当前位置： SCI文献检索 > Cell Reports期刊下所有文献 > Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Abstract：

:Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements.

journal_name

Cell Rep

journal_title

Cell reports

authors

Kloosterman WP,Tavakoli-Yaraki M,van Roosmalen MJ,van Binsbergen E,Renkens I,Duran K,Ballarati L,Vergult S,Giardino D,Hansson K,Ruivenkamp CA,Jager M,van Haeringen A,Ippel EF,Haaf T,Passarge E,Hochstenbach R,Menten B,

doi

10.1016/j.celrep.2012.05.009

subject

Has Abstract

pub_date

2012-06-28 00:00:00

pages

648-55

issue

6

issn

2211-1247

pii

S2211-1247(12)00134-9

journal_volume

1

pub_type

杂志文章

相关文献

Cell Reports文献大全
  • In Vivo Functional Mapping of a Cortical Column at Single-Neuron Resolution.

    abstract：:The cerebral cortex is organized in vertical columns that contain neurons with similar functions. The cellular micro-architecture of such columns is an essential determinant of brain dynamics and cortical information processing. However, a detailed understanding of columns is incomplete, even in the best studied corti...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2019.04.007

    authors： Tischbirek CH,Noda T,Tohmi M,Birkner A,Nelken I,Konnerth A

    更新日期：2019-04-30 00:00:00

  • PARTICLE, a Triplex-Forming Long ncRNA, Regulates Locus-Specific Methylation in Response to Low-Dose Irradiation.

    abstract：:Exposure to low-dose irradiation causes transiently elevated expression of the long ncRNA PARTICLE (gene PARTICLE, promoter of MAT2A-antisense radiation-induced circulating lncRNA). PARTICLE affords both a cytosolic scaffold for the tumor suppressor methionine adenosyltransferase (MAT2A) and a nuclear genetic platform...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2015.03.043

    authors： O'Leary VB,Ovsepian SV,Carrascosa LG,Buske FA,Radulovic V,Niyazi M,Moertl S,Trau M,Atkinson MJ,Anastasov N

    更新日期：2015-04-21 00:00:00

  • Mutual Zonated Interactions of Wnt and Hh Signaling Are Orchestrating the Metabolism of the Adult Liver in Mice and Human.

    abstract：:The Hedgehog (Hh) and Wnt/β-Catenin (Wnt) cascades are morphogen pathways whose pronounced influence on adult liver metabolism has been identified in recent years. How both pathways communicate and control liver metabolic functions are largely unknown. Detecting core components of Wnt and Hh signaling and mathematical...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2019.11.104

    authors： Kolbe E,Aleithe S,Rennert C,Spormann L,Ott F,Meierhofer D,Gajowski R,Stöpel C,Hoehme S,Kücken M,Brusch L,Seifert M,von Schoenfels W,Schafmayer C,Brosch M,Hofmann U,Damm G,Seehofer D,Hampe J,Gebhardt R,Matz-Soja M

    更新日期：2019-12-24 00:00:00

  • FOXO/DAF-16 Activation Slows Down Turnover of the Majority of Proteins in C. elegans.

    abstract：:Most aging hypotheses assume the accumulation of damage, resulting in gradual physiological decline and, ultimately, death. Avoiding protein damage accumulation by enhanced turnover should slow down the aging process and extend the lifespan. However, lowering translational efficiency extends rather than shortens the l...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2016.07.088

    authors： Dhondt I,Petyuk VA,Cai H,Vandemeulebroucke L,Vierstraete A,Smith RD,Depuydt G,Braeckman BP

    更新日期：2016-09-13 00:00:00

  • Disconnecting mitochondrial content from respiratory chain capacity in PGC-1-deficient skeletal muscle.

    abstract：:The transcriptional coactivators PGC-1α and PGC-1β are widely thought to be required for mitochondrial biogenesis and fiber typing in skeletal muscle. Here, we show that mice lacking both PGC-1s in myocytes do indeed have profoundly deficient mitochondrial respiration but, surprisingly, have preserved mitochondrial co...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2013.04.023

    authors： Rowe GC,Patten IS,Zsengeller ZK,El-Khoury R,Okutsu M,Bampoh S,Koulisis N,Farrell C,Hirshman MF,Yan Z,Goodyear LJ,Rustin P,Arany Z

    更新日期：2013-05-30 00:00:00

  • The Zinc Finger Transcription Factor Sp9 Is Required for the Development of Striatopallidal Projection Neurons.

    abstract：:Striatal medium-sized spiny neurons (MSNs), composed of striatonigral and striatopallidal neurons, are derived from the lateral ganglionic eminence (LGE). We find that the transcription factor Sp9 is expressed in LGE progenitors that generate nearly all striatal MSNs and that Sp9 expression is maintained in postmitoti...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2016.06.090

    authors： Zhang Q,Zhang Y,Wang C,Xu Z,Liang Q,An L,Li J,Liu Z,You Y,He M,Mao Y,Chen B,Xiong ZQ,Rubenstein JL,Yang Z

    更新日期：2016-08-02 00:00:00

  • Elucidating sources and roles of granzymes A and B during bacterial infection and sepsis.

    abstract：:During bacterial sepsis, proinflammatory cytokines contribute to multiorgan failure and death in a process regulated in part by cytolytic cell granzymes. When challenged with a sublethal dose of the identified mouse pathogen Brucella microti, wild-type (WT) and granzyme A (gzmA)(-/-) mice eliminate the organism from l...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2014.06.012

    authors： Arias MA,Jiménez de Bagües MP,Aguiló N,Menao S,Hervás-Stubbs S,de Martino A,Alcaraz A,Simon MM,Froelich CJ,Pardo J

    更新日期：2014-07-24 00:00:00

  • The Coding Regions of Germline mRNAs Confer Sensitivity to Argonaute Regulation in C. elegans.

    abstract：:Protein-coding genes undergo a wide array of regulatory interactions with factors that engage non-coding regions. Open reading frames (ORFs), in contrast, are thought to be constrained by coding function, precluding a major role in gene regulation. Here, we explore Piwi-interacting (pi)RNA-mediated transgene silencing...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2018.02.009

    authors： Seth M,Shirayama M,Tang W,Shen EZ,Tu S,Lee HC,Weng Z,Mello CC

    更新日期：2018-02-27 00:00:00

  • Activation of CDK4 Triggers Development of Non-alcoholic Fatty Liver Disease.

    abstract：:The development of non-alcoholic fatty liver disease (NAFLD) is a multiple step process. Here, we show that activation of cdk4 triggers the development of NAFLD. We found that cdk4 protein levels are elevated in mouse models of NAFLD and in patients with fatty livers. This increase leads to C/EBPα phosphorylation on S...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2016.06.019

    authors： Jin J,Valanejad L,Nguyen TP,Lewis K,Wright M,Cast A,Stock L,Timchenko L,Timchenko NA

    更新日期：2016-07-19 00:00:00

  • Importin α and vNEBD Control Meiotic Spindle Disassembly in Fission Yeast.

    abstract：:In metazoans, the nuclear envelope (NE) breakdown (NEBD) occurs during "open" mitosis and meiosis. In the fission yeast Schizosaccharomyces pombe, the mitosis and the first meiotic division (MI) are "closed," during which the NE is maintained. Intriguingly, during the second meiotic division (MII), the NE is also main...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2018.03.073

    authors： Flor-Parra I,Iglesias-Romero AB,Salas-Pino S,Lucena R,Jimenez J,Daga RR

    更新日期：2018-04-24 00:00:00

  • Host AMPK Is a Modulator of Plasmodium Liver Infection.

    abstract：:Manipulation of the master regulator of energy homeostasis AMP-activated protein kinase (AMPK) activity is a strategy used by many intracellular pathogens for successful replication. Infection by most pathogens leads to an activation of host AMPK activity due to the energetic demands placed on the infected cell. Here,...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2016.08.001

    authors： Ruivo MTG,Vera IM,Sales-Dias J,Meireles P,Gural N,Bhatia SN,Mota MM,Mancio-Silva L

    更新日期：2016-09-06 00:00:00

  • Hunger Potentiates the Habenular Winner Pathway for Social Conflict by Orexin-Promoted Biased Alternative Splicing of the AMPA Receptor Gene.

    abstract：:Many animals fight for dominance between conspecifics. Because winners could obtain more resources than losers, fighting outcomes are important for the animal's survival, especially in a situation with insufficient resources, such as hunger. However, it remains unclear whether and how hunger affects fighting outcomes....

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2020.107790

    authors： Nakajo H,Chou MY,Kinoshita M,Appelbaum L,Shimazaki H,Tsuboi T,Okamoto H

    更新日期：2020-06-23 00:00:00

  • Overexpression of Trophoblast Stem Cell-Enriched MicroRNAs Promotes Trophoblast Fate in Embryonic Stem Cells.

    abstract：:The first cell fate choice of the preimplantation embryo generates the extraembryonic trophoblast and embryonic epiblast lineages. Embryonic stem cells (ESCs) and trophoblast stem cells (TSCs) can be utilized to investigate molecular mechanisms of this first cell fate decision. It has been established that ESCs can be...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2017.04.040

    authors： Nosi U,Lanner F,Huang T,Cox B

    更新日期：2017-05-09 00:00:00

  • T-Bet+ IgM Memory Cells Generate Multi-lineage Effector B Cells.

    abstract：:Immunoglobulin M (IgM) memory cells undergo differentiation in germinal centers following antigen challenge, but the full effector cell potential of these cells is unknown. We monitored the differentiation of enhanced yellow fluorescent protein (eYFP)-labeled CD11c+ and CD11cneg T-bet+ IgM memory cells after their tra...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2018.06.074

    authors： Kenderes KJ,Levack RC,Papillion AM,Cabrera-Martinez B,Dishaw LM,Winslow GM

    更新日期：2018-07-24 00:00:00

  • Interactome of two diverse RNA granules links mRNA localization to translational repression in neurons.

    abstract：:Transport of RNAs to dendrites occurs in neuronal RNA granules, which allows local synthesis of specific proteins at active synapses on demand, thereby contributing to learning and memory. To gain insight into the machinery controlling dendritic mRNA localization and translation, we established a stringent protocol to...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2013.11.023

    authors： Fritzsche R,Karra D,Bennett KL,Ang FY,Heraud-Farlow JE,Tolino M,Doyle M,Bauer KE,Thomas S,Planyavsky M,Arn E,Bakosova A,Jungwirth K,Hörmann A,Palfi Z,Sandholzer J,Schwarz M,Macchi P,Colinge J,Superti-Furga G,Kiebl

    更新日期：2013-12-26 00:00:00

  • SUMOylation of Psmd1 controls Adrm1 interaction with the proteasome.

    abstract：:SUMOylation is the covalent conjugation of SUMO polypeptides to cellular target proteins. Psmd1 is a subunit of the proteasomal 19S regulatory particle that acts as a docking site for Adrm1, another proteasome subunit that recruits ubiquitinated substrates for proteolysis. Here, we show that the SUMO deconjugating enz...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2014.05.009

    authors： Ryu H,Gygi SP,Azuma Y,Arnaoutov A,Dasso M

    更新日期：2014-06-26 00:00:00

  • Interferon Regulatory Factors IRF1 and IRF7 Directly Regulate Gene Expression in Bats in Response to Viral Infection.

    abstract：:Bat cells and tissue have elevated basal expression levels of antiviral genes commonly associated with interferon alpha (IFNα) signaling. Here, we show Interferon Regulatory Factor 1 (IRF1), 3, and 7 levels are elevated in most bat tissues and that, basally, IRFs contribute to the expression of type I IFN ligands and ...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2020.108345

    authors： Irving AT,Zhang Q,Kong PS,Luko K,Rozario P,Wen M,Zhu F,Zhou P,Ng JHJ,Sobota RM,Wang LF

    更新日期：2020-11-03 00:00:00

  • Oxysterol-Binding Protein-Related Protein 1L Regulates Cholesterol Egress from the Endo-Lysosomal System.

    abstract：:Lipoprotein cholesterol is delivered to the limiting membrane of late endosomes/lysosomes (LELs) by Niemann-Pick C1 (NPC1). However, the mechanism of cholesterol transport from LELs to the endoplasmic reticulum (ER) is poorly characterized. We report that oxysterol-binding protein-related protein 1L (ORP1L) is necessa...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2017.05.028

    authors： Zhao K,Ridgway ND

    更新日期：2017-05-30 00:00:00

  • Apolipoprotein E Regulates Amyloid Formation within Endosomes of Pigment Cells.

    abstract：:Accumulation of toxic amyloid oligomers is a key feature in the pathogenesis of amyloid-related diseases. Formation of mature amyloid fibrils is one defense mechanism to neutralize toxic prefibrillar oligomers. This mechanism is notably influenced by apolipoprotein E variants. Cells that produce mature amyloid fibrils...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2015.08.057

    authors： van Niel G,Bergam P,Di Cicco A,Hurbain I,Lo Cicero A,Dingli F,Palmulli R,Fort C,Potier MC,Schurgers LJ,Loew D,Levy D,Raposo G

    更新日期：2015-10-06 00:00:00

  • Presenilin deficiency or lysosomal inhibition enhances Wnt signaling through relocalization of GSK3 to the late-endosomal compartment.

    abstract：:Sustained canonical Wnt signaling requires the inhibition of glycogen synthase kinase 3 (GSK3) activity by sequestration of GSK3 inside multivesicular endosomes (MVEs). Here, we show that Wnt signaling is increased by the lysosomal inhibitor chloroquine, which causes accumulation of MVEs. A similar MVE expansion and i...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2012.09.026

    authors： Dobrowolski R,Vick P,Ploper D,Gumper I,Snitkin H,Sabatini DD,De Robertis EM

    更新日期：2012-11-29 00:00:00

  • The immunodominant and neutralization linear epitopes for SARS-CoV-2.

    abstract：:Although vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are under development, the antigen epitopes on the virus and their immunogenicity are poorly understood. Here, we simulate the 3D structures and predict the B cell epitopes on the spike (S), envelope (E), membrane (M), and nucleocap...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2020.108666

    authors： Lu S,Xie XX,Zhao L,Wang B,Zhu J,Yang TR,Yang GW,Ji M,Lv CP,Xue J,Dai EH,Fu XM,Liu DQ,Zhang L,Hou SJ,Yu XL,Wang YL,Gao HX,Shi XH,Ke CW,Ke BX,Jiang CG,Liu RT

    更新日期：2021-01-26 00:00:00

  • The CoQH2/CoQ Ratio Serves as a Sensor of Respiratory Chain Efficiency.

    abstract：:Electrons feed into the mitochondrial electron transport chain (mETC) from NAD- or FAD-dependent enzymes. A shift from glucose to fatty acids increases electron flux through FAD, which can saturate the oxidation capacity of the dedicated coenzyme Q (CoQ) pool and result in the generation of reactive oxygen species. To...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2016.03.009

    authors： Guarás A,Perales-Clemente E,Calvo E,Acín-Pérez R,Loureiro-Lopez M,Pujol C,Martínez-Carrascoso I,Nuñez E,García-Marqués F,Rodríguez-Hernández MA,Cortés A,Diaz F,Pérez-Martos A,Moraes CT,Fernández-Silva P,Trifunovic A,Navas

    更新日期：2016-04-05 00:00:00

  • GPS2 Deficiency Triggers Maladaptive White Adipose Tissue Expansion in Obesity via HIF1A Activation.

    abstract：:Hypertrophic white adipose tissue (WAT) represents a maladaptive mechanism linked to the risk for developing type 2 diabetes in humans. However, the molecular events that predispose WAT to hypertrophy are poorly defined. Here, we demonstrate that adipocyte hypertrophy is triggered by loss of the corepressor GPS2 durin...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2018.08.032

    authors： Drareni K,Ballaire R,Barilla S,Mathew MJ,Toubal A,Fan R,Liang N,Chollet C,Huang Z,Kondili M,Foufelle F,Soprani A,Roussel R,Gautier JF,Alzaid F,Treuter E,Venteclef N

    更新日期：2018-09-11 00:00:00

  • Microglia Suppress Ascl1-Induced Retinal Regeneration in Mice.

    abstract：:The innate immune system plays key roles in tissue regeneration. For example, microglia promote neurogenesis in Müller glia in birds and fish after injury. Although mammalian retina does not normally regenerate, neurogenesis can be induced in mouse Müller glia by Ascl1, a proneural transcription factor. We show that i...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2020.108507

    authors： Todd L,Finkbeiner C,Wong CK,Hooper MJ,Reh TA

    更新日期：2020-12-15 00:00:00

  • Flow Dynamics and HSPC Homing in Bone Marrow Microvessels.

    abstract：:Measurements of flow velocities at the level of individual arterial vessels and sinusoidal capillaries are crucial for understanding the dynamics of hematopoietic stem and progenitor cell homing in the bone marrow vasculature. We have developed two complementary intravital two-photon imaging approaches to determine bl...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2017.01.042

    authors： Bixel MG,Kusumbe AP,Ramasamy SK,Sivaraj KK,Butz S,Vestweber D,Adams RH

    更新日期：2017-02-14 00:00:00

  • Sox9-Meis1 Inactivation Is Required for Adipogenesis, Advancing Pref-1+ to PDGFRα+ Cells.

    abstract：:Adipocytes arise from the commitment and differentiation of adipose precursors in white adipose tissue (WAT). In studying adipogenesis, precursor markers, including Pref-1 and PDGFRα, are used to isolate precursors from stromal vascular fractions of WAT, but the relation among the markers is not known. Here, we used t...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2018.09.086

    authors： Gulyaeva O,Nguyen H,Sambeat A,Heydari K,Sul HS

    更新日期：2018-10-23 00:00:00

  • Increasing MuSK activity delays denervation and improves motor function in ALS mice.

    abstract：:Amyotrophic lateral sclerosis (ALS) is a devastating disease that progresses from detachment of motor nerve terminals to complete muscle paralysis and lethal respiratory failure within 5 years of diagnosis. Genetic studies have linked mutations in several genes to ALS, and mice bearing mutations in SOD1 recapitulate h...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2012.08.004

    authors： Pérez-García MJ,Burden SJ

    更新日期：2012-09-27 00:00:00

  • DNA copy-number control through inhibition of replication fork progression.

    abstract：:Proper control of DNA replication is essential to ensure faithful transmission of genetic material and prevent chromosomal aberrations that can drive cancer progression and developmental disorders. DNA replication is regulated primarily at the level of initiation and is under strict cell-cycle regulation. Importantly,...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2014.10.005

    authors： Nordman JT,Kozhevnikova EN,Verrijzer CP,Pindyurin AV,Andreyeva EN,Shloma VV,Zhimulev IF,Orr-Weaver TL

    更新日期：2014-11-06 00:00:00

  • Comprehensive Molecular Characterization of the Hippo Signaling Pathway in Cancer.

    abstract：:Hippo signaling has been recognized as a key tumor suppressor pathway. Here, we perform a comprehensive molecular characterization of 19 Hippo core genes in 9,125 tumor samples across 33 cancer types using multidimensional "omic" data from The Cancer Genome Atlas. We identify somatic drivers among Hippo genes and the ...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2018.10.001

    authors： Wang Y,Xu X,Maglic D,Dill MT,Mojumdar K,Ng PK,Jeong KJ,Tsang YH,Moreno D,Bhavana VH,Peng X,Ge Z,Chen H,Li J,Chen Z,Zhang H,Han L,Du D,Creighton CJ,Mills GB,Cancer Genome Atlas Research Network.,Camargo F,Liang

    更新日期：2018-10-30 00:00:00

  • Actin Assembly around the Shigella-Containing Vacuole Promotes Successful Infection.

    abstract：:The enteroinvasive bacterium Shigella flexneri forces its uptake into non-phagocytic host cells through the translocation of T3SS effectors that subvert the actin cytoskeleton. Here, we report de novo actin polymerization after cellular entry around the bacterium-containing vacuole (BCV) leading to the formation of a ...

    journal_title：Cell reports

    pub_type： 杂志文章

    doi：10.1016/j.celrep.2020.107638

    authors： Kühn S,Bergqvist J,Gil M,Valenzuela C,Barrio L,Lebreton S,Zurzolo C,Enninga J

    更新日期：2020-05-12 00:00:00