Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library.

Abstract:

:Chromosome-specific cDNA libraries are new tools for the isolation of genes from specific genomic regions. We have used two YACs than span the approximately 2-Mb cri-du-chat critical region (CDCCR) of chromosome 5p to directly screen a chromosome 5-specific (CH5SP) fetal brain cDNA library. To compare this library with other sources for new gene discovery, the YACs were hybridized to a normalized infant brain (NIB) cDNA library that has been used extensively for expressed sequence tag (EST) generation. These screens yielded 12 cDNAs from the CH5SP fetal brain library and four cDNAs from the NIB library that mapped to discrete intervals within the CDCCR. Four cDNAs mapped within the minimal CDCCR deletion interval, with the remaining cDNAs being located beyond the boundaries. Only one cDNA shared sequence overlap between the CH5SP and NIB sets of clones. None of the remaining 11 CH5SP cDNAs were homologous to EST sequences, suggesting, in common with previous data on these libraries, that chromosome-specific cDNA libraries are a rich source of new expressed sequences. The single cDNA that did overlap with the NIB library contained two copies of a sequence motif shared with thrombospondin, properdin, and several complement proteins. This motif is usually present in adhesive proteins, and appears to mediate cell-cell or cell-substrate interactions. This new thrombospondin-like gene, and the other three cDNAs that map within the CDCCR, represent candidate genes for the cri-du-chat contiguous gene deletion syndrome.

journal_name

Genome Res

journal_title

Genome research

authors

Simmons AD,Overhauser J,Lovett M

doi

10.1101/gr.7.2.118

subject

Has Abstract

pub_date

1997-02-01 00:00:00

pages

118-27

issue

2

eissn

1088-9051

issn

1549-5469

journal_volume

7

pub_type

杂志文章
  • MicroRNAs reinforce repression of PRC2 transcriptional targets independently and through a feed-forward regulatory network.

    abstract::Gene expression can be regulated at multiple levels, but it is not known if and how there is broad coordination between regulation at the transcriptional and post-transcriptional levels. Transcription factors and chromatin regulate gene expression transcriptionally, whereas microRNAs (miRNAs) are small regulatory RNAs...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.238311.118

    authors: Shivram H,Le SV,Iyer VR

    更新日期:2019-02-01 00:00:00

  • BLAT--the BLAST-like alignment tool.

    abstract::Analyzing vertebrate genomes requires rapid mRNA/DNA and cross-species protein alignments. A new tool, BLAT, is more accurate and 500 times faster than popular existing tools for mRNA/DNA alignments and 50 times faster for protein alignments at sensitivity settings typically used when comparing vertebrate sequences. B...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.229202

    authors: Kent WJ

    更新日期:2002-04-01 00:00:00

  • Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolution.

    abstract::Somatic L1 retrotransposition events have been shown to occur in epithelial cancers. Here, we attempted to determine how early somatic L1 insertions occurred during the development of gastrointestinal (GI) cancers. Using L1-targeted resequencing (L1-seq), we studied different stages of four colorectal cancers arising ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.196238.115

    authors: Ewing AD,Gacita A,Wood LD,Ma F,Xing D,Kim MS,Manda SS,Abril G,Pereira G,Makohon-Moore A,Looijenga LH,Gillis AJ,Hruban RH,Anders RA,Romans KE,Pandey A,Iacobuzio-Donahue CA,Vogelstein B,Kinzler KW,Kazazian HH Jr,Sol

    更新日期:2015-10-01 00:00:00

  • Translation initiation downstream from annotated start codons in human mRNAs coevolves with the Kozak context.

    abstract::Eukaryotic translation initiation involves preinitiation ribosomal complex 5'-to-3' directional probing of mRNA for codons suitable for starting protein synthesis. The recognition of codons as starts depends on the codon identity and on its immediate nucleotide context known as Kozak context. When the context is weak ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.257352.119

    authors: Benitez-Cantos MS,Yordanova MM,O'Connor PBF,Zhdanov AV,Kovalchuk SI,Papkovsky DB,Andreev DE,Baranov PV

    更新日期:2020-07-01 00:00:00

  • The discovery of integrated gene networks for autism and related disorders.

    abstract::Despite considerable genetic heterogeneity underlying neurodevelopmental diseases, there is compelling evidence that many disease genes will map to a much smaller number of biological subnetworks. We developed a computational method, termed MAGI (merging affected genes into integrated networks), that simultaneously in...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.178855.114

    authors: Hormozdiari F,Penn O,Borenstein E,Eichler EE

    更新日期:2015-01-01 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

  • A first-generation whole genome-radiation hybrid map spanning the mouse genome.

    abstract::We have assembled a first-generation anchor map of the mouse genome using a panel of 94 whole-genome-radiation hybrids (WG-RHs) and 271 sequence-tagged sites (STSs). This is the first genome-wide RH anchor map of a model organism. All of the STSs have been previously localized on the genetic map and are located 8.8 Mb...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.7.12.1153

    authors: McCarthy LC,Terrett J,Davis ME,Knights CJ,Smith AL,Critcher R,Schmitt K,Hudson J,Spurr NK,Goodfellow PN

    更新日期:1997-12-01 00:00:00

  • Preference of DNA methyltransferases for CpG islands in mouse embryonic stem cells.

    abstract::Many CpG islands have tissue-dependent and differentially methylated regions (T-DMRs) in normal cells and tissues. To elucidate how DNA methyltransferases (Dnmts) participate in methylation of the genomic components, we investigated the genome-wide DNA methylation pattern of the T-DMRs with Dnmt1-, Dnmt3a-, and/or Dnm...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.2431504

    authors: Hattori N,Abe T,Hattori N,Suzuki M,Matsuyama T,Yoshida S,Li E,Shiota K

    更新日期:2004-09-01 00:00:00

  • Characterization and dynamics of pericentromere-associated domains in mice.

    abstract::Despite recent progress in genome topology knowledge, the role of repeats, which make up the majority of mammalian genomes, remains elusive. Satellite repeats are highly abundant sequences that cluster around centromeres, attract pericentromeric heterochromatin, and aggregate into nuclear chromocenters. These nuclear ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.186643.114

    authors: Wijchers PJ,Geeven G,Eyres M,Bergsma AJ,Janssen M,Verstegen M,Zhu Y,Schell Y,Vermeulen C,de Wit E,de Laat W

    更新日期:2015-07-01 00:00:00

  • Genomic organization of the dog dystroglycan gene DAG1 locus on chromosome 20q15.1-q15.2.

    abstract::Dystroglycan is a laminin binding protein, which provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix. It is also involved in the organization of basement membranes. So far the genomic organization of the dystroglycan gene DAG1 has not been completely investigated. Here we re...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.10.3.295

    authors: Leeb T,Neumann S,Deppe A,Breen M,Brenig B

    更新日期:2000-03-01 00:00:00

  • Topologically associating domains and their long-range contacts are established during early G1 coincident with the establishment of the replication-timing program.

    abstract::Mammalian genomes are partitioned into domains that replicate in a defined temporal order. These domains can replicate at similar times in all cell types (constitutive) or at cell type-specific times (developmental). Genome-wide chromatin conformation capture (Hi-C) has revealed sub-megabase topologically associating ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.183699.114

    authors: Dileep V,Ay F,Sima J,Vera DL,Noble WS,Gilbert DM

    更新日期:2015-08-01 00:00:00

  • A highly efficient procedure for site-specific mutagenesis of full-length plasmids using Vent DNA polymerase.

    abstract::Careful titration of Vent polymerase activity allows efficient amplification of full-length plasmids (12 kb). The high processivity and fidelity of this enzyme made oligonucleotide-directed site-specific mutagenesis of plasmids a straight-forward process. Using only two primers, a mutagenic and a complementary, single...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.5.4.404

    authors: Byrappa S,Gavin DK,Gupta KC

    更新日期:1995-11-01 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

  • A chromosome-level assembly of the Atlantic herring genome-detection of a supergene and other signals of selection.

    abstract::The Atlantic herring is a model species for exploring the genetic basis for ecological adaptation, due to its huge population size and extremely low genetic differentiation at selectively neutral loci. However, such studies have so far been hampered because of a highly fragmented genome assembly. Here, we deliver a ch...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.253435.119

    authors: Pettersson ME,Rochus CM,Han F,Chen J,Hill J,Wallerman O,Fan G,Hong X,Xu Q,Zhang H,Liu S,Liu X,Haggerty L,Hunt T,Martin FJ,Flicek P,Bunikis I,Folkvord A,Andersson L

    更新日期:2019-11-01 00:00:00

  • Multiple major disease-associated clones of Legionella pneumophila have emerged recently and independently.

    abstract::Legionella pneumophila is an environmental bacterium and the leading cause of Legionnaires' disease. Just five sequence types (ST), from more than 2000 currently described, cause nearly half of disease cases in northwest Europe. Here, we report the sequence and analyses of 364 L. pneumophila genomes, including 337 fro...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.209536.116

    authors: David S,Rusniok C,Mentasti M,Gomez-Valero L,Harris SR,Lechat P,Lees J,Ginevra C,Glaser P,Ma L,Bouchier C,Underwood A,Jarraud S,Harrison TG,Parkhill J,Buchrieser C

    更新日期:2016-11-01 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

  • Mutation detection using mass spectrometric separation of tiny oligonucleotide fragments.

    abstract::A DNA mutation detection protocol able to identify and characterize a previously unknown change in a given sequence in a rapid, efficient, sensitive, and inexpensive manner is required to take advantage of the resources now available to researchers through the genome sequencing projects. We have developed a method bas...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.gr-1578r

    authors: Elso C,Toohey B,Reid GE,Poetter K,Simpson RJ,Foote SJ

    更新日期:2002-09-01 00:00:00

  • Molecular genetic maps in wild emmer wheat, Triticum dicoccoides: genome-wide coverage, massive negative interference, and putative quasi-linkage.

    abstract::The main objectives of the study reported here were to construct a molecular map of wild emmer wheat, Triticum dicoccoides, to characterize the marker-related anatomy of the genome, and to evaluate segregation and recombination patterns upon crossing T. dicoccoides with its domesticated descendant Triticum durum (cult...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.150300

    authors: Peng J,Korol AB,Fahima T,Röder MS,Ronin YI,Li YC,Nevo E

    更新日期:2000-10-01 00:00:00

  • Sequential ChIP-bisulfite sequencing enables direct genome-scale investigation of chromatin and DNA methylation cross-talk.

    abstract::Cross-talk between DNA methylation and histone modifications drives the establishment of composite epigenetic signatures and is traditionally studied using correlative rather than direct approaches. Here, we present sequential ChIP-bisulfite-sequencing (ChIP-BS-seq) as an approach to quantitatively assess DNA methylat...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.133728.111

    authors: Brinkman AB,Gu H,Bartels SJ,Zhang Y,Matarese F,Simmer F,Marks H,Bock C,Gnirke A,Meissner A,Stunnenberg HG

    更新日期:2012-06-01 00:00:00

  • Arboretum: reconstruction and analysis of the evolutionary history of condition-specific transcriptional modules.

    abstract::Comparative functional genomics studies the evolution of biological processes by analyzing functional data, such as gene expression profiles, across species. A major challenge is to compare profiles collected in a complex phylogeny. Here, we present Arboretum, a novel scalable computational algorithm that integrates e...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.146233.112

    authors: Roy S,Wapinski I,Pfiffner J,French C,Socha A,Konieczka J,Habib N,Kellis M,Thompson D,Regev A

    更新日期:2013-06-01 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

  • 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

  • From first base: the sequence of the tip of the X chromosome of Drosophila melanogaster, a comparison of two sequencing strategies.

    abstract::We present the sequence of a contiguous 2.63 Mb of DNA extending from the tip of the X chromosome of Drosophila melanogaster. Within this sequence, we predict 277 protein coding genes, of which 94 had been sequenced already in the course of studying the biology of their gene products, and examples of 12 different tran...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.173801

    authors: Benos PV,Gatt MK,Murphy L,Harris D,Barrell B,Ferraz C,Vidal S,Brun C,Demaille J,Cadieu E,Dreano S,Gloux S,Lelaure V,Mottier S,Galibert F,Borkova D,Miñana B,Kafatos FC,Bolshakov S,Sidén-Kiamos I,Papagiannakis G,S

    更新日期:2001-05-01 00:00:00

  • High-throughput plasmid purification for capillary sequencing.

    abstract::The need for expeditious and inexpensive methods for high-throughput DNA sequencing has been highlighted by the accelerated pace of genome DNA sequencing over the past year. At the Joint Genome Institute, the throughput in terms of high-quality bases per day has increased over 20-fold during the past 18 mo, reaching a...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.167801

    authors: Elkin CJ,Richardson PM,Fourcade HM,Hammon NM,Pollard MJ,Predki PF,Glavina T,Hawkins TL

    更新日期:2001-07-01 00:00:00

  • A pooling-based approach to mapping genetic variants associated with DNA methylation.

    abstract::DNA methylation is an epigenetic modification that plays a key role in gene regulation. Previous studies have investigated its genetic basis by mapping genetic variants that are associated with DNA methylation at specific sites, but these have been limited to microarrays that cover <2% of the genome and cannot account...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.183749.114

    authors: Kaplow IM,MacIsaac JL,Mah SM,McEwen LM,Kobor MS,Fraser HB

    更新日期:2015-06-01 00:00:00

  • H3K27me3 forms BLOCs over silent genes and intergenic regions and specifies a histone banding pattern on a mouse autosomal chromosome.

    abstract::In mammals, genome-wide chromatin maps and immunofluorescence studies show that broad domains of repressive histone modifications are present on pericentromeric and telomeric repeats and on the inactive X chromosome. However, only a few autosomal loci such as silent Hox gene clusters have been shown to lie in broad do...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.080861.108

    authors: Pauler FM,Sloane MA,Huang R,Regha K,Koerner MV,Tamir I,Sommer A,Aszodi A,Jenuwein T,Barlow DP

    更新日期:2009-02-01 00:00:00

  • Copy number variation at the breakpoint region of isochromosome 17q.

    abstract::Isochromosome 17q, or i(17q), is one of the most frequent nonrandom changes occurring in human neoplasia. Most of the i(17q) breakpoints cluster within a approximately 240-kb interval located in the Smith-Magenis syndrome common deletion region in 17p11.2. The breakpoint cluster region is characterized by a complex ar...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.080697.108

    authors: Carvalho CM,Lupski JR

    更新日期:2008-11-01 00:00:00

  • Mouse population-guided resequencing reveals that variants in CD44 contribute to acetaminophen-induced liver injury in humans.

    abstract::Interindividual variability in response to chemicals and drugs is a common regulatory concern. It is assumed that xenobiotic-induced adverse reactions have a strong genetic basis, but many mechanism-based investigations have not been successful in identifying susceptible individuals. While recent advances in pharmacog...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.090241.108

    authors: Harrill AH,Watkins PB,Su S,Ross PK,Harbourt DE,Stylianou IM,Boorman GA,Russo MW,Sackler RS,Harris SC,Smith PC,Tennant R,Bogue M,Paigen K,Harris C,Contractor T,Wiltshire T,Rusyn I,Threadgill DW

    更新日期:2009-09-01 00:00:00

  • Sister chromatid telomere fusions, but not NHEJ-mediated inter-chromosomal telomere fusions, occur independently of DNA ligases 3 and 4.

    abstract::Telomeres shorten with each cell division and can ultimately become substrates for nonhomologous end-joining repair, leading to large-scale genomic rearrangements of the kind frequently observed in human cancers. We have characterized more than 1400 telomere fusion events at the single-molecule level, using a combinat...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.200840.115

    authors: Liddiard K,Ruis B,Takasugi T,Harvey A,Ashelford KE,Hendrickson EA,Baird DM

    更新日期:2016-05-01 00:00:00

  • Conservation, regulation, synteny, and introns in a large-scale C. briggsae-C. elegans genomic alignment.

    abstract::A new algorithm, WABA, was developed for doing large-scale alignments between genomic DNA of different species. WABA was used to align 8 million bases of Caenorhabditis briggsae genomic DNA against the entire 97-million-base Caenorhabditis elegans genome. The alignment, including C. briggsae homologs of 154 geneticall...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.10.8.1115

    authors: Kent WJ,Zahler AM

    更新日期:2000-08-01 00:00:00