Single-cell chromosomal imbalances detection by array CGH.

Abstract:

:Genomic imbalances are a major cause of constitutional and acquired disorders. Therefore, aneuploidy screening has become the cornerstone of preimplantation, prenatal and postnatal genetic diagnosis, as well as a routine aspect of the diagnostic workup of many acquired disorders. Recently, array comparative genomic hybridization (array CGH) has been introduced as a rapid and high-resolution method for the detection of both benign and disease-causing genomic copy-number variations. Until now, array CGH has been performed using a significant quantity of DNA derived from a pool of cells. Here, we present an array CGH method that accurately detects chromosomal imbalances from a single lymphoblast, fibroblast and blastomere within a single day. Trisomy 13, 18, 21 and monosomy X, as well as normal ploidy levels of all other chromosomes, were accurately determined from single fibroblasts. Moreover, we showed that a segmental deletion as small as 34 Mb could be detected. Finally, we demonstrated the possibility to detect aneuploidies in single blastomeres derived from preimplantation embryos. This technique offers new possibilities for genetic analysis of single cells in general and opens the route towards aneuploidy screening and detection of unbalanced translocations in preimplantation embryos in particular.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Le Caignec C,Spits C,Sermon K,De Rycke M,Thienpont B,Debrock S,Staessen C,Moreau Y,Fryns JP,Van Steirteghem A,Liebaers I,Vermeesch JR

doi

10.1093/nar/gkl336

subject

Has Abstract

pub_date

2006-05-12 00:00:00

pages

e68

issue

9

eissn

0305-1048

issn

1362-4962

pii

34/9/e68

journal_volume

34

pub_type

杂志文章
  • DIANA-microT Web server upgrade supports Fly and Worm miRNA target prediction and bibliographic miRNA to disease association.

    abstract::microRNAs (miRNAs) are small endogenous RNA molecules that are implicated in many biological processes through post-transcriptional regulation of gene expression. The DIANA-microT Web server provides a user-friendly interface for comprehensive computational analysis of miRNA targets in human and mouse. The server has ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkr294

    authors: Maragkakis M,Vergoulis T,Alexiou P,Reczko M,Plomaritou K,Gousis M,Kourtis K,Koziris N,Dalamagas T,Hatzigeorgiou AG

    更新日期:2011-07-01 00:00:00

  • Many trypanosome messenger RNAs share a common 5' terminal sequence.

    abstract::The mRNAs for different variant surface antigens of Trypanosoma brucei start with the same 35 nucleotides. This sequence is encoded by a separate mini-exon, located in a 1.35-kb repetitive element. We have reported that trypanosomes contain many transcripts that hybridize to mini-exon probes, even if they do not make ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/12.9.3777

    authors: De Lange T,Michels PA,Veerman HJ,Cornelissen AW,Borst P

    更新日期:1984-05-11 00:00:00

  • Controlled DNA double-strand break induction in mice reveals post-damage transcriptome stability.

    abstract::DNA double-strand breaks (DSBs) and their repair can cause extensive epigenetic changes. As a result, DSBs have been proposed to promote transcriptional and, ultimately, physiological dysfunction via both cell-intrinsic and cell-non-autonomous pathways. Studying the consequences of DSBs in higher organisms has, howeve...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkv1482

    authors: Kim J,Sturgill D,Tran AD,Sinclair DA,Oberdoerffer P

    更新日期:2016-04-20 00:00:00

  • Archaeal Hel308 helicase targets replication forks in vivo and in vitro and unwinds lagging strands.

    abstract::Mutations in mammalian and Drosophila Hel308 and PolQ paralogues cause genome instability but their helicase functions are mysterious. By in vivo and in vitro analysis, we show that Hel308 from archaea (Hel308a) may act at stalled replication forks. Introducing hel308a into Escherichia coli dnaE strains that condition...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gki685

    authors: Guy CP,Bolt EL

    更新日期:2005-06-30 00:00:00

  • PipeAlign: A new toolkit for protein family analysis.

    abstract::PipeAlign is a protein family analysis tool integrating a five step process ranging from the search for sequence homologues in protein and 3D structure databases to the definition of the hierarchical relationships within and between subfamilies. The complete, automatic pipeline takes a single sequence or a set of sequ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkg518

    authors: Plewniak F,Bianchetti L,Brelivet Y,Carles A,Chalmel F,Lecompte O,Mochel T,Moulinier L,Muller A,Muller J,Prigent V,Ripp R,Thierry JC,Thompson JD,Wicker N,Poch O

    更新日期:2003-07-01 00:00:00

  • An N-terminal clamp restrains the motor domains of the bacterial transcription-repair coupling factor Mfd.

    abstract::Motor proteins that translocate on nucleic acids are key players in gene expression and maintenance. While the function of these proteins is diverse, they are driven by highly conserved core motor domains. In transcription-coupled DNA repair, motor activity serves to remove RNA polymerase stalled on damaged DNA, makin...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkp680

    authors: Murphy MN,Gong P,Ralto K,Manelyte L,Savery NJ,Theis K

    更新日期:2009-10-01 00:00:00

  • Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray data.

    abstract::Alternative splicing has recently emerged as a major mechanism of regulation in the human genome, occurring in perhaps 40-60% of human genes. Thus, microarray studies of functional regulation could, in principle, be extended to detect not only the changes in the overall expression of a gene, but also changes in its sp...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gnh173

    authors: Le K,Mitsouras K,Roy M,Wang Q,Xu Q,Nelson SF,Lee C

    更新日期:2004-12-14 00:00:00

  • CORUM: the comprehensive resource of mammalian protein complexes.

    abstract::Protein complexes are key molecular entities that integrate multiple gene products to perform cellular functions. The CORUM (http://mips.gsf.de/genre/proj/corum/index.html) database is a collection of experimentally verified mammalian protein complexes. Information is manually derived by critical reading of the scient...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkm936

    authors: Ruepp A,Brauner B,Dunger-Kaltenbach I,Frishman G,Montrone C,Stransky M,Waegele B,Schmidt T,Doudieu ON,Stümpflen V,Mewes HW

    更新日期:2008-01-01 00:00:00

  • DnaG interacts with a linker region that joins the N- and C-domains of DnaB and induces the formation of 3-fold symmetric rings.

    abstract::Loading of the replicative ring helicase onto the origin of replication (oriC) is the final outcome of a well coordinated series of events that collectively constitute a primosomal cascade. Once the ring helicase is loaded, it recruits the primase and signals the switch to the polymerization mode. The transient nature...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkh628

    authors: Thirlway J,Turner IJ,Gibson CT,Gardiner L,Brady K,Allen S,Roberts CJ,Soultanas P

    更新日期:2004-06-01 00:00:00

  • Hypermethylated-capped selenoprotein mRNAs in mammals.

    abstract::Mammalian mRNAs are generated by complex and coordinated biogenesis pathways and acquire 5'-end m(7)G caps that play fundamental roles in processing and translation. Here we show that several selenoprotein mRNAs are not recognized efficiently by translation initiation factor eIF4E because they bear a hypermethylated c...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gku580

    authors: Wurth L,Gribling-Burrer AS,Verheggen C,Leichter M,Takeuchi A,Baudrey S,Martin F,Krol A,Bertrand E,Allmang C

    更新日期:2014-07-01 00:00:00

  • A convenient and adaptable package of computer programs for DNA and protein sequence management, analysis and homology determination.

    abstract::We describe the further development of a widely used package of DNA/protein sequence analysis programs (1). Important revisions have been made based on user experience, and new features, multi-user capability, and a set of large scale homology programs have been added. The programs are very user friendly, economical o...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/12.1part2.643

    authors: Pustell J,Kafatos FC

    更新日期:1984-01-11 00:00:00

  • TRDB--the Tandem Repeats Database.

    abstract::Tandem repeats in DNA have been under intensive study for many years, first, as a consequence of their usefulness as genomic markers and DNA fingerprints and more recently as their role in human disease and regulatory processes has become apparent. The Tandem Repeats Database (TRDB) is a public repository of informati...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkl1013

    authors: Gelfand Y,Rodriguez A,Benson G

    更新日期:2007-01-01 00:00:00

  • Sustained expression of miR-26a promotes chromosomal instability and tumorigenesis through regulation of CHFR.

    abstract::MicroRNA 26a (miR-26a) reduces cell viability in several cancers, indicating that miR-26a could be used as a therapeutic option in patients. We demonstrate that miR-26a not only inhibits G1-S cell cycle transition and promotes apoptosis, as previously described, but also regulates multiple cell cycle checkpoints. We s...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkx022

    authors: Castellano L,Dabrowska A,Pellegrino L,Ottaviani S,Cathcart P,Frampton AE,Krell J,Stebbing J

    更新日期:2017-05-05 00:00:00

  • DNA compaction by the bacteriophage protein Cox studied on the single DNA molecule level using nanofluidic channels.

    abstract::The Cox protein from bacteriophage P2 forms oligomeric filaments and it has been proposed that DNA can be wound up around these filaments, similar to how histones condense DNA. We here use fluorescence microscopy to study single DNA-Cox complexes in nanofluidic channels and compare how the Cox homologs from phages P2 ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkw352

    authors: Frykholm K,Berntsson RP,Claesson M,de Battice L,Odegrip R,Stenmark P,Westerlund F

    更新日期:2016-09-06 00:00:00

  • The conserved ribonuclease aCPSF1 triggers genome-wide transcription termination of Archaea via a 3'-end cleavage mode.

    abstract::Transcription termination defines accurate transcript 3'-ends and ensures programmed transcriptomes, making it critical to life. However, transcription termination mechanisms remain largely unknown in Archaea. Here, we reported the physiological significance of the newly identified general transcription termination fa...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkaa702

    authors: Yue L,Li J,Zhang B,Qi L,Li Z,Zhao F,Li L,Zheng X,Dong X

    更新日期:2020-09-25 00:00:00

  • Cleavage of the sarcin-ricin loop of 23S rRNA differentially affects EF-G and EF-Tu binding.

    abstract::Ribotoxins are potent inhibitors of protein biosynthesis and inactivate ribosomes from a variety of organisms. The ribotoxin alpha-sarcin cleaves the large 23S ribosomal RNA (rRNA) at the universally conserved sarcin-ricin loop (SRL) leading to complete inactivation of the ribosome and cellular death. The SRL interact...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkq151

    authors: García-Ortega L,Alvarez-García E,Gavilanes JG,Martínez-del-Pozo A,Joseph S

    更新日期:2010-07-01 00:00:00

  • Weeder Web: discovery of transcription factor binding sites in a set of sequences from co-regulated genes.

    abstract::One of the greatest challenges that modern molecular biology is facing is the understanding of the complex mechanisms regulating gene expression. A fundamental step in this process requires the characterization of regulatory motifs playing key roles in the regulation of gene expression at transcriptional and post-tran...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkh465

    authors: Pavesi G,Mereghetti P,Mauri G,Pesole G

    更新日期:2004-07-01 00:00:00

  • NUCPLOT: a program to generate schematic diagrams of protein-nucleic acid interactions.

    abstract::Proteins that bind to DNA are found in all areas of genetic activity within the cell. To help understand how these proteins perform their various functions, it is useful to analyse which residues are involved in binding to the DNA and how they interact with the bases and sugar-phosphate backbone of nucleic acids. Here...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/25.24.4940

    authors: Luscombe NM,Laskowski RA,Thornton JM

    更新日期:1997-12-15 00:00:00

  • Codon usage in yeast: cluster analysis clearly differentiates highly and lowly expressed genes.

    abstract::Codon usage data has been compiled for 110 yeast genes. Cluster analysis on relative synonymous codon usage revealed two distinct groups of genes. One group corresponds to highly expressed genes, and has much more extreme synonymous codon preference. The pattern of codon usage observed is consistent with that expected...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/14.13.5125

    authors: Sharp PM,Tuohy TM,Mosurski KR

    更新日期:1986-07-11 00:00:00

  • Rational design of point mutation-selective antisense DNA targeted to codon 12 of Ha-ras mRNA in human cells.

    abstract::Antisense oligodeoxynucleotides targeted to Ha-ras mRNA have been designed to discriminate between the codon 12-mutated oncogene and the normal proto-oncogene. An in vitro assay using two different sources of RNase H (rabbit reticulocyte lysates and nuclear extract from HeLa cells) was used to characterize oligonucleo...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/23.17.3411

    authors: Duroux I,Godard G,Boidot-Forget M,Schwab G,Hélène C,Saison-Behmoaras T

    更新日期:1995-09-11 00:00:00

  • Topoisomerase II minimizes DNA entanglements by proofreading DNA topology after DNA strand passage.

    abstract::By transporting one DNA double helix (T-segment) through a double-strand break in another (G-segment), topoisomerase II reduces fractions of DNA catenanes, knots and supercoils to below equilibrium values. How DNA segments are selected to simplify the equilibrium DNA topology is enigmatic, and the biological relevance...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkt1037

    authors: Martínez-García B,Fernández X,Díaz-Ingelmo O,Rodríguez-Campos A,Manichanh C,Roca J

    更新日期:2014-02-01 00:00:00

  • Development of modified siRNA molecules incorporating 5-fluoro-2'-deoxyuridine residues to enhance cytotoxicity.

    abstract::Therapeutic small interfering RNAs (siRNAs) are composed of chemically modified nucleotides, which enhance RNA stability and increase affinity in Watson-Crick base pairing. However, the precise fate of such modified nucleotides once the siRNA is degraded within the cell is unknown. Previously, we demonstrated that deo...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkt120

    authors: Wu SY,Chen TM,Gmeiner WH,Chu E,Schmitz JC

    更新日期:2013-04-01 00:00:00

  • Highly selective retrieval of accurate DNA utilizing a pool of in situ-replicated DNA from multiple next-generation sequencing platforms.

    abstract::Scalable and cost-effective production of error-free DNA is critical to meet the increased demand for such DNA in the field of biological science. Methods based on 'Dial-out PCR' have enabled the high-throughput error-free DNA synthesis from a microarray-synthesized DNA pool by labeling with retrieval PCR tags, and re...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gky016

    authors: Lim H,Cho N,Ahn J,Park S,Jang H,Kim H,Han H,Lee JH,Bang D

    更新日期:2018-04-20 00:00:00

  • Serine activation is the rate limiting step of tRNASer aminoacylation by yeast seryl tRNA synthetase.

    abstract::Using the quenched flow technique the mechanism of seryl tRNA synthetase action has been investigated with respect to the presteady state kinetics of individual steps. Under conditions where the strong binding sites of the enzyme are nearly saturated and the steady state turnover number is about 1 s-1, rate constants ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/8.17.4021

    authors: Dibbelt L,Pachmann U,Zachau HG

    更新日期:1980-09-11 00:00:00

  • Transcription of the tRNA-tufB operon of Escherichia coli: activation, termination and antitermination.

    abstract::Signals setting the level of transcription of the tRNA-tufB operon have been studied by deletion mapping. TufB transcription was measured in vivo with plasmid-borne tRNA-tufB:galk operon fusions. Removal of the sequences from -133 to -58 with respect to the transcription start point, results in a 90% decrease of tufB ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/15.22.9515

    authors: van Delft JH,Mariñon B,Schmidt DS,Bosch L

    更新日期:1987-11-25 00:00:00

  • ModBase, a database of annotated comparative protein structure models and associated resources.

    abstract::ModBase (http://salilab.org/modbase) is a database of annotated comparative protein structure models. The models are calculated by ModPipe, an automated modeling pipeline that relies primarily on Modeller for fold assignment, sequence-structure alignment, model building and model assessment (http://salilab.org/modelle...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkt1144

    authors: Pieper U,Webb BM,Dong GQ,Schneidman-Duhovny D,Fan H,Kim SJ,Khuri N,Spill YG,Weinkam P,Hammel M,Tainer JA,Nilges M,Sali A

    更新日期:2014-01-01 00:00:00

  • Identification of polymorphisms by genomic denaturing gradient gel electrophoresis: application to the proximal region of human chromosome 21.

    abstract::Genomic Denaturing Gradient Gel Electrophoresis (gDGGE) provides an alternative to the standard method of restriction fragment length polymorphism (RFLP) analysis for identifying polymorphic sequence variation in genomic DNA. For gDGGE, genomic DNA is cleaved by restriction enzymes, separated in a polyacrylamide gel c...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/19.7.1475

    authors: Burmeister M,diSibio G,Cox DR,Myers RM

    更新日期:1991-04-11 00:00:00

  • Structures of Escherichia coli DNA adenine methyltransferase (Dam) in complex with a non-GATC sequence: potential implications for methylation-independent transcriptional repression.

    abstract::DNA adenine methyltransferase (Dam) is widespread and conserved among the γ-proteobacteria. Methylation of the Ade in GATC sequences regulates diverse bacterial cell functions, including gene expression, mismatch repair and chromosome replication. Dam also controls virulence in many pathogenic Gram-negative bacteria. ...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkv251

    authors: Horton JR,Zhang X,Blumenthal RM,Cheng X

    更新日期:2015-04-30 00:00:00

  • Actin and myosin contribute to mammalian mitochondrial DNA maintenance.

    abstract::Mitochondrial DNA maintenance and segregation are dependent on the actin cytoskeleton in budding yeast. We found two cytoskeletal proteins among six proteins tightly associated with rat liver mitochondrial DNA: non-muscle myosin heavy chain IIA and β-actin. In human cells, transient gene silencing of MYH9 (encoding no...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gkr052

    authors: Reyes A,He J,Mao CC,Bailey LJ,Di Re M,Sembongi H,Kazak L,Dzionek K,Holmes JB,Cluett TJ,Harbour ME,Fearnley IM,Crouch RJ,Conti MA,Adelstein RS,Walker JE,Holt IJ

    更新日期:2011-07-01 00:00:00

  • CpG Island microarray probe sequences derived from a physical library are representative of CpG Islands annotated on the human genome.

    abstract::An effective tool for the global analysis of both DNA methylation status and protein-chromatin interactions is a microarray constructed with sequences containing regulatory elements. One type of array suited for this purpose takes advantage of the strong association between CpG Islands (CGIs) and gene regulatory regio...

    journal_title:Nucleic acids research

    pub_type: 杂志文章

    doi:10.1093/nar/gki582

    authors: Heisler LE,Torti D,Boutros PC,Watson J,Chan C,Winegarden N,Takahashi M,Yau P,Huang TH,Farnham PJ,Jurisica I,Woodgett JR,Bremner R,Penn LZ,Der SD

    更新日期:2005-05-23 00:00:00