Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure.

Abstract:

:Double minutes (dmin) and homogeneously staining regions (hsr) are the cytogenetic hallmarks of genomic amplification in cancer. Different mechanisms have been proposed to explain their genesis. Recently, our group showed that the MYC-containing dmin in leukemia cases arise by excision and amplification (episome model). In the present paper we investigated 10 cell lines from solid tumors showing MYCN amplification as dmin or hsr. Particularly revealing results were provided by the two subclones of the neuroblastoma cell line STA-NB-10, one showing dmin-only and the second hsr-only amplification. Both subclones showed a deletion, at 2p24.3, whose extension matched the amplicon extension. Additionally, the amplicon structure of the dmin and hsr forms was identical. This strongly argues that the episome model, already demonstrated in leukemias, applies to solid tumors as well, and that dmin and hsr are two faces of the same coin. The organization of the duplicated segments varied from very simple (no apparent changes from the normal sequence) to very complex. MYCN was always overexpressed (significantly overexpressed in three cases). The fusion junctions, always mediated by nonhomologous end joining, occasionally juxtaposed truncated genes in the same transcriptional orientation. Fusion transcripts involving NBAS (also known as NAG), FAM49A, BC035112 (also known as NCRNA00276), and SMC6 genes were indeed detected, although their role in the context of the tumor is not clear.

journal_name

Genome Res

journal_title

Genome research

authors

Storlazzi CT,Lonoce A,Guastadisegni MC,Trombetta D,D'Addabbo P,Daniele G,L'Abbate A,Macchia G,Surace C,Kok K,Ullmann R,Purgato S,Palumbo O,Carella M,Ambros PF,Rocchi M

doi

10.1101/gr.106252.110

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

1198-206

issue

9

eissn

1088-9051

issn

1549-5469

pii

gr.106252.110

journal_volume

20

pub_type

杂志文章
  • Meiotic recombination generates rich diversity in NK cell receptor genes, alleles, and haplotypes.

    abstract::Natural killer (NK) cells contribute to the essential functions of innate immunity and reproduction. Various genes encode NK cell receptors that recognize the major histocompatibility complex (MHC) Class I molecules expressed by other cells. For primate NK cells, the killer-cell immunoglobulin-like receptors (KIR) are...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.085738.108

    authors: Norman PJ,Abi-Rached L,Gendzekhadze K,Hammond JA,Moesta AK,Sharma D,Graef T,McQueen KL,Guethlein LA,Carrington CV,Chandanayingyong D,Chang YH,Crespí C,Saruhan-Direskeneli G,Hameed K,Kamkamidze G,Koram KA,Layrisse Z,Ma

    更新日期:2009-05-01 00:00:00

  • Bacterial genomes as new gene homes: the genealogy of ORFans in E. coli.

    abstract::Differences in gene repertoire among bacterial genomes are usually ascribed to gene loss or to lateral gene transfer from unrelated cellular organisms. However, most bacteria contain large numbers of ORFans, that is, annotated genes that are restricted to a particular genome and that possess no known homologs. The uni...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.2231904

    authors: Daubin V,Ochman H

    更新日期:2004-06-01 00:00:00

  • Asymmetric nucleosomes flank promoters in the budding yeast genome.

    abstract::Nucleosomes in active chromatin are dynamic, but whether they have distinct structural conformations is unknown. To identify nucleosomes with alternative structures genome-wide, we used H4S47C-anchored cleavage mapping, which revealed that 5% of budding yeast (Saccharomyces cerevisiae) nucleosome positions have asymme...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.182618.114

    authors: Ramachandran S,Zentner GE,Henikoff S

    更新日期:2015-03-01 00:00:00

  • Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs.

    abstract::Fetal liver intriguingly consists of hepatic parenchymal cells and hematopoietic stem/progenitor cells. Human fetal liver aged 22 wk of gestation (HFL22w) corresponds to the turning point between immigration and emigration of the hematopoietic system. To gain further molecular insight into its developmental and functi...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.175501

    authors: Yu Y,Zhang C,Zhou G,Wu S,Qu X,Wei H,Xing G,Dong C,Zhai Y,Wan J,Ouyang S,Li L,Zhang S,Zhou K,Zhang Y,Wu C,He F

    更新日期:2001-08-01 00:00:00

  • Integrated annotations and analyses of small RNA-producing loci from 47 diverse plants.

    abstract::Plant endogenous small RNAs (sRNAs) are important regulators of gene expression. There are two broad categories of plant sRNAs: microRNAs (miRNAs) and endogenous short interfering RNAs (siRNAs). MicroRNA loci are relatively well-annotated but compose only a small minority of the total sRNA pool; siRNA locus annotation...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.256750.119

    authors: Lunardon A,Johnson NR,Hagerott E,Phifer T,Polydore S,Coruh C,Axtell MJ

    更新日期:2020-03-01 00:00:00

  • Deterministic protein inference for shotgun proteomics data provides new insights into Arabidopsis pollen development and function.

    abstract::Pollen, the male gametophyte of flowering plants, represents an ideal biological system to study developmental processes, such as cell polarity, tip growth, and morphogenesis. Upon hydration, the metabolically quiescent pollen rapidly switches to an active state, exhibiting extremely fast growth. This rapid switch req...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.089060.108

    authors: Grobei MA,Qeli E,Brunner E,Rehrauer H,Zhang R,Roschitzki B,Basler K,Ahrens CH,Grossniklaus U

    更新日期:2009-10-01 00:00:00

  • Inferring tumor progression from genomic heterogeneity.

    abstract::Cancer progression in humans is difficult to infer because we do not routinely sample patients at multiple stages of their disease. However, heterogeneous breast tumors provide a unique opportunity to study human tumor progression because they still contain evidence of early and intermediate subpopulations in the form...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.099622.109

    authors: Navin N,Krasnitz A,Rodgers L,Cook K,Meth J,Kendall J,Riggs M,Eberling Y,Troge J,Grubor V,Levy D,Lundin P,Månér S,Zetterberg A,Hicks J,Wigler M

    更新日期:2010-01-01 00:00:00

  • Population genomics in a disease targeted primary cell model.

    abstract::The common genetic variants associated with complex traits typically lie in noncoding DNA and may alter gene regulation in a cell type-specific manner. Consequently, the choice of tissue or cell model in the dissection of disease associations is important. We carried out an expression quantitative trait loci (eQTL) st...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.095224.109

    authors: Grundberg E,Kwan T,Ge B,Lam KC,Koka V,Kindmark A,Mallmin H,Dias J,Verlaan DJ,Ouimet M,Sinnett D,Rivadeneira F,Estrada K,Hofman A,van Meurs JM,Uitterlinden A,Beaulieu P,Graziani A,Harmsen E,Ljunggren O,Ohlsson C,

    更新日期:2009-11-01 00:00:00

  • Convergent origination of a Drosophila-like dosage compensation mechanism in a reptile lineage.

    abstract::Sex chromosomes differentiated from different ancestral autosomes in various vertebrate lineages. Here, we trace the functional evolution of the XY Chromosomes of the green anole lizard (Anolis carolinensis), on the basis of extensive high-throughput genome, transcriptome and histone modification sequencing data and r...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.223727.117

    authors: Marin R,Cortez D,Lamanna F,Pradeepa MM,Leushkin E,Julien P,Liechti A,Halbert J,Brüning T,Mössinger K,Trefzer T,Conrad C,Kerver HN,Wade J,Tschopp P,Kaessmann H

    更新日期:2017-12-01 00:00:00

  • Genomics and hearing impairment.

    abstract::Hearing impairment is clinically and genetically heterogeneous. There are >400 disorders in which hearing impairment is a characteristic of the syndrome, and family studies demonstrate that there are at least 30 autosomal loci for nonsyndromic hearing impairment. The genes that have been identified encode diaphanous (...

    journal_title:Genome research

    pub_type: 历史文章,杂志文章,评审

    doi:

    authors: Keats BJ,Berlin CI

    更新日期:1999-01-01 00:00:00

  • Multiparameter functional diversity of human C2H2 zinc finger proteins.

    abstract::C2H2 zinc finger proteins represent the largest and most enigmatic class of human transcription factors. Their C2H2-ZF arrays are highly variable, indicating that most will have unique DNA binding motifs. However, most of the binding motifs have not been directly determined. In addition, little is known about whether ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.209643.116

    authors: Schmitges FW,Radovani E,Najafabadi HS,Barazandeh M,Campitelli LF,Yin Y,Jolma A,Zhong G,Guo H,Kanagalingam T,Dai WF,Taipale J,Emili A,Greenblatt JF,Hughes TR

    更新日期:2016-12-01 00:00:00

  • Identification of complex genomic rearrangements in cancers using CouGaR.

    abstract::The genomic alterations associated with cancers are numerous and varied, involving both isolated and large-scale complex genomic rearrangements (CGRs). Although the underlying mechanisms are not well understood, CGRs have been implicated in tumorigenesis. Here, we introduce CouGaR, a novel method for characterizing th...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.211201.116

    authors: Dzamba M,Ramani AK,Buczkowicz P,Jiang Y,Yu M,Hawkins C,Brudno M

    更新日期:2017-01-01 00:00:00

  • WebLogo: a sequence logo generator.

    abstract::WebLogo generates sequence logos, graphical representations of the patterns within a multiple sequence alignment. Sequence logos provide a richer and more precise description of sequence similarity than consensus sequences and can rapidly reveal significant features of the alignment otherwise difficult to perceive. Ea...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.849004

    authors: Crooks GE,Hon G,Chandonia JM,Brenner SE

    更新日期:2004-06-01 00:00:00

  • A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines.

    abstract::Gene expression levels can be an important link DNA between variation and phenotypic manifestations. Our previous map of global gene expression, based on ~400K single nucleotide polymorphisms (SNPs) and 50K transcripts in 400 sib pairs from the MRCA family panel, has been widely used to interpret the results of genome...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.142521.112

    authors: Liang L,Morar N,Dixon AL,Lathrop GM,Abecasis GR,Moffatt MF,Cookson WO

    更新日期:2013-04-01 00:00:00

  • General gene movement off the X chromosome in the Drosophila genus.

    abstract::In Drosophila melanogaster, there is an excess of genes duplicated by retroposition from the X chromosome to the autosomes. Most of those retrogenes that originated on the X chromosome have testis expression pattern. These observations could be explained by natural selection favoring genes that avoided spermatogenesis...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.088609.108

    authors: Vibranovski MD,Zhang Y,Long M

    更新日期:2009-05-01 00:00:00

  • Genome function and nuclear architecture: from gene expression to nanoscience.

    abstract::Biophysical, chemical, and nanoscience approaches to the study of nuclear structure and activity have been developing recently and hold considerable promise. A selection of fundamental problems in genome organization and function are reviewed and discussed in the context of these new perspectives and approaches. Advan...

    journal_title:Genome research

    pub_type: 杂志文章,评审

    doi:10.1101/gr.946403

    authors: O'Brien TP,Bult CJ,Cremer C,Grunze M,Knowles BB,Langowski J,McNally J,Pederson T,Politz JC,Pombo A,Schmahl G,Spatz JP,van Driel R

    更新日期:2003-06-01 00:00:00

  • A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations.

    abstract::The allele fraction (AF) distribution, occurrence rate, and evolutionary contribution of postzygotic single-nucleotide mosaicisms (pSNMs) remain largely unknown. In this study, we developed a mathematical model to describe the accumulation and AF drift of pSNMs during the development of multicellular organisms. By app...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.230003.117

    authors: Ye AY,Dou Y,Yang X,Wang S,Huang AY,Wei L

    更新日期:2018-07-01 00:00:00

  • The region surrounding the PKD1 gene: a 700-kb P1 contig from a YAC-deficient interval.

    abstract::As part of an effort to identify the gene responsible for the predominant form of polycystic kidney disease (PKD1), we used a gridded human P1 library for contig assembly. The interval of interest, a 700-kb segment on chromosome 16p13.3, can be physically delineated by the genetic markers D16S125 and D16S84 and chromo...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.6.6.515

    authors: Dackowski WR,Connors TD,Bowe AE,Stanton V Jr,Housman D,Doggett NA,Landes GM,Klinger KW

    更新日期:1996-06-01 00:00:00

  • Nucleosome occupancy as a novel chromatin parameter for replication origin functions.

    abstract::Eukaryotic DNA replication initiates from multiple discrete sites in the genome, termed origins of replication (origins). Prior to S phase, multiple origins are poised to initiate replication by recruitment of the pre-replicative complex (pre-RC). For proper replication to occur, origin activation must be tightly regu...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.209940.116

    authors: Rodriguez J,Lee L,Lynch B,Tsukiyama T

    更新日期:2017-02-01 00:00:00

  • Global analysis of protein homomerization in Saccharomyces cerevisiae.

    abstract::In vivo analyses of the occurrence, subcellular localization, and dynamics of protein-protein interactions (PPIs) are important issues in functional proteomic studies. The bimolecular fluorescence complementation (BiFC) assay has many advantages in that it provides a reliable way to detect PPIs in living cells with mi...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.231860.117

    authors: Kim Y,Jung JP,Pack CG,Huh WK

    更新日期:2019-01-01 00:00:00

  • Arabidopsis thaliana centromere regions: genetic map positions and repetitive DNA structure.

    abstract::The genetic positions of the five Arabidopsis thaliana centromere regions have been identified by mapping size polymorphisms in the centromeric 180-bp repeat arrays. Structural and genetic analysis indicates that 180-bp repeat arrays of up to 1000 kb are found in the centromere region of each chromosome. The genetic b...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.7.11.1045

    authors: Round EK,Flowers SK,Richards EJ

    更新日期:1997-11-01 00:00:00

  • Comparative analysis of gene-expression patterns in human and African great ape cultured fibroblasts.

    abstract::Although much is known about genetic variation in human and African great ape (chimpanzee, bonobo, and gorilla) genomes, substantially less is known about variation in gene-expression profiles within and among these species. This information is necessary for defining transcriptional regulatory networks that contribute...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.1289803

    authors: Karaman MW,Houck ML,Chemnick LG,Nagpal S,Chawannakul D,Sudano D,Pike BL,Ho VV,Ryder OA,Hacia JG

    更新日期:2003-07-01 00:00:00

  • CADLIVE dynamic simulator: direct link of biochemical networks to dynamic models.

    abstract::We have developed the CADLIVE (Computer-Aided Design of LIVing systEms) Simulator that provided a rule-based automatic way to convert biochemical network maps into dynamic models, which enables simulating their dynamics without going through all of the reactions down to the details of exact kinetic parameters. The sim...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.3463705

    authors: Kurata H,Masaki K,Sumida Y,Iwasaki R

    更新日期:2005-04-01 00:00:00

  • Genome-wide mapping of human DNA-replication origins: levels of transcription at ORC1 sites regulate origin selection and replication timing.

    abstract::We report the genome-wide mapping of ORC1 binding sites in mammals, by chromatin immunoprecipitation and parallel sequencing (ChIP-seq). ORC1 binding sites in HeLa cells were validated as active DNA replication origins (ORIs) using Repli-seq, a method that allows identification of ORI-containing regions by parallel se...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.142331.112

    authors: Dellino GI,Cittaro D,Piccioni R,Luzi L,Banfi S,Segalla S,Cesaroni M,Mendoza-Maldonado R,Giacca M,Pelicci PG

    更新日期:2013-01-01 00:00:00

  • The extensive and condition-dependent nature of epistasis among whole-genome duplicates in yeast.

    abstract::Since complete redundancy between extant duplicates (paralogs) is evolutionarily unfavorable, some degree of functional congruency is eventually lost. However, in budding yeast, experimental evidence collected for duplicated metabolic enzymes and in global physical interaction surveys had suggested widespread function...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.076174.108

    authors: Musso G,Costanzo M,Huangfu M,Smith AM,Paw J,San Luis BJ,Boone C,Giaever G,Nislow C,Emili A,Zhang Z

    更新日期:2008-07-01 00:00:00

  • Sequencing of cDNA clones from the genetic map of tomato (Lycopersicon esculentum).

    abstract::The dense RFLP linkage map of tomato (Lycopersicon esculentum) contains >300 anonymous cDNA clones. Of those clones, 272 were partially or completely sequenced. The sequences were compared at the DNA and protein level to known genes in databases. For 57% of the clones, a significant match to previously described genes...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.8.8.842

    authors: Ganal MW,Czihal R,Hannappel U,Kloos DU,Polley A,Ling HQ

    更新日期:1998-08-01 00:00:00

  • A positive but complex association between meiotic double-strand break hotspots and open chromatin in Saccharomyces cerevisiae.

    abstract::During meiosis, chromatin undergoes extensive changes to facilitate recombination, homolog pairing, and chromosome segregation. To investigate the relationship between chromatin organization and meiotic processes, we used formaldehyde-assisted isolation of regulatory elements (FAIRE) to map open chromatin during the t...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.096297.109

    authors: Berchowitz LE,Hanlon SE,Lieb JD,Copenhaver GP

    更新日期:2009-12-01 00:00:00

  • Parallel radiation hybrid mapping: a powerful tool for high-resolution genomic comparison.

    abstract::Comparative gene mapping in mammals typically involves identification of segments of conserved synteny in diverse genomes. The development of maps that permit comparison of gene order within conserved synteny has not advanced beyond the mouse map that takes advantage of linkage analysis in interspecific backcrosses. R...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.8.7.731

    authors: Yang YP,Womack JE

    更新日期:1998-07-01 00:00:00

  • Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres.

    abstract::Large terminal fragments of human chromosomes 2p, 6p, 8q, 12q, and 18q were cloned using yeast artificial chromosomes (YACs). RecA-assisted restriction endonuclease (RARE) cleavage analysis of genomic DNA samples from II unrelated individuals using YAC-derived probes confirmed the telomeric localizations of the half-Y...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.5.3.225

    authors: Macina RA,Morii K,Hu XL,Negorev DG,Spais C,Ruthig LA,Riethman HC

    更新日期:1995-10-01 00:00:00

  • Polycomb preferentially targets stalled promoters of coding and noncoding transcripts.

    abstract::The Polycomb group (PcG) and Trithorax group (TrxG) of proteins are required for stable and heritable maintenance of repressed and active gene expression states. Their antagonistic function on gene control, repression for PcG and activity for TrxG, is mediated by binding to chromatin and subsequent epigenetic modifica...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.114348.110

    authors: Enderle D,Beisel C,Stadler MB,Gerstung M,Athri P,Paro R

    更新日期:2011-02-01 00:00:00