deletions, can be used as genetic markers in natural populations, especially in
78:. An indel inserts or deletes nucleotides from a sequence, while a point mutation is a form of substitution that 107: 125:
for use in the sense described above. This is a change from its original use and meaning, which arose from
881:"DNA repair mechanisms that promote insertion-deletion events during immunoglobulin gene diversification" 106:
humans. In most known genomes, including humans, indel frequency tends to be markedly lower than that of
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Taberlet P, Coissac E, Pompanon F, Gielly L, Miquel C, Valentini A, et al. (26 January 2007).
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results in a frameshift during mRNA translation that could lead to an inappropriate (premature)
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Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, et al. (October 2010).
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Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, Pittard WS, Devine SE (September 2006).
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Pereira F, Carneiro J, Matthiesen R, van Asch B, Pinto N, GusmĂŁo L, Amorim A (December 2010).
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direction of the sequence change, the sequence change event is referred to as an "indel".
8: 1041: 981: 164: 65: 42: 1102: 1092: 1087: 913: 880: 774: 708:"Genome-wide patterns of genetic variation in sweet and grain sorghum (Sorghum bicolor)" 664: 464: 840: 815: 791: 758: 734: 707: 683: 648: 624: 599: 580: 532: 507: 483: 448: 424: 397: 378: 260: 235: 211: 184: 331: 296: 1133: 1026: 1021: 939: 918: 900: 845: 796: 739: 688: 629: 572: 537: 488: 429: 398:"Insertion-deletion polymorphisms (indels) as genetic markers in natural populations" 370: 335: 300: 265: 216: 600:"Power and limitations of the chloroplast trnL (UAA) intron for plant DNA barcoding" 584: 382: 1097: 1046: 908: 892: 835: 827: 786: 778: 729: 719: 678: 668: 619: 611: 564: 527: 519: 478: 468: 419: 409: 362: 327: 292: 255: 247: 206: 196: 64:
of the genome, unless the length of an indel is a multiple of 3, it will produce a
1036: 673: 473: 816:"An initial map of insertion and deletion (INDEL) variation in the human genome" 1013: 896: 724: 74: 69: 706:
Zheng LY, Guo XS, He B, Sun LJ, Peng Y, Dong SS, et al. (November 2011).
568: 508:"Identification of species by multiplex analysis of variable-length sequences" 201: 1127: 904: 61: 251: 989: 922: 849: 800: 743: 692: 633: 576: 541: 492: 433: 374: 339: 269: 220: 91: 414: 304: 615: 523: 126: 83: 782: 68:. For example, a common microindel which results in a frameshift causes 831: 102: 46: 72:
in the Jewish or Japanese population. Indels can be contrasted with a
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10.1002/(SICI)1098-2280(1999)33:4<320::AID-EM9>3.0.CO;2-S
143: 122: 962: 759:"A map of human genome variation from population-scale sequencing" 505: 134: 647:
Bai H, Cao Y, Quan J, Dong L, Li Z, Zhu Y, et al. (2013).
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An indel change of a single base pair in the coding part of an
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Väli U, Brandström M, Johansson M, Ellegren H (January 2008).
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of an organism. Indels ≥ 50 bases in length are classified as
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The term "indel" has been co-opted in recent years by genome
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For the rural locality in Murmansk Oblast, Russia, see
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Erixon P, Oxelman B (January 2008). Volff JN (ed.).
640: 110:, except near highly repetitive regions, including 87:at three adjacent nucleotides have been observed). 282: 1125: 867:(9th ed.). W. H. Freeman. pp. 726–892. 877: 646: 947: 705: 446: 311: 954: 940: 276: 37:etion) is a molecular biology term for an 912: 839: 790: 733: 723: 682: 672: 623: 531: 482: 472: 440: 423: 413: 259: 210: 200: 1081:Mutation with respect to overall fitness 557:International Journal of Legal Medicine 389: 355:Environmental and Molecular Mutagenesis 1126: 862: 935: 807: 108:single nucleotide polymorphisms (SNP) 23:Insertions and deletions in a genome 137:nucleotides at a locus and species 13: 1006:Mutation with respect to structure 234:Ebert, Peter; et al. (2021). 14: 1150: 871: 856: 750: 591: 548: 499: 346: 227: 176: 1: 332:10.1016/S1383-5718(02)00277-2 297:10.1016/S0921-8734(96)90010-7 170: 961: 674:10.1371/journal.pone.0073514 474:10.1371/journal.pone.0001386 7: 153: 10: 1155: 1063:Chromosomal translocations 897:10.1126/sciimmunol.ade1167 725:10.1186/gb-2011-12-11-r114 15: 1080: 1055: 1012: 1005: 969: 569:10.1007/s00414-008-0306-7 202:10.1186/s13059-019-1828-7 1103:Nearly neutral mutation 252:10.1126/science.abf7117 1113:Nonsynonymous mutation 1068:Chromosomal inversions 970:Mechanisms of mutation 865:Molecular Cell Biology 604:Nucleic Acids Research 512:Nucleic Acids Research 18:Indel (rural locality) 1093:Advantageous mutation 1032:Conservative mutation 415:10.1186/1471-2156-9-8 1088:Deleterious mutation 1056:Large-scale mutation 160:Insertion (genetics) 1108:Synonymous mutation 1042:Frameshift mutation 783:10.1038/nature09534 775:2010Natur.467.1061T 769:(7319): 1061–1073. 665:2013PLoSO...873514B 465:2008PLoSO...3.1386E 165:Deletion (genetics) 66:frameshift mutation 55:structural variants 885:Science Immunology 863:Lodish, H (2021). 832:10.1101/gr.4565806 616:10.1093/nar/gkl938 524:10.1093/nar/gkq865 246:(6537): eabf7117. 1139:Molecular biology 1121: 1120: 1076: 1075: 1027:Missense mutation 1022:Nonsense mutation 320:Mutation Research 285:Mutation Research 1146: 1098:Neutral mutation 1047:Dynamic mutation 1010: 1009: 956: 949: 942: 933: 932: 927: 926: 916: 891:(81): eade1167. 875: 869: 868: 860: 854: 853: 843: 826:(9): 1182–1190. 811: 805: 804: 794: 754: 748: 747: 737: 727: 703: 697: 696: 686: 676: 644: 638: 637: 627: 595: 589: 588: 552: 546: 545: 535: 503: 497: 496: 486: 476: 444: 438: 437: 427: 417: 393: 387: 386: 350: 344: 343: 326:(1–2): 173–186. 315: 309: 308: 291:(5–6): 277–285. 280: 274: 273: 263: 231: 225: 224: 214: 204: 180: 1154: 1153: 1149: 1148: 1147: 1145: 1144: 1143: 1124: 1123: 1122: 1117: 1072: 1051: 1037:Silent mutation 1001: 965: 960: 930: 876: 872: 861: 857: 820:Genome Research 812: 808: 755: 751: 704: 700: 645: 641: 596: 592: 553: 549: 504: 500: 445: 441: 394: 390: 351: 347: 316: 312: 281: 277: 232: 228: 181: 177: 173: 156: 133:has a run of 4 116:microsatellites 24: 21: 12: 11: 5: 1152: 1142: 1141: 1136: 1119: 1118: 1116: 1115: 1110: 1105: 1100: 1095: 1090: 1084: 1082: 1078: 1077: 1074: 1073: 1071: 1070: 1065: 1059: 1057: 1053: 1052: 1050: 1049: 1044: 1039: 1034: 1029: 1024: 1018: 1016: 1014:Point mutation 1007: 1003: 1002: 1000: 999: 998: 997: 992: 984: 979: 973: 971: 967: 966: 959: 958: 951: 944: 936: 929: 928: 870: 855: 806: 749: 712:Genome Biology 698: 639: 590: 563:(2): 177–184. 547: 498: 439: 388: 361:(4): 320–324. 345: 310: 275: 226: 189:Genome Biology 174: 172: 169: 168: 167: 162: 155: 152: 75:point mutation 70:Bloom syndrome 62:coding regions 22: 9: 6: 4: 3: 2: 1151: 1140: 1137: 1135: 1132: 1131: 1129: 1114: 1111: 1109: 1106: 1104: 1101: 1099: 1096: 1094: 1091: 1089: 1086: 1085: 1083: 1079: 1069: 1066: 1064: 1061: 1060: 1058: 1054: 1048: 1045: 1043: 1040: 1038: 1035: 1033: 1030: 1028: 1025: 1023: 1020: 1019: 1017: 1015: 1011: 1008: 1004: 996: 993: 991: 988: 987: 986:Substitution 985: 983: 980: 978: 975: 974: 972: 968: 964: 957: 952: 950: 945: 943: 938: 937: 934: 924: 920: 915: 910: 906: 902: 898: 894: 890: 886: 882: 874: 866: 859: 851: 847: 842: 837: 833: 829: 825: 821: 817: 810: 802: 798: 793: 788: 784: 780: 776: 772: 768: 764: 760: 753: 745: 741: 736: 731: 726: 721: 717: 713: 709: 702: 694: 690: 685: 680: 675: 670: 666: 662: 659:(9): e73514. 658: 654: 650: 643: 635: 631: 626: 621: 617: 613: 609: 605: 601: 594: 586: 582: 578: 574: 570: 566: 562: 558: 551: 543: 539: 534: 529: 525: 521: 517: 513: 509: 502: 494: 490: 485: 480: 475: 470: 466: 462: 458: 454: 450: 443: 435: 431: 426: 421: 416: 411: 407: 403: 399: 392: 384: 380: 376: 372: 368: 364: 360: 356: 349: 341: 337: 333: 329: 325: 321: 314: 306: 302: 298: 294: 290: 286: 279: 271: 267: 262: 257: 253: 249: 245: 241: 237: 230: 222: 218: 213: 208: 203: 198: 194: 190: 186: 179: 175: 166: 163: 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383:37019230 375:10398380 340:12504766 270:33632895 221:31747936 154:See also 80:replaces 43:deletion 33:sertion- 841:1557762 792:3042601 771:Bibcode 735:3334600 684:3769310 661:Bibcode 625:1807943 533:3001097 484:2148103 461:Bibcode 425:2266919 305:8649461 261:8026704 240:Science 212:6868818 49:in the 921:  911:  903:  848:  838:  799:  789:  763:Nature 742:  732:  691:  681:  632:  622:  583:  575:  540:  530:  491:  481:  432:  422:  381:  373:  338:  303:  268:  258:  219:  209:  51:genome 581:S2CID 408:: 8. 379:S2CID 47:bases 27:Indel 919:PMID 901:ISSN 846:PMID 797:PMID 740:PMID 689:PMID 630:PMID 573:PMID 538:PMID 489:PMID 430:PMID 371:PMID 336:PMID 301:PMID 266:PMID 217:PMID 114:and 99:mRNA 909:PMC 893:doi 836:PMC 828:doi 787:PMC 779:doi 767:467 730:PMC 720:doi 679:PMC 669:doi 620:PMC 612:doi 565:doi 561:123 528:PMC 520:doi 479:PMC 469:doi 420:PMC 410:doi 363:doi 328:doi 324:534 293:doi 289:316 256:PMC 248:doi 244:372 207:PMC 197:doi 60:In 45:of 41:or 35:del 1130:: 917:. 907:. 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Index

Indel (rural locality)
insertion
deletion
bases
genome
structural variants
coding regions
frameshift mutation
Bloom syndrome
point mutation
nucleotides
phylogenetic
mRNA
stop codon
single nucleotide polymorphisms (SNP)
homopolymers
microsatellites
scientists
systematics
G
phylogenetic
Insertion (genetics)
Deletion (genetics)
"Structural variant calling: the long and the short of it"
doi
10.1186/s13059-019-1828-7
PMC
6868818
PMID
31747936

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