|
1
|
Snijders AM, Nowak N, Segraves R,
Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B,
Kimura K, et al: Assembly of microarrays for genome-wide
measurement of DNA copy number. Nat Genet. 29:263–264.
2001.PubMed/NCBI View
Article : Google Scholar
|
|
2
|
Database of Genomic Variants: A curated
catalogue of human genomic structural variation. dgv.tcag.ca/. Accessed September 24, 2019.
|
|
3
|
Chen L, Zhou W, Zhang L and Zhang F:
Genome architecture and its roles in human copy number variation.
Genomics Inform. 12:136–144. 2014.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Zarrei M, MacDonald JR, Merico D and
Scherer SW: A copy number variation map of the human genome. Nat
Rev Genet. 16:172–183. 2015.PubMed/NCBI View
Article : Google Scholar
|
|
5
|
Conrad DF, Pinto D, Redon R, Feuk L,
Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, et
al: Origins and functional impact of copy number variation in the
human genome. Nature. 464:704–712. 2010.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Harel T and Lupski JR: Genomic disorders
20 years on-mechanisms for clinical manifestations. Clin Genet.
93:439–449. 2018.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Marcozzi A, Pellestor F and Kloosterman
WP: The genomic characteristics and origin of chromothripsis.
Methods Mol Biol. 1769:3–19. 2018.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Zhang CZ, Spektor A, Cornils H, Francis
JM, Jackson EK, Liu S, Meyerson M and Pellman D: Chromothripsis
from DNA damage in micronuclei. Nature. 522:179–184.
2015.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Nik-Zainal S, Alexandrov LB, Wedge DC, Van
Loo P, Greenman CD, Raine K, Jones D, Hinton J, Marshall J,
Stebbings LA, et al: Mutational processes molding the genomes of 21
breast cancers. Cell. 149:979–993. 2012.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Luijten MNH, Lee JXT and Crasta KC:
Mutational game changer: Chromothripsis and its emerging relevance
to cancer. Mutat Res. 777:29–51. 2018.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Bickhart DM (ed): Copy Number Variants.
Methods and Protocols. Humana Press, New York, NY, pp10-206,
2018.
|
|
12
|
Dhokarh D and Abyzov A: Elevated variant
density around SV breakpoints in germline lineage lends support to
error-prone replication hypothesis. Genome Res. 26:874–881.
2016.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Emanuel BS and Shaikh TH: Segmental
duplications: An ‘expanding’ role in genomic instability and
disease. Nat Rev Genet. 2:791–800. 2001.PubMed/NCBI View
Article : Google Scholar
|
|
14
|
Carvalho CM and Lupski JR: Mechanisms
underlying structural variant formation in genomic disorders. Nat
Rev Genet. 17:224–238. 2016.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Hastings PJ, Lupski JR, Rosenberg SM and
Ira G: Mechanisms of change in gene copy number. Nat Rev Genet.
10:551–564. 2009.PubMed/NCBI View
Article : Google Scholar
|
|
16
|
Gu S, Yuan B, Campbell IM, Beck CR,
Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, et
al: Alu-mediated diverse and complex pathogenic copy-number
variants within human chromosome 17 at p13.3. Hum Mol Genet.
24:4061–4077. 2015.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Koren A, Polak P, Nemesh J, Michaelson JJ,
Sebat J, Sunyaev SR and McCarroll SA: Differential relationship of
DNA replication timing to different forms of human mutation and
variation. Am J Hum Genet. 91:1033–1040. 2012.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Hattori A, Okamura K, Terada Y, Tanaka R,
Katoh-Fukui Y, Matsubara Y, Matsubara K, Kagami M, Horikawa R and
Fukami M: Transient multifocal genomic crisis creating
chromothriptic and non-chromothriptic rearrangements in prezygotic
testicular germ cells. BMC Med Genomics. 12(77)2019.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Liu P, Yuan B, Carvalho CMB, Wuster A,
Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z,
et al: An organismal CNV mutator phenotype restricted to early
human development. Cell. 168:830–842.e7. 2017.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Kearney HM, Thorland EC, Brown KK,
Quintero-Rivera F and South ST: Working Group of the American
College of Medical Genetics Laboratory Quality Assurance Committee.
American college of medical genetics standards and guidelines for
interpretation and reporting of postnatal constitutional copy
number variants. Genet Med. 13:680–685. 2011.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Zepeda-Mendoza CJ and Morton CC: The
iceberg under water: Unexplored complexity of chromoanagenesis in
congenital disorders. Am J Hum Genet. 104:565–577. 2019.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Stephens PJ, Greenman CD, Fu B, Yang F,
Bignell GR, Mudie LJ, Pleasance ED, Lau KW, Beare D, Stebbings LA,
et al: Massive genomic rearrangement acquired in a single
catastrophic event during cancer development. Cell. 144:27–40.
2011.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Chromothripsis DB: A curated database of
chromothripsis. http://cgma.scu.edu.cn/ChromothripsisDB. Accessed
September 2, 2019.
|
|
24
|
Cai H: ChromothripsisDB: A curated
database for the documentation, visualization, and mining of
chromothripsis data. Methods Mol Biol. 1769:279–289.
2018.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Morishita M, Muramatsu T, Suto Y, Hirai M,
Konishi T, Hayashi S, Shigemizu D, Tsunoda T, Moriyama K and
Inazawa J: Chromothripsis-like chromosomal rearrangements induced
by ionizing radiation using proton microbeam irradiation system.
Oncotarget. 7:10182–10192. 2016.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Mladenov E, Saha J and Iliakis G:
Processing-challenges generated by clusters of dna double-strand
breaks underpin increased effectiveness of High-LET radiation and
chromothripsis. Adv Exp Med Biol. 1044:149–168. 2018.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Crasta K, Ganem NJ, Dagher R, Lantermann
AB, Ivanova EV, Pan Y, Nezi L, Protopopov A, Chowdhury D and
Pellman D: DNA breaks and chromosome pulverization from errors in
mitosis. Nature. 482:53–58. 2012.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Leibowitz ML, Zhang CZ and Pellman D:
Chromothripsis: A new mechanism for rapid karyotype evolution. Annu
Rev Genet. 49:183–211. 2015.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Maciejowski J, Li Y, Bosco N, Campbell PJ
and de Lange T: Chromothripsis and kataegis induced by telomere
crisis. Cell. 163:1641–1654. 2015.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Tubio JM and Estivill X: Cancer: When
catastrophe strikes a cell. Nature. 470:476–477. 2011.PubMed/NCBI View
Article : Google Scholar
|
|
31
|
Mardin BR, Drainas AP, Waszak SM,
Weischenfeldt J, Isokane M, Stütz AM, Raeder B, Efthymiopoulos T,
Buccitelli C, Segura-Wang M, et al: A cell-based model system links
chromothripsis with hyperploidy. Mol Syst Biol.
11(828)2015.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Ivkov R and Bunz F: Pathways to
chromothripsis. Cell Cycle. 14:2886–2890. 2015.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Kloosterman WP, Guryev V, van Roosmalen M,
Duran KJ, de Bruijn E, Bakker SC, Letteboer T, van Nesselrooij B,
Hochstenbach R, Poot M and Cuppen E: Chromothripsis as a mechanism
driving complex de novo structural rearrangements in the germline.
Hum Mol Genet. 20:1916–1924. 2011.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Kloosterman WP, Tavakoli-Yaraki M, van
Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L,
Vergult S, Giardino D, Hansson K, et al: Constitutional
chromothripsis rearrangements involve clustered double-stranded DNA
breaks and nonhomologous repair mechanisms. Cell Rep. 1:648–655.
2012.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Nazaryan-Petersen L, Bertelsen B, Bak M,
Jønson L, Tommerup N, Hancks DC and Tümer Z: Germline
chromothripsis driven by L1-mediated retrotransposition and Alu/Alu
homologous recombination. Hum Mutat. 37:385–395. 2016.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Masset H, Hestand MS, Van Esch H,
Kleinfinger P, Plaisancié J, Afenjar A, Molignier R, Schluth-Bolard
C, Sanlaville D and Vermeesch JR: A distinct class of
chromoanagenesis events characterized by focal copy number gains.
Hum Mutat. 37:661–668. 2016.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Fukami M, Shima H, Suzuki E, Ogata T,
Matsubara K and Kamimaki T: Catastrophic cellular events leading to
complex chromosomal rearrangements in the germline. Clin Genet.
91:653–660. 2017.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Kloosterman WP and Cuppen E:
Chromothripsis in congenital disorders and cancer: Similarities and
differences. Curr Opin Cell Biol. 25:341–348. 2013.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Pellestor F and Gatinois V: Potential role
of chromothripsis in the genesis of complex chromosomal
rearrangements in human gametes and preimplantation embryo. Methods
Mol Biol. 1769:35–41. 2018.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Poot M and Haaf T: Mechanisms of origin,
phenotypic effects and diagnostic implications of complex
chromosome rearrangements. Mol Syndromol. 6:110–134.
2015.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Macera MJ, Sobrino A, Levy B, Jobanputra
V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S,
Pillalamarri V, et al: Prenatal diagnosis of chromothripsis, with
nine breaks characterized by karyotyping, FISH, microarray and
whole-genome sequencing. Prenat Diagn. 35:299–301. 2015.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Gamba BF, Richieri-Costa A, Costa S,
Rosenberg C and Ribeiro-Bicudo LA: Chromothripsis with at least 12
breaks at 1p36.33-p35.3 in a boy with multiple congenital
anomalies. Mol Genet Genomics. 290:2213–2216. 2015.PubMed/NCBI View Article : Google Scholar
|
|
43
|
van Heesch S, Simonis M, van Roosmalen MJ,
Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK,
Menelaou A, et al: Genomic and functional overlap between somatic
and germline chromosomal rearrangements. Cell Rep. 9:2001–2010.
2014.PubMed/NCBI View Article : Google Scholar
|
|
44
|
de Pagter MS, van Roosmalen MJ, Baas AF,
Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M,
Hochstenbach R, van der Veken LT, Cuppen E and Kloosterman WP:
Chromothripsis in healthy individuals affects multiple
protein-coding genes and can result in severe congenital
abnormalities in offspring. Am J Hum Genet. 96:651–656.
2015.PubMed/NCBI View Article : Google Scholar
|
|
45
|
Bertelsen B, Nazaryan-Petersen L, Sun W,
Mehrjouy MM, Xie G, Chen W, Hjermind LE, Taschner PE and Tümer Z: A
germline chromothripsis event stably segregating in 11 individuals
through three generations. Genet Med. 18:494–500. 2016.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Chiang C, Jacobsen JC, Ernst C, Hanscom C,
Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger
SR, et al: Complex reorganization and predominant non-homologous
repair following chromosomal breakage in karyotypically balanced
germline rearrangements and transgenic integration. Nat Genet.
44:390–397, S1. 2012.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Nazaryan-Petersen L, Eisfeldt J,
Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L,
Ottosson J, Gacic J, et al: Replicative and non-replicative
mechanisms in the formation of clustered CNVs are indicated by
whole genome characterization. PLoS Genet.
14(e1007780)2018.PubMed/NCBI View Article : Google Scholar
|
|
48
|
Pettersson M, Eisfeldt J, Syk Lundberg E,
Lundin J and Lindstrand A: Flanking complex copy number variants in
the same family formed through unequal crossing-over during
meiosis. Mutat Res. 812:1–4. 2018.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Slamova Z, Nazaryan-Petersen L, Mehrjouy
MM, Drabova J, Hancarova M, Marikova T, Novotna D, Vlckova M,
Vlckova Z, Bak M, et al: Very short DNA segments can be detected
and handled by the repair machinery during germline chromothriptic
chromosome reassembly. Hum Mutat. 39:709–716. 2018.PubMed/NCBI View Article : Google Scholar
|
|
50
|
Liu P, Erez A, Nagamani SC, Dhar SU,
Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang
F, Withers MA, et al: Chromosome catastrophes involve replication
mechanisms generating complex genomic rearrangements. Cell.
146:889–903. 2011.PubMed/NCBI View Article : Google Scholar
|
|
51
|
Pellestor F (ed): Chromothripsis. Methods
and Protocols. Humana Press, Montpellier, Hérault, pp11-367,
2018.
|
