On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update.
benign tumour
cancer
chromosome pulverisation
chromothripsis
complex chromosomal rearrangements
constitutional chromothripsis
epigenetics
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2019
2019
Historique:
received:
05
01
2019
accepted:
11
04
2019
entrez:
23
5
2019
pubmed:
23
5
2019
medline:
23
5
2019
Statut:
epublish
Résumé
In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introduce aberrant epigenetic regulation as a possible pathway to chromothripsis. We address the issue of chromothripsis characteristics in cancers and benign tumours, as well as chromothripsis inheritance in cases of its occurrence in germ cells, zygotes and early embryos. Summarising the presented data on different phenotypic effect of chromothripsis, we assume that its consequences are most likely determined not by the chromosome shattering and reassembly themselves, but by the genome regions involved in the rearrangement.
Identifiants
pubmed: 31114609
doi: 10.3389/fgene.2019.00393
pmc: PMC6503150
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
393Références
J Cell Biochem. 2002;87(2):117-25
pubmed: 12244565
Science. 2003 Apr 18;300(5618):489-92
pubmed: 12702876
Proc Soc Exp Biol Med. 1964 Nov;117:546-9
pubmed: 14233492
Am J Pathol. 2005 Apr;166(4):1187-203
pubmed: 15793298
Chromosoma. 2005 Jul;114(2):118-26
pubmed: 15856360
Oncogene. 2006 Jul 20;25(31):4267-75
pubmed: 16532033
Proc Natl Acad Sci U S A. 1939 Aug;25(8):405-16
pubmed: 16577924
Oncogene. 2007 Aug 2;26(35):5115-23
pubmed: 17325665
Carcinogenesis. 2007 Aug;28(8):1831-8
pubmed: 17347136
Proc Natl Acad Sci U S A. 2007 Nov 6;104(45):17725-9
pubmed: 17978187
Int J Radiat Oncol Biol Phys. 2008 Feb 1;70(2):554-62
pubmed: 18207032
Cell Cycle. 2008 May 1;7(9):1238-45
pubmed: 18418050
Biochim Biophys Acta. 2008 Dec;1783(12):2398-414
pubmed: 18706456
PLoS Genet. 2008 Sep 05;4(9):e1000175
pubmed: 18773114
PLoS Genet. 2009 Jan;5(1):e1000327
pubmed: 19180184
Genome Res. 2009 Aug;19(8):1338-49
pubmed: 19584098
J Assist Reprod Genet. 2009 Sep-Oct;26(9-10):537-44
pubmed: 19876730
Genomics. 2010 Jun;95(6):315-27
pubmed: 20211242
Carcinogenesis. 2010 Oct;31(10):1882-8
pubmed: 20643754
Cell. 2011 Jan 7;144(1):9-10
pubmed: 21215363
Cell. 2011 Jan 7;144(1):27-40
pubmed: 21215367
Nature. 2011 Feb 10;470(7333):214-20
pubmed: 21307934
Hum Mol Genet. 2011 May 15;20(10):1916-24
pubmed: 21349919
Nature. 2011 Feb 24;470(7335):476-7
pubmed: 21350479
Cell. 2011 Sep 16;146(6):889-903
pubmed: 21925314
Nature. 2012 Jan 18;482(7383):53-8
pubmed: 22258507
Cell. 2012 Jan 20;148(1-2):29-32
pubmed: 22265399
Cell. 2012 Jan 20;148(1-2):59-71
pubmed: 22265402
Nature. 2012 Feb 22;483(7391):589-93
pubmed: 22367537
Nat Genet. 2012 Mar 04;44(4):390-7, S1
pubmed: 22388000
Mol Biol Cell. 2012 Jun;23(12):2240-52
pubmed: 22535522
Environ Mol Mutagen. 2012 Jul;53(6):429-39
pubmed: 22730201
Cell Rep. 2012 Jun 28;1(6):648-55
pubmed: 22813740
Nature. 2012 Aug 2;488(7409):49-56
pubmed: 22832581
Nat Rev Cancer. 2012 Oct;12(10):663-70
pubmed: 22972457
Nat Med. 2012 Nov;18(11):1630-8
pubmed: 23135524
Dev Cell. 2012 Nov 13;23(5):908-17
pubmed: 23153487
Nat Commun. 2012;3:1251
pubmed: 23212380
Cell Res. 2013 Mar;23(3):329-39
pubmed: 23399596
Genome Res. 2013 May;23(5):762-76
pubmed: 23410887
Curr Opin Cell Biol. 2013 Jun;25(3):341-8
pubmed: 23478216
Cell. 2013 Mar 14;152(6):1226-36
pubmed: 23498933
Mol Hum Reprod. 2013 Aug;19(8):495-9
pubmed: 23515669
Am J Med Genet A. 2013 May;161A(5):1181-4
pubmed: 23532917
Cell. 2013 Apr 25;153(3):666-77
pubmed: 23622249
N Engl J Med. 2013 Jul 4;369(1):43-53
pubmed: 23738515
Cell Cycle. 2013 Jul 1;12(13):2016-23
pubmed: 23759584
Eur J Hum Genet. 2014 Mar;22(3):338-43
pubmed: 23860044
Front Genet. 2013 Jul 11;4:131
pubmed: 23874352
Cancer Genet. 2013 Jun;206(6):238-51
pubmed: 23911237
Leuk Res Rep. 2012 Jan 1;1(1):4-6
pubmed: 23930239
PLoS One. 2013 Oct 15;8(10):e76985
pubmed: 24143197
Epigenetics. 2014 Jan;9(1):45-52
pubmed: 24149777
J Assist Reprod Genet. 2014 Feb;31(2):149-55
pubmed: 24322344
Neuron. 2014 Jan 22;81(2):306-13
pubmed: 24389010
Gene. 2014 Mar 15;538(1):69-73
pubmed: 24440784
Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):E672-81
pubmed: 24469795
BMC Genomics. 2014 Jan 29;15:82
pubmed: 24476156
Leuk Res. 2014 May;38(5):537-44
pubmed: 24636338
Nature. 2014 Apr 3;508(7494):98-102
pubmed: 24670643
Nucleic Acids Res. 2014 Jul;42(13):8231-42
pubmed: 24939897
Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I31
pubmed: 24949096
BMC Genomics. 2014 Jul 09;15:579
pubmed: 25011954
Prenat Diagn. 2015 Mar;35(3):299-301
pubmed: 25043231
Fertil Steril. 2014 Sep;102(3):621-9
pubmed: 25106763
Int J Radiat Biol. 2015 Feb;91(2):142-9
pubmed: 25264146
Nat Commun. 2014 Oct 29;5:5224
pubmed: 25351503
Fertil Steril. 2014 Dec;102(6):1785-96
pubmed: 25439810
Cell Rep. 2014 Dec 24;9(6):2001-10
pubmed: 25497101
Reproduction. 2015 Mar;149(3):223-33
pubmed: 25504867
Mol Cytogenet. 2014 Nov 29;7(1):88
pubmed: 25506394
Cancer Cell. 2014 Nov 10;26(5):653-67
pubmed: 25517748
Am J Med Genet A. 2015 Apr;167A(4):910-3
pubmed: 25736334
Am J Hum Genet. 2015 Apr 2;96(4):651-6
pubmed: 25799107
Mutat Res. 2015 Jul;777:52-9
pubmed: 25942615
Nature. 2015 Jun 11;522(7555):179-84
pubmed: 26017310
Mol Genet Genomics. 2015 Dec;290(6):2213-6
pubmed: 26040972
Genome Res. 2015 Jul;25(7):937-47
pubmed: 26070663
Cell. 2015 Jun 18;161(7):1502-4
pubmed: 26091034
Acta Neuropathol Commun. 2015 Jun 20;3:34
pubmed: 26091668
Reprod Biomed Online. 2015 Sep;31(3):309-19
pubmed: 26206278
Genet Med. 2016 May;18(5):494-500
pubmed: 26312826
Mol Syst Biol. 2015 Sep 28;11(9):828
pubmed: 26415501
Trends Cell Biol. 2016 Jan;26(1):52-64
pubmed: 26437586
Annu Rev Genet. 2015;49:183-211
pubmed: 26442848
Int J Cancer. 2016 May 15;138(10):2322-33
pubmed: 26455580
RNA Biol. 2015;12(12):1355-63
pubmed: 26488306
Mutat Res Genet Toxicol Environ Mutagen. 2015 Nov;793:185-98
pubmed: 26520389
Cell. 2015 Dec 17;163(7):1641-54
pubmed: 26687355
Mol Cytogenet. 2015 Dec 18;8:96
pubmed: 26689541
Bioinformatics. 2016 May 1;32(9):1433-5
pubmed: 26722116
Int J Cancer. 2016 Jun 15;138(12):2905-14
pubmed: 26856307
Oncotarget. 2016 Mar 1;7(9):10182-92
pubmed: 26862731
Clin Dysmorphol. 2016 Apr;25(2):58-62
pubmed: 26871565
Curr Opin Genet Dev. 2016 Feb;36:8-15
pubmed: 26874045
Hum Mutat. 2016 Apr;37(4):385-95
pubmed: 26929209
Hum Mutat. 2016 Jul;37(7):661-8
pubmed: 26936114
Oncotarget. 2016 Jun 21;7(25):37608-37621
pubmed: 26993771
Oncotarget. 2016 May 31;7(22):32707-22
pubmed: 27129166
Cytogenet Genome Res. 2016;148(2-3):156-64
pubmed: 27216161
Arch Toxicol. 2016 Nov;90(11):2657-2667
pubmed: 27542123
Expert Rev Mol Diagn. 2017 Jan;17(1):1-3
pubmed: 27830954
Nat Cell Biol. 2017 Jan;19(1):68-75
pubmed: 27918550
J Obstet Gynaecol Res. 2017 Jan;43(1):23-29
pubmed: 27928862
Epigenetics. 2017 Mar 4;12(3):187-197
pubmed: 28059592
Nat Rev Mol Cell Biol. 2017 Mar;18(3):175-186
pubmed: 28096526
Genome Med. 2017 Jan 26;9(1):9
pubmed: 28126037
Leukemia. 2017 Oct;31(10):2048-2056
pubmed: 28196983
Genome Biol. 2017 Mar 6;18(1):36
pubmed: 28260531
Cytogenet Genome Res. 2017;152(2):81-89
pubmed: 28662500
Nat Rev Genet. 2017 Nov;18(11):643-658
pubmed: 28804139
Trends Cell Biol. 2017 Dec;27(12):917-930
pubmed: 28899600
Curr Opin Virol. 2017 Oct;26:149-155
pubmed: 28910751
J Assist Reprod Genet. 2018 Feb;35(2):265-271
pubmed: 29086320
Eur J Obstet Gynecol Reprod Biol. 2017 Dec;219:134-136
pubmed: 29103617
Int J Biol Sci. 2017 Sep 21;13(10):1287-1296
pubmed: 29104495
Exp Cell Res. 1989 Mar;181(1):27-39
pubmed: 2917606
Oncotarget. 2017 Jun 1;8(51):88294-88307
pubmed: 29179435
J Med Genet. 2018 Apr;55(4):269-277
pubmed: 29378768
Hum Mutat. 2018 May;39(5):709-716
pubmed: 29405539
Methods Mol Biol. 2018;1769:35-41
pubmed: 29564816
Methods Mol Biol. 2018;1769:231-251
pubmed: 29564828
Methods Mol Biol. 2018;1769:279-289
pubmed: 29564831
J Gen Virol. 1986 Oct;67 ( Pt 10):2273-7
pubmed: 3020163
PLoS One. 2018 Oct 5;13(10):e0205298
pubmed: 30289920
Mol Reprod Dev. 2018 Dec;85(12):893-895
pubmed: 30320470
Virus Res. 1986 Dec;6(3):245-60
pubmed: 3033932
Mutat Res Genet Toxicol Environ Mutagen. 2018 Dec;836(Pt A):3-12
pubmed: 30389159
Cell Death Dis. 2018 Nov 15;9(12):1142
pubmed: 30442925
Cytogenet Genome Res. 2018;156(3):150-157
pubmed: 30497063
Mol Genet Genomic Med. 2019 Feb;7(2):e00496
pubmed: 30565424
Proc Soc Exp Biol Med. 1970 Jul;134(3):825-30
pubmed: 4317262
Cytogenetics. 1970;9(4):294-306
pubmed: 5474810
Cytogenetics. 1968;7(3):169-82
pubmed: 5682897
Hereditas. 1965;54(1):101-18
pubmed: 5889255
Cancer Res. 1981 Jun;41(6):2439-43
pubmed: 6165462
Clin Genet. 1980 Dec;18(6):436-44
pubmed: 7449183
Hum Reprod. 1995 Sep;10(9):2343-9
pubmed: 8530664