Abstract:
:Single nucleotide polymorphisms (SNPs) are, together with copy number variation, the primary source of variation in the human genome. SNPs are associated with altered response to drug treatment, susceptibility to disease and other phenotypic variation. Furthermore, during genetic screens for disease-associated mutations in groups of patients and control individuals, the distinction between disease causing mutation and polymorphism is often unclear. Annotation of the functional and structural implications of single nucleotide changes thus provides valuable information to interpret and guide experiments. The SNPeffect and PupaSuite databases are now synchronized to deliver annotations for both non-coding and coding SNP, as well as annotations for the SwissProt set of human disease mutations. In addition, SNPeffect now contains predictions of Tango2: an improved aggregation detector, and Waltz: a novel predictor of amyloid-forming sequences, as well as improved predictors for regions that are recognized by the Hsp70 family of chaperones. The new PupaSuite version incorporates predictions for SNPs in silencers and miRNAs including their targets, as well as additional methods for predicting SNPs in TFBSs and splice sites. Also predictions for mouse and rat genomes have been added. In addition, a PupaSuite web service has been developed to enable data access, programmatically. The combined database holds annotations for 4,965,073 regulatory as well as 133,505 coding human SNPs and 14,935 disease mutations, and phenotypic descriptions of 43,797 human proteins and is accessible via http://snpeffect.vib.be and http://pupasuite.bioinfo.cipf.es/.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Reumers J,Conde L,Medina I,Maurer-Stroh S,Van Durme J,Dopazo J,Rousseau F,Schymkowitz Jdoi
10.1093/nar/gkm979subject
Has Abstractpub_date
2008-01-01 00:00:00pages
D825-9issue
Database issueeissn
0305-1048issn
1362-4962pii
gkm979journal_volume
36pub_type
杂志文章abstract::Mitochondrial transcription factor A (TFAM) stimulates transcription from mitochondrial DNA (mtDNA) promoters in vitro and in organello. To investigate whether changes of TFAM levels also modulate transcription and replication in situ, the protein was transiently overexpressed in cultured cells. Mitochondrial mRNAs we...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkh921
更新日期:2004-11-16 00:00:00
abstract::Nuclear factors NF90 and NF45 form a complex involved in a variety of cellular processes and are thought to affect gene expression both at the transcriptional and translational level. In addition, this complex affects the replication of several viruses through direct interactions with viral RNA. NF90 and NF45 dimerize...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gks696
更新日期:2012-10-01 00:00:00
abstract::Hepatitis C virus (HCV) infection is a major cause of human chronic liver disease and hepatocellular carcinoma. G-quadruplex (G4) is an important four-stranded secondary structure of nucleic acids. Recently, we discovered that the core gene of HCV contains a G4 RNA structure; however, the interaction between the HCV c...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gky1177
更新日期:2019-01-10 00:00:00
abstract::We report a crystal structure that shows an antibiotic that extracts a nucleobase from a DNA molecule 'caught in the act' after forming a covalent bond but before departing with the base. The structure of trioxacarcin A covalently bound to double-stranded d(AACCGGTT) was determined to 1.78 A resolution by MAD phasing ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkn245
更新日期:2008-06-01 00:00:00
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
更新日期:1997-12-15 00:00:00
abstract::Deamination of cytosine (C), 5-methylcytosine (mC) and 5-hydroxymethylcytosine (hmC) occurs spontaneously in mammalian DNA with several hundred deaminations occurring in each cell every day. The resulting potentially mutagenic mispairs of uracil (U), thymine (T) or 5-hydroxymethyluracil (hmU) with guanine (G) are subs...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gks259
更新日期:2012-07-01 00:00:00
abstract::LINE-1 (L1) is a highly successful autonomous non-LTR retrotransposon and a major force shaping mammalian genomes. Although there are about 600 000 L1 copies covering 23% of the rat genome, full-length rat L1s (L1Rn) with intact open reading frames (ORFs) representing functional master copies for retrotransposition ha...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkm1045
更新日期:2008-02-01 00:00:00
abstract::Purified 15 S globin mRNA-protein (mRNP) complexes obtained by EDTA dissociation of duck reticulocytes polyribosomes were digested with the calcium dependant Staphylococcus aureus nuclease (EC 3. 1. 4. 7.). 25% of the globin mRNA sequences were resistant to extensive nuclease digestion as determined by TCA precipitati...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/6.8.2787
更新日期:1979-06-25 00:00:00
abstract::A C-->U mutation (rdn5) in the conserved sarcin/ricin domain of yeast 25S rRNA has been shown to cause translational suppression and paromomycin resistance. It also separates the killing from the misreading effect of this antibiotic. We confirm these findings and provide in vitro evidence that rdn5 causes a 3-fold inc...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkh860
更新日期:2004-10-11 00:00:00
abstract::G-quadruplex (G4) DNA structures are linked to key biological processes and human diseases. Small molecules that target specific G4 DNA structures and signal their presence would therefore be of great value as chemical research tools with potential to further advance towards diagnostic and therapeutic developments. Ho...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkz1205
更新日期:2020-02-20 00:00:00
abstract::Enzymes that form transient DNA-protein covalent complexes are targets for several potent classes of drugs used to treat infectious disease and cancer, making it important to establish robust and rapid procedures for analysis of these complexes. We report a method for isolation of DNA-protein adducts and their identif...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gku490
更新日期:2014-07-01 00:00:00
abstract::African trypanosomes are extracellular protozoan parasites that are transmitted from one mammalian host to the next by tsetse flies. Bloodstream forms express variant surface glycoprotein (VSG); the tsetse fly (procyclic) forms express instead the procyclic acidic repetitive protein (PARP). PARP mRNA is abundant in pr...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/24.7.1202
更新日期:1996-04-01 00:00:00
abstract::Calf lens messenger fractions have been purified on poly(dT)-cellulose. The purified RNA's have been analyzed as nucleosides by a method which can be used on a micro-scale with highly reproduceble results. Both the 10S and 14S lens mRNA contain poly A sequences. The poly A content found in 14S mRNA cannot account for ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/1.2.245
更新日期:1974-02-01 00:00:00
abstract::Error-free lesion bypass and error-prone lesion bypass are important cellular responses to DNA damage during replication, both of which require a DNA polymerase (Pol). To identify lesion bypass DNA polymerases, we have purified human Polkappa encoded by the DINB1 gene and examined its response to damaged DNA templates...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/28.21.4138
更新日期:2000-11-01 00:00:00
abstract::The SPARC gene 5'flanking sequence has been shown to contain enhancer elements, but also negative control elements immediately upstream of the enhancer elements. Although these 5'enhancer elements are active in F9 and PYS-2 cells, their activities are nullified by the 5'repressor activity. In the present study we have...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/25.15.3169
更新日期:1997-08-01 00:00:00
abstract::Genome packing in adenovirus has long evaded precise description, since the viral dsDNA molecule condensed by proteins (core) lacks icosahedral order characteristic of the virus protein coating (capsid). We show that useful insights regarding the organization of the core can be inferred from the analysis of spatial di...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkv187
更新日期:2015-04-30 00:00:00
abstract::We developed an integrated method to identify aptamers with only 10 fixed nucleotides through ligation and removal of primer binding sites within the systematic evolution of ligands by exponential enrichment (SELEX) process. This Tailored-SELEX approach was validated by identifying a Spiegelmer ('mirror-image aptamer'...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gng130
更新日期:2003-11-01 00:00:00
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
更新日期:2010-07-01 00:00:00
abstract::Understanding networks of protein-protein interactions constitutes an essential component on a path towards comprehensive description of cell function. Whereas efficient techniques are readily available for the initial identification of interacting protein partners, practical strategies are lacking for the subsequent ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkm563
更新日期:2007-01-01 00:00:00
abstract::Precursor tRNAAsp molecules, containing a 26-base 5' leader, were treated with diethylpyrocarbonate, 50% hydrazine or anhydrous hydrazine/3M NaCl and then subjected to processing by RNase P RNAs from Escherichia coli or Bacillus subtilis. Fully processed tRNAs and material not successfully cleaved by the catalytic RNA...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/19.4.885
更新日期:1991-02-25 00:00:00
abstract::We have formed complexes of relaxed closed circular Col E1 DNA with various combinations of histones, and examined the effects of treating the complexes with nicking-closing enzyme. Germond et al (1) have shown that when a mixture of the four core histones of the nucleosome (HIA, H2B, H3 and H4) is used in such an exp...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/4.5.1159-a
更新日期:1977-01-01 00:00:00
abstract::The DEAH-box NTPase Prp43 disassembles spliceosomes in co-operation with the cofactors Ntr1/Spp382 and Ntr2, forming the NTR complex. How Prp43 is regulated by its cofactors to discard selectively only intron-lariat spliceosomes (ILS) and defective spliceosomes and to prevent disassembly of earlier and properly assemb...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkw1225
更新日期:2017-04-20 00:00:00
abstract::A repeated non-coding DNA sequence d(TTAGGG)n is present in the telomeric ends of all human chromosomes. These repeats can adopt multiple inter and intramolecular non-B-DNA conformations that may play an important role in biological processes. Two intramolecular structures of the telomeric oligonucleotide dAGGG(TTAGGG...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkh875
更新日期:2004-10-08 00:00:00
abstract::The RES complex was previously identified in yeast as a splicing factor affecting nuclear pre-mRNA retention. This complex was shown to contain three subunits, namely Snu17, Bud13 and Pml1, but its mode of action remains ill-defined. To obtain insights into its function, we have performed a structural investigation of...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkn894
更新日期:2009-01-01 00:00:00
abstract::The 5'-cap of spliceosomal small nuclear RNAs, some small nucleolar RNAs and of telomerase RNA was found to be hypermethylated in vivo. The Trimethylguanosine Synthase 1 (TGS1) mediates this conversion of the 7-methylguanosine-cap to the 2,2,7-trimethylguanosine (m(3)G)-cap during maturation of the RNPs. For mammalian...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkp249
更新日期:2009-07-01 00:00:00
abstract::RNA sequencing has become an important method to perform hypothesis-free characterization of global gene expression. One of the limitations of RNA sequencing is that most sequence reads represent highly expressed transcripts, whereas low level transcripts are challenging to detect. To combine the benefits of tradition...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gks816
更新日期:2013-01-07 00:00:00
abstract::Small interfering RNAs (siRNAs) are promising new active compounds in gene medicine but the induction of non-specific immune responses following their delivery continues to be a serious problem. With the purpose of avoiding such effects chemically modified siRNAs are tested in screening assay but often only examining ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gks033
更新日期:2012-05-01 00:00:00
abstract::The Genotyping tool at the National Center for Biotechnology Information is a web-based program that identifies the genotype (or subtype) of recombinant or non-recombinant viral nucleotide sequences. It works by using BLAST to compare a query sequence to a set of reference sequences for known genotypes. Predefined ref...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkh419
更新日期:2004-07-01 00:00:00
abstract::When the function of origins of replication in yeast was compromised by placing ARS sequences downstream of strong promoters, ARS activity might have been affected either by transcription or by an altered chromatin configuration induced by the construct. To distinguish between these possibilities, derivatives of the y...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/22.19.3904
更新日期:1994-09-25 00:00:00
abstract::High throughput sequencing (HTS) platforms generate unprecedented amounts of data that introduce challenges for processing and downstream analysis. While tools that report the 'best' mapping location of each read provide a fast way to process HTS data, they are not suitable for many types of downstream analysis such a...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gku370
更新日期:2014-07-01 00:00:00