Abstract:
:HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to provide timely information on the genomic alterations leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical and hematological effects, associated pathology and ethnic occurrence, accompanied by mutation frequencies and references. Here, we report updates to >600 HbVar entries, inclusion of population-specific data for 28 populations and 27 ethnic groups for α-, and β-thalassemias and additional querying options in the HbVar query page. HbVar content was also inter-connected with two other established genetic databases, namely FINDbase (http://www.findbase.org) and Leiden Open-Access Variation database (http://www.lovd.nl), which allows comparative data querying and analysis. HbVar data content has contributed to the realization of two collaborative projects to identify genomic variants that lie on different globin paralogs. Most importantly, HbVar data content has contributed to demonstrate the microattribution concept in practice. These updates significantly enriched the database content and querying potential, enhanced the database profile and data quality and broadened the inter-relation of HbVar with other databases, which should increase the already high impact of this resource to the globin and genetic database community.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Giardine B,Borg J,Viennas E,Pavlidis C,Moradkhani K,Joly P,Bartsakoulia M,Riemer C,Miller W,Tzimas G,Wajcman H,Hardison RC,Patrinos GPdoi
10.1093/nar/gkt911subject
Has Abstractpub_date
2014-01-01 00:00:00pages
D1063-9issue
Database issueeissn
0305-1048issn
1362-4962pii
gkt911journal_volume
42pub_type
杂志文章abstract::Post-translational modifications (such as ubiquitination) of clock proteins are critical in maintaining the precision and robustness of the evolutionarily conserved circadian clock. Ubiquitination of the core clock transcription factor BMAL1 (brain and muscle Arnt-like 1) has recently been reported. However, it remain...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gku225
更新日期:2014-05-01 00:00:00
abstract::To determine whether methylation changes in specific DNA sequences of the albumin and AFP genes are implicated in the modulation of transcriptional activity during rat liver development and neoplasia we have analysed the methylation pattern of C-C-G-G sequences within these genes in DNA isolated from fetal and adult h...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/11.13.4335
更新日期:1983-07-11 00:00:00
abstract::The Aspergillus nidulans sequence ans1, previously known to enhance transformation frequencies of pyr4-based vectors, was shown to enhance the efficiency of argB and trpC-based vectors. Increased efficiencies could be obtained by constructing vectors containing argB and ans1 or by cotransforming selectable plasmids (c...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/15.22.9163
更新日期:1987-11-25 00:00:00
abstract::We have studied the effect of selenium on the expression of a cellular glutathione peroxidase, GSHPx-1, in transfected MCF-7 cells and in doxorubicin-resistant (Adrr) MCF-7 cells. A GSHPx-1 cDNA with a Rous Sarcoma virus promoter was transfected into a human mammary carcinoma cell line, MCF-7, which has very low endog...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/18.6.1531
更新日期:1990-03-25 00:00:00
abstract::Earlier studies in DNA self-assembly have foretold the feasibility of building addressable nanostructures with multi-stranded motifs, which is fully validated in this study. In realizing this feasibility in DNA nanotechnology, a diversified set of motifs of modified domain lengths is extended from a classic type. The ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkx121
更新日期:2017-04-07 00:00:00
abstract::Advancement in the field of computational research has made it possible for the in silico methods to offer significant benefits to both regulatory needs and requirements for risk assessments, and pharmaceutical industry to assess the safety profile of a chemical. Here, we present ProTox-II that incorporates molecular ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gky318
更新日期:2018-07-02 00:00:00
abstract::Genomic DNA methylation contributes substantively to transcriptional regulations that underlie mammalian development and cellular differentiation. Much effort has been made to decipher the molecular mechanisms governing the establishment and maintenance of DNA methylation patterns. However, little is known about genom...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkr017
更新日期:2011-05-01 00:00:00
abstract::The underlying mechanism of transcriptional co-repressor ETO2 during early erythropoiesis and hemoglobin switching is unclear. We find that absence of ETO2 in mice interferes with down-regulation of PU.1 and GATA2 in the fetal liver, impeding a key step required for commitment to erythroid maturation. In human β-globi...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkaa736
更新日期:2020-10-09 00:00:00
abstract::Kaposi's sarcoma-associated herpesvirus encodes four viral homologues to cellular interferon regulatory factors (IRFs), where the most studied is vIRF-1. Even though vIRF-1 shows sequence homology to the N-terminal DNA-binding domain (DBD) of human IRFs, a specific role for this domain in vIRF-1's function has remaine...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkt082
更新日期:2013-04-01 00:00:00
abstract::Alternative splicing is the primary source of proteome complexity in metazoans and its regulation shapes the proteome in response to shifting physiological requirements. We developed a bichromatic splicing reporter that uses a peculiar feature of some fluorescent protein coding regions to express two different fluores...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkl967
更新日期:2006-01-01 00:00:00
abstract::Zinc finger protein with KRAB and SCAN domains 3 (ZKSCAN3) has long been known as a master transcriptional repressor of autophagy. Here, we identify a novel role for ZKSCAN3 in alleviating senescence that is independent of its autophagy-related activity. Downregulation of ZKSCAN3 is observed in aged human mesenchymal ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkaa425
更新日期:2020-06-19 00:00:00
abstract::Cisplatin analogues were synthesised that consisted of platinum(II) diamine complexes tethered via a polymethylene chain ( n = 3, 5, 8 and 10) to a phenanthridinium cation. Both chloro and iodo leaving groups were examined. DNA adduct formation was quantitatively analysed using a linear amplification system with the p...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/26.17.3933
更新日期:1998-09-01 00:00:00
abstract::By successively assembling genetic parts such as BioBrick according to grammatical models, complex genetic constructs composed of dozens of functional blocks can be built. However, usually every category of genetic parts includes a few or many parts. With increasing quantity of genetic parts, the process of assembling...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkx859
更新日期:2017-12-15 00:00:00
abstract::We report here the discovery of HMBP, a protein in nuclei of human T-helper lymphocytes and other human cell types, which binds with enhanced affinity to a promoter element in the HIV-1 long terminal repeat when that element is methylated at CpGs, the target site of the human DNA methyltransferase. This promoter eleme...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/21.24.5786
更新日期:1993-12-11 00:00:00
abstract::The binding kinetics of NF-kappaB p50 to the Ig-kappaB site and to a DNA duplex with no specific binding site were determined under varying conditions of potassium chloride concentration using a surface plasmonresonance biosensor. Association and dissociation rate constants were measured enabling calculation of the di...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/27.4.1063
更新日期:1999-02-15 00:00:00
abstract::Splicing is a biological phenomenon that removes the non-coding sequence from the transcripts to produce a mature transcript suitable for translation. To study this phenomenon, information on the intron-exon arrangement of a gene is essential, usually obtained by aligning mRNA/EST sequences to their cognate genomic se...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkg561
更新日期:2003-07-01 00:00:00
abstract::A recently reported cDNA clone coding for human promyelocytic L apoferritin, shows some differences with a liver L apoferritin cDNA. We have investigated if these differences are due to the expression of different genes or to an alternative transcription of an unique gene. In this paper we report data suggesting that ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/14.7.2863
更新日期:1986-04-11 00:00:00
abstract::DNA circuit is a versatile and highly-programmable toolbox which can potentially be used for the autonomous sensing of dynamic events, such as biomolecular interactions. However, the experimental implementation of in silico circuit designs has been hindered by the problem of circuit leakage. Here, we systematically an...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkw447
更新日期:2016-08-19 00:00:00
abstract::We have studied the effect of temperature on transcription initiation in vitro at two related promoters ga/Pcon and ga/P1, which have the same nucleotide sequence around the -10 region and transcription start site, but differ in upstream sequences. One of the promoters, ga/Pcon, carries the consensus -35 hexamer, 5'TT...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/19.22.6113
更新日期:1991-11-25 00:00:00
abstract::The alcohol dehydrogenase (Adh) gene of D. melanogaster is transcribed from two different promoters during fly development: the distal (adult) and the proximal (embryonic-larval). Certain aspects of Adh gene regulation are represented in Drosophila continuous cell lines. We have used Drosophila tissue culture cells in...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/15.19.7903
更新日期:1987-10-12 00:00:00
abstract::Unmodified tRNA molecules are useful for many purposes in cell-free protein biosynthesis, but there is little information about how the lack of tRNA post-transcriptional modifications affects the coding specificity for synonymous codons. In the present study, we prepared an unmodified form of Escherichia coli tRNA1Ser...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/24.15.2894
更新日期:1996-08-01 00:00:00
abstract::Bacterial tyrosine-kinases share no resemblance with their eukaryotic counterparts and they have been unified in a new protein family named BY-kinases. These enzymes have been shown to control several biological functions in the bacterial cells. In recent years biochemical studies, sequence analyses and structure reso...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkr915
更新日期:2012-01-01 00:00:00
abstract::Human transcription factor IIIC contains a 55 kDa polypeptide which specifically interacts with the Adenovirus 2 VAI gene promoter and which mimics most of the DNA binding properties of the entire factor. The specificity and affinity of this protein:DNA interaction was demonstrated by: (i) Separation of purified fract...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/18.16.4743
更新日期:1990-08-25 00:00:00
abstract::In the virion core of retroviruses, the genomic RNA is tightly associated with nucleocapsid (NC) protein molecules, forming the nucleocapsid structure. NC protein, a highly basic protein with two zinc fingers, is indispensable for RNA dimerization, encapsidation and the initiation of reverse transcription in avian, mu...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/21.4.831
更新日期:1993-02-25 00:00:00
abstract::DNA polymerase lambda (pol lambda) is a member of the X family DNA polymerases and is endowed with multiple enzymatic activities. In this work we investigated the in vitro miscoding properties of full-length, human pol lambda either in the absence or in the presence of the human auxiliary proteins proliferating cell n...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkl032
更新日期:2006-03-06 00:00:00
abstract::The binding of transposase (Tnp) to the specific Tn5 end sequences is the first dedicated reaction during transposition. In this study, comparative DNA-binding analyses were performed using purified full-length Tnp and a C-terminal deletion variant (delta369) that lacks the putative dimerization domain. The shape of t...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/24.19.3790
更新日期:1996-10-01 00:00:00
abstract::Restriction endonuclease Bse634I recognizes and cleaves the degenerate DNA sequence 5'-R/CCGGY-3' (R stands for A or G; Y for T or C, '/' indicates a cleavage position). Here, we report the crystal structures of the Bse634I R226A mutant complexed with cognate oligoduplexes containing ACCGGT and GCCGGC sites, respectiv...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gks300
更新日期:2012-08-01 00:00:00
abstract::The small subunit (SSU) processome is a large ribonucleoprotein that is required for maturation of the 18S rRNA of the ribosome. Recently, a missense mutation in the C-terminus of an SSU processome protein, Utp4/Cirhin, was reported to cause North American Indian childhood cirrhosis (NAIC). In this study, we use Sacch...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkq185
更新日期:2010-08-01 00:00:00
abstract::Transcription of ribosomal RNA genes is generally accepted to correlate with cell growth. Using primary cultures of adult bovine aortic endothelial (ABAE) cells, we have shown that transcription of rDNA in confluent cells falls to 5% of the transcription level in growing cells. Protein kinase NII appears to be a limit...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/17.16.6625
更新日期:1989-08-25 00:00:00
abstract::Integrating DNA delivery systems hold promise for many applications including treatment of diseases; however, targeted integration is needed for improved safety. The piggyBac (PB) transposon system is a highly active non-viral gene delivery system capable of integrating defined DNA segments into host chromosomes witho...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkx572
更新日期:2017-08-21 00:00:00