Property Summary

NCBI Gene PubMed Count 79
PubMed Score 351.28
PubTator Score 526.76

Knowledge Summary

Patent

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Expression

Gene RIF (59)

PMID Text
26547219 in Iranians the 3/6 genotype frequency was significantly higher in systemic lupus erythematosus patients than in healthy controls which implies the possible role of this genotype in SLE susceptibility; the 3/4 and 4/6 genotype frequencies were remarkably high in the control group which indicated the protective role of these genotypes against the disease
26393465 Val66Met in the BDNF gene and two SNPs, Fokl and Apal, in the VDR gene may potentially be associated with DED. Additionally, the association between DED and Val66Met may vary by depression status.
26065428 TNF-alpha amplifies DNaseI expression in renal tubular cells while IL-1beta promotes nuclear DNaseI translocation in inactive form in lupus nephritis.
25771153 HumDN1 polymorphisms were examined in blood of 11 worldwide populations by polymerase chain reaction. 15 genotypes were found leading to the conclusion that HumDN1 variable no. tandem repeats are ethnic group specific.
24819173 Characterization of the nonsynonymous single-nucleotide polymorphism variants of human DNASE1.
24676545 In conclusion, elevated DNase I in diabetes may be related to pancreatic injury and could be one of the causes that induce diabetes.
24564745 Our results indicate that increased DNASE1 expression is common to both SLE and RA, while DNase1 reduction activity is specific to SLE.
24206041 Single nucleotide polymorphisms in the DNASE1 is associated with autoimmune diseases.
23963431 DNAse I Q222R polymorphism is a potential genetic risk factor for systemic lupus erythematosus in South Indian Tamils. In addition, the mutant allele confers a significant risk for lupus nephritis.
23273922 Early mesangial nephritis initiates a cascade of inflammatory signals that lead to up-regulation of Trap1 and a consequent down-regulation of renal DNaseI by transcriptional interference.
23225239 a downregulation of the DNASE1 mRNA expression in patients with autoimmune thyroid disease. This might result in degrading less DNA from dying cells, thereby promoting the development of thyroid autoimmunity.
23215638 The novel structure of rhDNase I presented herein reveals the precise location and coordination sphere of the Mg2+ ion bound at subsite IVb along with the orientation of key side chains in the active site.
23183758 DNase I activity in systemic lupus erythematosus patients was lower than in healthy controls
22479529 silencing of renal DNaseI gene expression initiates a cascade of inflammatory signals including activation of Toll like receptors and Clec4e, leading to progression of both murine and human lupus nephritis
22094313 POU1F1 binds to multiple sites at deoxyribonuclease I hypersensitive site II.
21282512 In thymocyte-selected CD4 T cells (T-CD4 T cells) DNase I hypersensitive sites at the 3'-enhancer region of interleukin-4 play an essential role during the induction of IL-4 expression.
21235399 The genetic aspects of DNASE1 with regard to all the SNPs in wide-ranging ethnic groups could be first demonstrated. Further, there was no correlation of all the polymorphic SNPs other than nonsynonymous ones with serum DNase I activity levels.
21233855 Modified DNase1 can efficiently eliminate apoptosis-resistant cancer cells through apoptosis.
20856893 Reduction in renal Dnase1 expression and activity is limited to mice and SLE patients with signs of membranoproliferative nephritis, and may be a critical event in the development of severe forms of lupus nephritis.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20439745 show that serum endonuclease DNase1 is essential for disassembly of neutrophil extracellular traps.
20417303 The objectives of this study were to clarify genetic and biochemical aspects of 12 non-synonymous SNPs in the human gene (DNASE1), potentially giving rise to an alteration in the in vivo DNase I activity levels.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19863681 A significant association of HumDN1 Variable Number of Tandem Repeats polymorphism in DNASE1 gene with systemic lupus erythematosus, is reported.
19863681 Observational study of gene-disease association. (HuGE Navigator)
19844716 Low DNase1 activity is associated to the active phase of type III or IV lupus erythromatosus nephropathy.
19362700 deficiency is linked to systemic lupus erythematosus
19360410 Show no particular variant in exon2 sequence of DNASE1 gene among Tunisian patients affected with systemic lupus erythematosus, rheumatoid arthritis and Sjogren syndrome and healthy subjects.
19360410 Observational study of gene-disease association. (HuGE Navigator)
19318394 DNase1 (deoxyribonuclease I) activity was significantly lower in patients with Systemic lupus erythematosus than in controls.
19181929 human recombinant DNase I up-regulates cell surface Fas expression and induces increased susceptibility of T cells to Fas-mediated apoptosis
19055475 DNASE1 polymorphism appears to affect the specific activity, heat sensitivity, and optimum pH of the DNase I enzyme.
19055475 Observational study of genotype prevalence. (HuGE Navigator)
19022625 In patients with autoimmune thyroid disease (AITD), a novel mutation (1218G>A, exon 5) and multiple polymorphisms were identified in the DNASE1 gene.
19022625 Observational study of gene-disease association. (HuGE Navigator)
18311594 Han Chinese myocardial infarction (MI) patients, but deoxyribonuclease I gene polymorphisms are not associated with susceptibility to MI in Han Chinese
18311594 Observational study of gene-disease association. (HuGE Navigator)
18174230 Observational study of gene-disease association. (HuGE Navigator)
17588132 Compared to other ethnic populations, Han Chinese had its own unique DNase I gene distribution characteristics
17588132 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17405189 This study is the first to reveal an extremely high frequency of DNASE1*1 among African populations. Caucasians and Asians had a lower frequency of DNASE1*1 than the African groups.
17405189 Observational study of genotype prevalence. (HuGE Navigator)
17360785 Observational study of gene-disease association. (HuGE Navigator)
17320453 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17032129 Observational study of genotype prevalence. (HuGE Navigator)
16877481 Observational study of gene-disease association. (HuGE Navigator)
16771825 human DNASE1 expression is regulated through the use of alternative promoter and alternative splicing
16449364 Observational study of gene-disease association. (HuGE Navigator)
16382368 Observational study of genotype prevalence. (HuGE Navigator)
16352456 Results describe chromatin disposal during necrosis and the involvement of Deoxyribonuclease 1 in this process with respect to its possible role in the prevention of anti-nuclear auto-immunity.
15363449 Observational study of genotype prevalence. (HuGE Navigator)
15333586 Observational study of gene-disease association. (HuGE Navigator)
15188364 serum Dnase1 in cooperation with the plasminogen system guarantees a fast and effective breakdown of chromatin during necrosis by the combined cleavage of DNA as well as of DNA binding proteins
14688237 The studies of immunological properties and the tissue-distribution patterns of DNase I indicated that the canine enzyme is more closely related to the human DNase I than to other mammalian DNases I
14613299 The A/T mutation of the DNASE1 gene is absent in both Tunisian systemic lupus erythematosus and in controls.
12708782 Deficiencies in this gene may contribute to SLE; gene therapy might be possible (REVIEW)
12005024 results show that the chief cells of the stomach produce DNase I
11332641 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MRGMKLLGALLALAALLQGAVSLKIAAFNIQTFGETKMSNATLVSYIVQILSRYDIALVQEVRDSHLTAV      1 - 70
GKLLDNLNQDAPDTYHYVVSEPLGRNSYKERYLFVYRPDQVSAVDSYYYDDGCEPCGNDTFNREPAIVRF     71 - 140
FSRFTEVREFAIVPLHAAPGDAVAEIDALYDVYLDVQEKWGLEDVMLMGDFNAGCSYVRPSQWSSIRLWT    141 - 210
SPTFQWLIPDSADTTATPTHCAYDRIVVAGMLLRGAVVPDSALPFNFQAAYGLSDQLAQAISDHYPVEVM    211 - 280
LK                                                                        281 - 282
//

Text Mined References (79)

PMID Year Title
26547219 2016 Deoxyribonuclease I gene polymorphism and susceptibility to systemic lupus erythematosus.
26393465 2015 Single Nucleotide Polymorphisms in the BDNF, VDR, and DNASE 1 Genes in Dry Eye Disease Patients: A Case-Control Study.
26065428 2015 TNF? Amplifies DNaseI Expression in Renal Tubular Cells while IL-1? Promotes Nuclear DNaseI Translocation in an Endonuclease-Inactive Form.
25771153 2015 Global analysis of genetic variations in a 56-bp variable number of tandem repeat polymorphisms within the human deoxyribonuclease I gene.
24819173 2014 Identification of the functional alleles of the nonsynonymous single-nucleotide polymorphisms potentially implicated in systemic lupus erythematosus in the human deoxyribonuclease I gene.
24676545 2014 Increased DNase I activity in diabetes might be associated with injury of pancreas.
24564745 2014 Influence of HumDN1 VNTR polymorphism on DNASE1 expression in systemic lupus erythematosus and rheumatoid arthritis.
24206041 2014 Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity.
23963431 2013 Q222R polymorphism in DNAse I gene is a risk factor for nephritis in South Indian SLE patients.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23273922 2013 Impact of the tumor necrosis factor receptor-associated protein 1 (Trap1) on renal DNaseI shutdown and on progression of murine and human lupus nephritis.
23225239 2013 Reduced DNASE1 gene expression in thyroid autoimmunity.
23215638 2012 The structure of human DNase I bound to magnesium and phosphate ions points to a catalytic mechanism common to members of the DNase I-like superfamily.
23183758 2013 Serum DNase I activity in systemic lupus erythematosus: correlation with immunoserological markers, the disease activity and organ involvement.
22479529 2012 Silencing of renal DNaseI in murine lupus nephritis imposes exposure of large chromatin fragments and activation of Toll like receptors and the Clec4e.
22094313 2012 POU1F1-mediated activation of hGH-N by deoxyribonuclease I hypersensitive site II of the human growth hormone locus control region.
21282512 2011 Induction and maintenance of IL-4 expression are regulated differently by the 3' enhancer in CD4 T cells.
21235399 2011 Functional and genetic survey of all known single-nucleotide polymorphisms within the human deoxyribonuclease I gene in wide-ranging ethnic groups.
21233855 2011 Engineering a waste management enzyme to overcome cancer resistance to apoptosis: adding DNase1 to the anti-cancer toolbox.
20856893 2010 Renal Dnase1 enzyme activity and protein expression is selectively shut down in murine and human membranoproliferative lupus nephritis.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20439745 2010 Impairment of neutrophil extracellular trap degradation is associated with lupus nephritis.
20417303 2010 A biochemical and genetic study on all non-synonymous single nucleotide polymorphisms of the gene encoding human deoxyribonuclease I potentially relevant to autoimmunity.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19863681 2010 Molecular analysis of HumDN1 VNTR polymorphism of the human deoxyribonuclease I in systemic lupus erythematosus.
19844716 2010 DNase1 activity in systemic lupus erythematosus patients with and without nephropathy.
19362700 2009 Regulation of the cytosolic DNA-sensing system in innate immunity: a current view.
19360410 2009 DNase1 exon2 analysis in Tunisian patients with rheumatoid arthritis, systemic lupus erythematosus and Sjögren syndrome and healthy subjects.
19318394 2009 DNase 1 activity in patients with systemic lupus erythematosus: relationship with epidemiological, clinical, immunological and therapeutical features.
19181929 2009 Serum DNase I, soluble Fas/FasL levels and cell surface Fas expression in patients with SLE: a possible explanation for the lack of efficacy of hrDNase I treatment.
19055475 2009 Gln222Arg (A2317G) polymorphism in the deoxyribonuclease I gene exhibits ethnic and functional differences.
19022625 2009 A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity.
18311594 2009 Association of deoxyribonuclease I genetic polymorphisms with myocardial infarction in Han Chinese.
18174230 2008 Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.
17588132 2008 Deoxyribonuclease I gene polymorphism in Han Chinese population: frequency and effect on glucose and lipid parameters.
17405189 Extremely high prevalence of DNASE1*1 allele in African populations.
17360785 2007 Study of DNASE I gene polymorphisms in systemic lupus erythematosus susceptibility.
17320453 2007 Two deoxyribonuclease I gene polymorphisms and correlation between genotype and its activity in Japanese population.
17032129 2006 Frequency of a single nucleotide (A2317G) and 56-bp variable number of tandem repeat polymorphisms within the deoxyribonuclease I gene in five ethnic populations.
16877481 2006 Association of Gln222Arg polymorphism in the deoxyribonuclease I (DNase I) gene with myocardial infarction in Japanese patients.
16771825 2006 Characterization of human deoxyribonuclease I gene (DNASE1) promoters reveals the utilization of two transcription-starting exons and the involvement of Sp1 in its transcriptional regulation.
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
16449364 2006 Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility.
16382368 2005 Analysis of genetic polymorphism of deoxyribonuclease I in Ovambo and Turk populations using a genotyping method.
16352456 2006 Systemic lupus-erythematosus: deoxyribonuclease 1 in necrotic chromatin disposal.
15711563 2005 Actin and hnRNP U cooperate for productive transcription by RNA polymerase II.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15363449 2004 A novel 56-bp variable tandem repeat polymorphism in the human deoxyribonuclease I gene and its population data.
15333586 2004 Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients.
15188364 2004 Chromatin breakdown during necrosis by serum Dnase1 and the plasminogen system.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14688237 2003 Molecular, biochemical and immunological analyses of canine pancreatic DNase I.
14613299 2003 The A/T mutation in exon 2 of the DNASE1 gene is not present in Tunisian patients with systemic lupus erythematosus or in healthy subjects.
12849983 2003 Production of human skeletal alpha-actin proteins by the baculovirus expression system.
12708782 2003 Lupus and desoxyribonuclease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12005024 DNase I is present in the chief cells of human and rat stomachs.
11707283 2001 Interaction of ADP-ribosylated actin with actin binding proteins.
11479590 2001 Mutation of DNASE1 in people with systemic lupus erythematosus.
11474115 2001 The crystal structure of uncomplexed actin in the ADP state.
11332641 2001 Geographical north-south decline in DNASE1*2 in Japanese populations.
11241278 2001 DNase I mediates internucleosomal DNA degradation in human cells undergoing drug-induced apoptosis.
10381379 1999 A new allele, DNASE1*6, of human deoxyribonuclease I polymorphism encodes an Arg to Cys substitution responsible for its instability.
9420147 1997 The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism.
8792814 1996 Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I).
8586059 1995 Genotyping of human deoxyribonuclease I polymorphism by the polymerase chain reaction.
7867802 1995 The molecular basis for genetic polymorphism of human deoxyribonuclease I: identification of the nucleotide substitution that generates the fourth allele.
7789176 1995 Chromosomal assignment of the human deoxyribonuclease I gene, DNASE 1 (DNL1), to band 16p13.3 using the polymerase chain reaction.
7762978 1995 Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism.
7625762 1995 Molecular analysis of the third allele of human deoxyribonuclease I polymorphism.
3263467 1988 A human urine-derived interleukin 1 inhibitor. Homology with deoxyribonuclease I.
2921043 1989 Genetic polymorphism of human urine deoxyribonuclease I.
2395459 1990 Atomic structure of the actin:DNase I complex.
2349940 1990 Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas.
2277032 1990 Human genetically polymorphic deoxyribonuclease: purification, characterization, and multiplicity of urine deoxyribonuclease I.
2251263 1990 Recombinant human DNase I reduces the viscosity of cystic fibrosis sputum.