Complex genomic rearrangements lead to novel primate gene function.

Abstract:

:Orthologous genes that maintain a single-copy status in a broad range of species may indicate a selection against gene duplication. If this is the case, then duplicates of such genes that do survive may have escaped the dosage control by rapid and sizable changes in their function. To test this hypothesis and to develop a strategy for the identification of novel gene functions, we have analyzed 22 primate-specific intrachromosomal duplications of genes with a single-copy ortholog in all other completely sequenced metazoans. When comparing this set to genes not exposed to the single-copy status constraint, we observed a higher tendency of the former to modify their gene structure, often through complex genomic rearrangements. The analysis of the most dramatic of these duplications, affecting approximately 10% of human Chromosome 2, enabled a detailed reconstruction of the events leading to the appearance of a novel gene family. The eight members of this family originated from the highly conserved nucleoporin RanBP2 by several genetic rearrangements such as segmental duplications, inversions, translocations, exon loss, and domain accretion. We have experimentally verified that at least one of the newly formed proteins has a cellular localization different from RanBP2's, and we show that positive selection did act on specific domains during evolution.

journal_name

Genome Res

journal_title

Genome research

authors

Ciccarelli FD,von Mering C,Suyama M,Harrington ED,Izaurralde E,Bork P

doi

10.1101/gr.3266405

subject

Has Abstract

pub_date

2005-03-01 00:00:00

pages

343-51

issue

3

eissn

1088-9051

issn

1549-5469

pii

gr.3266405

journal_volume

15

pub_type

杂志文章
  • 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

  • Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

    abstract::We have developed a mutation-scanning approach suitable for whole population screening for unknown mutations. The method, meltMADGE, combines thermal ramp electrophoresis with MADGE to achieve suitable cost efficiency and throughput. The sensitivity was tested in blind trials using 54 amplicons representing the BRCA1 ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.3313405

    authors: Alharbi KK,Aldahmesh MA,Spanakis E,Haddad L,Whittall RA,Chen XH,Rassoulian H,Smith MJ,Sillibourne J,Ball NJ,Graham NJ,Briggs PJ,Simpson IA,Phillips DI,Lawlor DA,Ye S,Humphries SE,Cooper C,Smith GD,Ebrahim S,Eccles

    更新日期:2005-07-01 00:00:00

  • A predictive model for regulatory sequences directing liver-specific transcription.

    abstract::The identification and interpretation of the regulatory signals within the human genome remain among the greatest goals and most difficult challenges in genome analysis. The ability to predict the temporal and spatial control of transcription is likely to require a combination of methods to address the contribution of...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.180601

    authors: Krivan W,Wasserman WW

    更新日期:2001-09-01 00:00:00

  • Genome-wide map of regulatory interactions in the human genome.

    abstract::Increasing evidence suggests that interactions between regulatory genomic elements play an important role in regulating gene expression. We generated a genome-wide interaction map of regulatory elements in human cells (ENCODE tier 1 cells, K562, GM12878) using Chromatin Interaction Analysis by Paired-End Tag sequencin...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.176586.114

    authors: Heidari N,Phanstiel DH,He C,Grubert F,Jahanbani F,Kasowski M,Zhang MQ,Snyder MP

    更新日期:2014-12-01 00:00:00

  • Fourfold faster rate of genome rearrangement in nematodes than in Drosophila.

    abstract::We compared the genome of the nematode Caenorhabditis elegans to 13% of that of Caenorhabditis briggsae, identifying 252 conserved segments along their chromosomes. We detected 517 chromosomal rearrangements, with the ratio of translocations to inversions to transpositions being approximately 1:1:2. We estimate that t...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.172702

    authors: Coghlan A,Wolfe KH

    更新日期:2002-06-01 00:00:00

  • An analysis of the gene complement of a marsupial, Monodelphis domestica: evolution of lineage-specific genes and giant chromosomes.

    abstract::The newly sequenced genome of Monodelphis domestica not only provides the out-group necessary to better understand our own eutherian lineage, but it enables insights into the innovative biology of metatherians. Here, we compare Monodelphis with Homo sequences from alignments of single nucleotides, genes, and whole chr...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.6093907

    authors: Goodstadt L,Heger A,Webber C,Ponting CP

    更新日期:2007-07-01 00:00:00

  • The (r)evolution of SINE versus LINE distributions in primate genomes: sex chromosomes are important.

    abstract::The densities of transposable elements (TEs) in the human genome display substantial variation both within individual chromosomes and among chromosome types (autosomes and the two sex chromosomes). Finding an explanation for this variability has been challenging, especially in light of genome landscapes unique to the ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.099044.109

    authors: Kvikstad EM,Makova KD

    更新日期:2010-05-01 00:00:00

  • Telomeric organization of a variable and inducible toxin gene family in the ancient eukaryote Giardia duodenalis.

    abstract::Giardia duodenalis is the best-characterized example of the most ancient eukaryotes, which are primitively amitochondrial and anaerobic. The surface of Giardia is coated with cysteine-rich proteins. One family of these proteins, CRP136, varies among isolates and upon environmental stress. A repeat region within the CR...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.7.1.37

    authors: Upcroft P,Chen N,Upcroft JA

    更新日期:1997-01-01 00:00:00

  • Computational comparison of human genomic sequence assemblies for a region of chromosome 4.

    abstract::Much of the available human genomic sequence data exist in a fragmentary draft state following the completion of the initial high-volume sequencing performed by the International Human Genome Sequencing Consortium (IHGSC) and Celera Genomics (CG). We compared six draft genome assemblies over a region of chromosome 4p ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.207902

    authors: Semple CA,Morris SW,Porteous DJ,Evans KL

    更新日期:2002-03-01 00:00:00

  • The origins and evolution of chromosomes, dosage compensation, and mechanisms underlying venom regulation in snakes.

    abstract::Here we use a chromosome-level genome assembly of a prairie rattlesnake (Crotalus viridis), together with Hi-C, RNA-seq, and whole-genome resequencing data, to study key features of genome biology and evolution in reptiles. We identify the rattlesnake Z Chromosome, including the recombining pseudoautosomal region, and...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.240952.118

    authors: Schield DR,Card DC,Hales NR,Perry BW,Pasquesi GM,Blackmon H,Adams RH,Corbin AB,Smith CF,Ramesh B,Demuth JP,Betrán E,Tollis M,Meik JM,Mackessy SP,Castoe TA

    更新日期:2019-04-01 00:00:00

  • Identification of protein features encoded by alternative exons using Exon Ontology.

    abstract::Transcriptomic genome-wide analyses demonstrate massive variation of alternative splicing in many physiological and pathological situations. One major challenge is now to establish the biological contribution of alternative splicing variation in physiological- or pathological-associated cellular phenotypes. Toward thi...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.212696.116

    authors: Tranchevent LC,Aubé F,Dulaurier L,Benoit-Pilven C,Rey A,Poret A,Chautard E,Mortada H,Desmet FO,Chakrama FZ,Moreno-Garcia MA,Goillot E,Janczarski S,Mortreux F,Bourgeois CF,Auboeuf D

    更新日期:2017-06-01 00:00:00

  • Accurate detection and genotyping of SNPs utilizing population sequencing data.

    abstract::Next-generation sequencing technologies have made it possible to sequence targeted regions of the human genome in hundreds of individuals. Deep sequencing represents a powerful approach for the discovery of the complete spectrum of DNA sequence variants in functionally important genomic intervals. Current methods for ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.100040.109

    authors: Bansal V,Harismendy O,Tewhey R,Murray SS,Schork NJ,Topol EJ,Frazer KA

    更新日期:2010-04-01 00:00:00

  • Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis.

    abstract::The impact of inherited genetic variation on gene expression in humans is well-established. The majority of known expression quantitative trait loci (eQTLs) impact expression of local genes (cis-eQTLs). More research is needed to identify effects of genetic variation on distant genes (trans-eQTLs) and understand their...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.216754.116

    authors: Yang F,Wang J,GTEx Consortium.,Pierce BL,Chen LS

    更新日期:2017-11-01 00:00:00

  • Spotted long oligonucleotide arrays for human gene expression analysis.

    abstract::DNA microarrays produced by deposition (or 'spotting')of a single long oligonucleotide probe for each gene may be an attractive alternative to other types of arrays. We produced spotted oligonucleotide arrays using two large collections of approximately 70-mer probes, and used these arrays to analyze gene expression i...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.1048803

    authors: Barczak A,Rodriguez MW,Hanspers K,Koth LL,Tai YC,Bolstad BM,Speed TP,Erle DJ

    更新日期:2003-07-01 00:00:00

  • 1-Mb resolution array-based comparative genomic hybridization using a BAC clone set optimized for cancer gene analysis.

    abstract::Array-based comparative genomic hybridization (aCGH) is a recently developed tool for genome-wide determination of DNA copy number alterations. This technology has tremendous potential for disease-gene discovery in cancer and developmental disorders as well as numerous other applications. However, widespread utilizati...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.1847304

    authors: Greshock J,Naylor TL,Margolin A,Diskin S,Cleaver SH,Futreal PA,deJong PJ,Zhao S,Liebman M,Weber BL

    更新日期:2004-01-01 00:00:00

  • Next-generation tag sequencing for cancer gene expression profiling.

    abstract::We describe a new method, Tag-seq, which employs ultra high-throughput sequencing of 21 base pair cDNA tags for sensitive and cost-effective gene expression profiling. We compared Tag-seq data to LongSAGE data and observed improved representation of several classes of rare transcripts, including transcription factors,...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.094482.109

    authors: Morrissy AS,Morin RD,Delaney A,Zeng T,McDonald H,Jones S,Zhao Y,Hirst M,Marra MA

    更新日期:2009-10-01 00:00:00

  • A dynamic H3K27ac signature identifies VEGFA-stimulated endothelial enhancers and requires EP300 activity.

    abstract::Histone modifications are now well-established mediators of transcriptional programs that distinguish cell states. However, the kinetics of histone modification and their role in mediating rapid, signal-responsive gene expression changes has been little studied on a genome-wide scale. Vascular endothelial growth facto...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.149674.112

    authors: Zhang B,Day DS,Ho JW,Song L,Cao J,Christodoulou D,Seidman JG,Crawford GE,Park PJ,Pu WT

    更新日期:2013-06-01 00:00:00

  • DIG-seq: a genome-wide CRISPR off-target profiling method using chromatin DNA.

    abstract::To investigate whether and how CRISPR-Cas9 on-target and off-target activities are affected by chromatin in eukaryotic cells, we first identified a series of identical endogenous DNA sequences present in both open and closed chromatin regions and then measured mutation frequencies at these sites in human cells using C...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.236620.118

    authors: Kim D,Kim JS

    更新日期:2018-12-01 00:00:00

  • Properties of overlapping genes are conserved across microbial genomes.

    abstract::There are numerous examples from the genomes of viruses, mitochondria, and chromosomes that adjacent genes can overlap, sharing at least one nucleotide. Overlaps have been hypothesized to be involved in genome size minimization and as a regulatory mechanism of gene expression. Here we show that overlapping genes are a...

    journal_title:Genome research

    pub_type: 信件

    doi:10.1101/gr.2433104

    authors: Johnson ZI,Chisholm SW

    更新日期:2004-11-01 00:00:00

  • Integration of the rat recombination and EST maps in the rat genomic sequence and comparative mapping analysis with the mouse genome.

    abstract::Inbred strains of the laboratory rat are widely used for identifying genetic regions involved in the control of complex quantitative phenotypes of biomedical importance. The draft genomic sequence of the rat now provides essential information for annotating rat quantitative trait locus (QTL) maps. Following the survey...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.2001604

    authors: Wilder SP,Bihoreau MT,Argoud K,Watanabe TK,Lathrop M,Gauguier D

    更新日期:2004-04-01 00:00:00

  • End Sequence Analysis Toolkit (ESAT) expands the extractable information from single-cell RNA-seq data.

    abstract::RNA-seq protocols that focus on transcript termini are well suited for applications in which template quantity is limiting. Here we show that, when applied to end-sequencing data, analytical methods designed for global RNA-seq produce computational artifacts. To remedy this, we created the End Sequence Analysis Toolki...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.207902.116

    authors: Derr A,Yang C,Zilionis R,Sergushichev A,Blodgett DM,Redick S,Bortell R,Luban J,Harlan DM,Kadener S,Greiner DL,Klein A,Artyomov MN,Garber M

    更新日期:2016-10-01 00:00:00

  • Multiplex mapping of chromatin accessibility and DNA methylation within targeted single molecules identifies epigenetic heterogeneity in neural stem cells and glioblastoma.

    abstract::Human tumors are comprised of heterogeneous cell populations that display diverse molecular and phenotypic features. To examine the extent to which epigenetic differences contribute to intratumoral cellular heterogeneity, we have developed a high-throughput method, termed MAPit-patch. The method uses multiplexed ampli...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.161737.113

    authors: Nabilsi NH,Deleyrolle LP,Darst RP,Riva A,Reynolds BA,Kladde MP

    更新日期:2014-02-01 00:00:00

  • HD-Marker: a highly multiplexed and flexible approach for targeted genotyping of more than 10,000 genes in a single-tube assay.

    abstract::Targeted genotyping of transcriptome-scale genetic markers is highly attractive for genetic, ecological, and evolutionary studies, but achieving this goal in a cost-effective manner remains a major challenge, especially for laboratories working on nonmodel organisms. Here, we develop a high-throughput, sequencing-base...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.235820.118

    authors: Lv J,Jiao W,Guo H,Liu P,Wang R,Zhang L,Zeng Q,Hu X,Bao Z,Wang S

    更新日期:2018-12-01 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

  • A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution.

    abstract::Initially thought to play a restricted role in calcium homeostasis, the pleiotropic actions of vitamin D in biology and their clinical significance are only now becoming apparent. However, the mode of action of vitamin D, through its cognate nuclear vitamin D receptor (VDR), and its contribution to diverse disorders, ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.107920.110

    authors: Ramagopalan SV,Heger A,Berlanga AJ,Maugeri NJ,Lincoln MR,Burrell A,Handunnetthi L,Handel AE,Disanto G,Orton SM,Watson CT,Morahan JM,Giovannoni G,Ponting CP,Ebers GC,Knight JC

    更新日期:2010-10-01 00:00:00

  • Analysis of 5' junctions of human LINE-1 and Alu retrotransposons suggests an alternative model for 5'-end attachment requiring microhomology-mediated end-joining.

    abstract::Insertion of the human non-LTR retrotransposon LINE-1 (L1) into chromosomal DNA is thought to be initiated by a mechanism called target-primed reverse transcription (TPRT). This mechanism readily accounts for the attachment of the 3'-end of an L1 copy to the genomic target, but the subsequent integration steps leading...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.3421505

    authors: Zingler N,Willhoeft U,Brose HP,Schoder V,Jahns T,Hanschmann KM,Morrish TA,Löwer J,Schumann GG

    更新日期:2005-06-01 00:00:00

  • A fine scale phenotype-genotype virulence map of a bacterial pathogen.

    abstract::A large fraction of the genes from sequenced organisms are of unknown function. This limits biological insight, and for pathogenic microorganisms hampers the development of new approaches to battle infections. There is thus a great need for novel strategies that link genotypes to phenotypes for microorganisms. We desc...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.137430.112

    authors: van Opijnen T,Camilli A

    更新日期:2012-12-01 00:00:00

  • High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1.

    abstract::We have established a landmark framework map over 20-25 Mb of the long arm of the human X chromosome using yeast artificial chromosome (YAC) clones. The map has approximately one landmark per 45 kb of DNA and stretches from DXS7531 in proximal Xq23 to DXS895 in proximal Xq26, connecting to published framework maps on ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:

    authors: Steingruber HE,Dunham A,Coffey AJ,Clegg SM,Howell GR,Maslen GL,Scott CE,Gwilliam R,Hunt PJ,Sotheran EC,Huckle EJ,Hunt SE,Dhami P,Soderlund C,Leversha MA,Bentley DR,Ross MT

    更新日期:1999-08-01 00:00:00

  • BRAFV600E remodels the melanocyte transcriptome and induces BANCR to regulate melanoma cell migration.

    abstract::Aberrations of protein-coding genes are a focus of cancer genomics; however, the impact of oncogenes on expression of the ~50% of transcripts without protein-coding potential, including long noncoding RNAs (lncRNAs), has been largely uncharacterized. Activating mutations in the BRAF oncogene are present in >70% of mel...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.140061.112

    authors: Flockhart RJ,Webster DE,Qu K,Mascarenhas N,Kovalski J,Kretz M,Khavari PA

    更新日期:2012-06-01 00:00:00

  • Wolbachia genome integrated in an insect chromosome: evolution and fate of laterally transferred endosymbiont genes.

    abstract::Recent accumulation of microbial genome data has demonstrated that lateral gene transfers constitute an important and universal evolutionary process in prokaryotes, while those in multicellular eukaryotes are still regarded as unusual, except for endosymbiotic gene transfers from mitochondria and plastids. Here we tho...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.7144908

    authors: Nikoh N,Tanaka K,Shibata F,Kondo N,Hizume M,Shimada M,Fukatsu T

    更新日期:2008-02-01 00:00:00