The sequence of human chromosome 21 and implications for research into Down syndrome.

Abstract:

:The recent completion of the DNA sequence of human chromosome 21 has provided the first look at the 225 genes that are candidates for involvement in Down syndrome (trisomy 21). A broad functional classification of these genes, their expression data and evolutionary conservation, and comparison with the gene content of the major mouse models of Down syndrome, suggest how the chromosome sequence may help in understanding the complex Down syndrome phenotype.

journal_name

Genome Biol

journal_title

Genome biology

authors

Gardiner K,Davisson M

doi

10.1186/gb-2000-1-2-reviews0002

keywords:

subject

Has Abstract

pub_date

2000-01-01 00:00:00

pages

REVIEWS0002

issue

2

eissn

1474-7596

issn

1474-760X

journal_volume

1

pub_type

杂志文章,评审
  • The impact of chromatin modifiers on the timing of locus replication in mouse embryonic stem cells.

    abstract:BACKGROUND:The time of locus replication during S-phase is tightly regulated and correlates with chromatin state. Embryonic stem (ES) cells have an unusual chromatin profile where many developmental regulator genes that are not yet expressed are marked by both active and repressive histone modifications. This poised or...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2007-8-8-r169

    authors: Jørgensen HF,Azuara V,Amoils S,Spivakov M,Terry A,Nesterova T,Cobb BS,Ramsahoye B,Merkenschlager M,Fisher AG

    更新日期:2007-01-01 00:00:00

  • RuNAway Disease: A two cycle model for transmissible spongiform encephalopathies (TSEs) wherein

    abstract:BACKGROUND:Despite decades of research, the agent responsible for transmitting spongiform encephalopathies (TSEs) has not been identified. The Prion hypothesis, which dominates the field, supposes that modified host PrP protein, termed PrPSc, acts as the transmissible agent. This model fits the observation that TSE dis...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2001-2-7-preprint0006

    authors: Gibson TJ

    更新日期:2001-01-01 00:00:00

  • The uses of genome-wide yeast mutant collections.

    abstract::We assess five years of usage of the major genome-wide collections of mutants from Saccharomyces cerevisiae: single deletion mutants, double mutants conferring 'synthetic' lethality and the 'TRIPLES' collection of mutants obtained by random transposon insertion. Over 100 experimental conditions have been tested and mo...

    journal_title:Genome biology

    pub_type: 杂志文章,评审

    doi:10.1186/gb-2004-5-7-229

    authors: Scherens B,Goffeau A

    更新日期:2004-01-01 00:00:00

  • EpiTEome: Simultaneous detection of transposable element insertion sites and their DNA methylation levels.

    abstract::The genome-wide investigation of DNA methylation levels has been limited to reference transposable element positions. The methylation analysis of non-reference and mobile transposable elements has only recently been performed, but required both genome resequencing and MethylC-seq datasets. We have created epiTEome, a ...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/s13059-017-1232-0

    authors: Daron J,Slotkin RK

    更新日期:2017-05-12 00:00:00

  • Host-associated microbiomes are predicted by immune system complexity and climate.

    abstract:BACKGROUND:Host-associated microbiomes, the microorganisms occurring inside and on host surfaces, influence evolutionary, immunological, and ecological processes. Interactions between host and microbiome affect metabolism and contribute to host adaptation to changing environments. Meta-analyses of host-associated bacte...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/s13059-019-1908-8

    authors: Woodhams DC,Bletz MC,Becker CG,Bender HA,Buitrago-Rosas D,Diebboll H,Huynh R,Kearns PJ,Kueneman J,Kurosawa E,LaBumbard BC,Lyons C,McNally K,Schliep K,Shankar N,Tokash-Peters AG,Vences M,Whetstone R

    更新日期:2020-02-03 00:00:00

  • Genetic subtraction profiling identifies genes essential for Arabidopsis reproduction and reveals interaction between the female gametophyte and the maternal sporophyte.

    abstract:BACKGROUND:The embryo sac contains the haploid maternal cell types necessary for double fertilization and subsequent seed development in plants. Large-scale identification of genes expressed in the embryo sac remains cumbersome because of its inherent microscopic and inaccessible nature. We used genetic subtraction and...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2007-8-10-r204

    authors: Johnston AJ,Meier P,Gheyselinck J,Wuest SE,Federer M,Schlagenhauf E,Becker JD,Grossniklaus U

    更新日期:2007-01-01 00:00:00

  • RASTA-Bacteria: a web-based tool for identifying toxin-antitoxin loci in prokaryotes.

    abstract::Toxin/antitoxin (TA) systems, viewed as essential regulators of growth arrest and programmed cell death, are widespread among prokaryotes, but remain sparsely annotated. We present RASTA-Bacteria, an automated method allowing quick and reliable identification of TA loci in sequenced prokaryotic genomes, whether they a...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2007-8-8-r155

    authors: Sevin EW,Barloy-Hubler F

    更新日期:2007-01-01 00:00:00

  • The diversity of endothelial cells: a challenge for therapeutic angiogenesis.

    abstract::Vascular endothelia comprise a diverse population of cells that specialize in response to genetic programs and environmental cues to take on distinct roles in different vessels, tissues, and organs, and in response to pathophysiological stresses. Characterization of endothelial-cell diversity will facilitate the devel...

    journal_title:Genome biology

    pub_type: 杂志文章,评审

    doi:10.1186/gb-2004-5-2-207

    authors: Conway EM,Carmeliet P

    更新日期:2004-01-01 00:00:00

  • Interrogation of global mutagenesis data with a genome scale model of Neisseria meningitidis to assess gene fitness in vitro and in sera.

    abstract:BACKGROUND:Neisseria meningitidis is an important human commensal and pathogen that causes several thousand deaths each year, mostly in young children. How the pathogen replicates and causes disease in the host is largely unknown, particularly the role of metabolism in colonization and disease. Completed genome sequenc...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2011-12-12-r127

    authors: Mendum TA,Newcombe J,Mannan AA,Kierzek AM,McFadden J

    更新日期:2011-12-30 00:00:00

  • A genomic and evolutionary approach reveals non-genetic drug resistance in malaria.

    abstract:BACKGROUND:Drug resistance remains a major public health challenge for malaria treatment and eradication. Individual loci associated with drug resistance to many antimalarials have been identified, but their epistasis with other resistance mechanisms has not yet been elucidated. RESULTS:We previously described two mut...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/PREACCEPT-1067113631444973

    authors: Herman JD,Rice DP,Ribacke U,Silterra J,Deik AA,Moss EL,Broadbent KM,Neafsey DE,Desai MM,Clish CB,Mazitschek R,Wirth DF

    更新日期:2014-01-01 00:00:00

  • Systematic identification of genetic influences on methylation across the human life course.

    abstract:BACKGROUND:The influence of genetic variation on complex diseases is potentially mediated through a range of highly dynamic epigenetic processes exhibiting temporal variation during development and later life. Here we present a catalogue of the genetic influences on DNA methylation (methylation quantitative trait loci ...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/s13059-016-0926-z

    authors: Gaunt TR,Shihab HA,Hemani G,Min JL,Woodward G,Lyttleton O,Zheng J,Duggirala A,McArdle WL,Ho K,Ring SM,Evans DM,Davey Smith G,Relton CL

    更新日期:2016-03-31 00:00:00

  • A CRISPR design for next-generation antimicrobials.

    abstract::Two recent publications have demonstrated how delivering CRISPR nucleases provides a promising solution to the growing problem of bacterial antibiotic resistance. ...

    journal_title:Genome biology

    pub_type: 评论,杂志文章

    doi:10.1186/s13059-014-0516-x

    authors: Beisel CL,Gomaa AA,Barrangou R

    更新日期:2014-11-08 00:00:00

  • Genomic studies of mood disorders -- the brain as a muscle?

    abstract::Recent genomic studies showing abnormalities in the fibroblast growth factor system in the postmortem brains of people with major depressive disorder support previous indications of a role for growth factors in mood disorders. Similar molecular pathways, volumetric changes, and the effects of exercise on mood suggest ...

    journal_title:Genome biology

    pub_type: 杂志文章,评审

    doi:10.1186/gb-2005-6-4-215

    authors: Niculescu AB

    更新日期:2005-01-01 00:00:00

  • GWASs and the age of human as the model organism for autoimmune genetic research.

    abstract::Genetic studies have identified more than 150 autoimmune loci, and next-generation sequencing will identify more. Is it time to make human the model organism for autoimmune research? ...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2010-11-5-212

    authors: Plenge R

    更新日期:2010-01-01 00:00:00

  • FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease.

    abstract:BACKGROUND:Candidate single nucleotide polymorphisms (SNPs) from genome-wide association studies (GWASs) were often selected for validation based on their functional annotation, which was inadequate and biased. We propose to use the more than 200,000 microarray studies in the Gene Expression Omnibus to systematically p...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2008-9-12-r170

    authors: Chen R,Morgan AA,Dudley J,Deshpande T,Li L,Kodama K,Chiang AP,Butte AJ

    更新日期:2008-01-01 00:00:00

  • Cis-acting lnc-eRNA SEELA directly binds histone H4 to promote histone recognition and leukemia progression.

    abstract:BACKGROUND:Long noncoding enhancer RNAs (lnc-eRNAs) are a subset of stable eRNAs identified from annotated lncRNAs. They might act as enhancer activity-related therapeutic targets in cancer. However, the underlying mechanism of epigenetic activation and their function in cancer initiation and progression remain largely...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/s13059-020-02186-x

    authors: Fang K,Huang W,Sun YM,Chen TQ,Zeng ZC,Yang QQ,Pan Q,Han C,Sun LY,Luo XQ,Wang WT,Chen YQ

    更新日期:2020-11-03 00:00:00

  • Functional CRISPR screen identifies AP1-associated enhancer regulating FOXF1 to modulate oncogene-induced senescence.

    abstract:BACKGROUND:Functional characterization of non-coding elements in the human genome is a major genomic challenge and the maturation of genome-editing technologies is revolutionizing our ability to achieve this task. Oncogene-induced senescence, a cellular state of irreversible proliferation arrest that is enforced follow...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/s13059-018-1494-1

    authors: Han R,Li L,Ugalde AP,Tal A,Manber Z,Barbera EP,Chiara VD,Elkon R,Agami R

    更新日期:2018-08-17 00:00:00

  • mirMark: a site-level and UTR-level classifier for miRNA target prediction.

    abstract::MiRNAs play important roles in many diseases including cancers. However computational prediction of miRNA target genes is challenging and the accuracies of existing methods remain poor. We report mirMark, a new machine learning-based method of miRNA target prediction at the site and UTR levels. This method uses experi...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/s13059-014-0500-5

    authors: Menor M,Ching T,Zhu X,Garmire D,Garmire LX

    更新日期:2014-01-01 00:00:00

  • Classifying leukemia types with chromatin conformation data.

    abstract:BACKGROUND:Although genetic or epigenetic alterations have been shown to affect the three-dimensional organization of genomes, the utility of chromatin conformation in the classification of human disease has never been addressed. RESULTS:Here, we explore whether chromatin conformation can be used to classify human leu...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2014-15-4-r60

    authors: Rousseau M,Ferraiuolo MA,Crutchley JL,Wang XQ,Miura H,Blanchette M,Dostie J

    更新日期:2014-04-30 00:00:00

  • Age and sun exposure-related widespread genomic blocks of hypomethylation in nonmalignant skin.

    abstract:BACKGROUND:Aging and sun exposure are the leading causes of skin cancer. It has been shown that epigenetic changes, such as DNA methylation, are well established mechanisms for cancer, and also have emerging roles in aging and common disease. Here, we directly ask whether DNA methylation is altered following skin aging...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/s13059-015-0644-y

    authors: Vandiver AR,Irizarry RA,Hansen KD,Garza LA,Runarsson A,Li X,Chien AL,Wang TS,Leung SG,Kang S,Feinberg AP

    更新日期:2015-04-16 00:00:00

  • Design and computational analysis of single-cell RNA-sequencing experiments.

    abstract::Single-cell RNA-sequencing (scRNA-seq) has emerged as a revolutionary tool that allows us to address scientific questions that eluded examination just a few years ago. With the advantages of scRNA-seq come computational challenges that are just beginning to be addressed. In this article, we highlight the computational...

    journal_title:Genome biology

    pub_type: 杂志文章,评审

    doi:10.1186/s13059-016-0927-y

    authors: Bacher R,Kendziorski C

    更新日期:2016-04-07 00:00:00

  • SAGE profiling of the forelimb and hindlimb.

    abstract::A recent study has used serial analysis of gene expression to compare mouse forelimb and hindlimb gene-expression profiles. The method successfully identified known regulators of limb identity and has generated a candidate set of differentially expressed genes that may regulate limb identity. ...

    journal_title:Genome biology

    pub_type: 杂志文章,评审

    doi:10.1186/gb-2002-3-3-reviews1007

    authors: Logan M

    更新日期:2002-01-01 00:00:00

  • The need for speed.

    abstract::DNA sequence data are being produced at an ever-increasing rate. The Bowtie sequence-alignment algorithm uses advanced data structures to help data analysis keep pace with data generation. ...

    journal_title:Genome biology

    pub_type: 评论,杂志文章

    doi:10.1186/gb-2009-10-3-212

    authors: Flicek P

    更新日期:2009-01-01 00:00:00

  • Accelerated exon evolution within primate segmental duplications.

    abstract:BACKGROUND:The identification of signatures of natural selection has long been used as an approach to understanding the unique features of any given species. Genes within segmental duplications are overlooked in most studies of selection due to the limitations of draft nonhuman genome assemblies and to the methodologic...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2013-14-1-r9

    authors: Lorente-Galdos B,Bleyhl J,Santpere G,Vives L,Ramírez O,Hernandez J,Anglada R,Cooper GM,Navarro A,Eichler EE,Marques-Bonet T

    更新日期:2013-01-29 00:00:00

  • A Drosophila protein-interaction map centered on cell-cycle regulators.

    abstract:BACKGROUND:Maps depicting binary interactions between proteins can be powerful starting points for understanding biological systems. A proven technology for generating such maps is high-throughput yeast two-hybrid screening. In the most extensive screen to date, a Gal4-based two-hybrid system was used recently to detec...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2004-5-12-r96

    authors: Stanyon CA,Liu G,Mangiola BA,Patel N,Giot L,Kuang B,Zhang H,Zhong J,Finley RL Jr

    更新日期:2004-01-01 00:00:00

  • Recombination and base composition: the case of the highly self-fertilizing plant Arabidopsis thaliana.

    abstract:BACKGROUND:Rates of recombination can vary among genomic regions in eukaryotes, and this is believed to have major effects on their genome organization in terms of base composition, DNA repeat density, intron size, evolutionary rates and gene order. In highly self-fertilizing species such as Arabidopsis thaliana, howev...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2004-5-7-r45

    authors: Marais G,Charlesworth B,Wright SI

    更新日期:2004-01-01 00:00:00

  • Identification of cyanobacterial non-coding RNAs by comparative genome analysis.

    abstract:BACKGROUND:Whole genome sequencing of marine cyanobacteria has revealed an unprecedented degree of genomic variation and streamlining. With a size of 1.66 megabase-pairs, Prochlorococcus sp. MED4 has the most compact of these genomes and it is enigmatic how the few identified regulatory proteins efficiently sustain the...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2005-6-9-r73

    authors: Axmann IM,Kensche P,Vogel J,Kohl S,Herzel H,Hess WR

    更新日期:2005-01-01 00:00:00

  • A simple strategy for heritable chromosomal deletions in zebrafish via the combinatorial action of targeting nucleases.

    abstract::Precise and effective genome-editing tools are essential for functional genomics and gene therapy. Targeting nucleases have been successfully used to edit genomes. However, whole-locus or element-specific deletions abolishing transcript expression have not previously been reported. Here, we show heritable targeting of...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2013-14-7-r69

    authors: Lim S,Wang Y,Yu X,Huang Y,Featherstone MS,Sampath K

    更新日期:2013-07-01 00:00:00

  • Most partial domains in proteins are alignment and annotation artifacts.

    abstract:BACKGROUND:Protein domains are commonly used to assess the functional roles and evolutionary relationships of proteins and protein families. Here, we use the Pfam protein family database to examine a set of candidate partial domains. Pfam protein domains are often thought of as evolutionarily indivisible, structurally ...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/s13059-015-0656-7

    authors: Triant DA,Pearson WR

    更新日期:2015-05-15 00:00:00

  • Characterization and modeling of the Haemophilus influenzae core and supragenomes based on the complete genomic sequences of Rd and 12 clinical nontypeable strains.

    abstract:BACKGROUND:The distributed genome hypothesis (DGH) posits that chronic bacterial pathogens utilize polyclonal infection and reassortment of genic characters to ensure persistence in the face of adaptive host defenses. Studies based on random sequencing of multiple strain libraries suggested that free-living bacterial s...

    journal_title:Genome biology

    pub_type: 杂志文章

    doi:10.1186/gb-2007-8-6-r103

    authors: Hogg JS,Hu FZ,Janto B,Boissy R,Hayes J,Keefe R,Post JC,Ehrlich GD

    更新日期:2007-01-01 00:00:00