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    DNASE2 deoxyribonuclease 2, lysosomal [ Homo sapiens (human) ]

    Gene ID: 1777, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

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    GeneRIFPubMed TitleDate
    Study of the copy number variations (CNVs) for DNASE1L3 and DNASE2 in Japanese and German populations found that only 2 diploid copy numbers for these DNASE CNVs was distributed in both populations; no copy loss or gain was evident for any of the autoimmune-related DNase genes. These human autoimmune-related DNase genes show low genetic diversity of CNVs resulting in alterations of the in vivo levels of DNase activity.

    Low genetic heterogeneity of copy number variations (CNVs) in the genes encoding the human deoxyribonucleases 1-like 3 and II potentially relevant to autoimmunity.
    Ueki M, Fujihara J, Kimura-Kataoka K, Yamada K, Takinami Y, Takeshita H, Iida R, Yasuda T., Free PMC Article

    		02/15/2020
    DNase2 participate in the degradation of DNA during cornification in the interfollicular epidermis of mice.Cornification of epidermal keratinocytes depends on the cooperation of DNase1L2 and DNase2.

    Inactivation of DNase1L2 and DNase2 in keratinocytes suppresses DNA degradation during epidermal cornification and results in constitutive parakeratosis.
    Fischer H, Buchberger M, Napirei M, Tschachler E, Eckhart L., Free PMC Article

    		03/9/2019
    Study identifies biallelic mutations in DNASE2, associated with a loss of DNase II endonuclease activity causing type I interferonopathy in three patients from two unrelated families.

    Type I interferon-mediated autoinflammation due to DNase II deficiency.
    Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ., Free PMC Article

    		10/6/2018
    Single nucleotide polymorphisms producing a loss-of-function variant of the enzymes in DNASE1, DNASE1L3, and DNASE2, possibly serving as a genetic risk factor for autoimmune diseases, were confirmed.

    Functional Single Nucleotide Polymorphisms (SNPs) in the Genes Encoding the Human Deoxyribonuclease (DNase) Family Potentially Relevant to Autoimmunity.
    Fujihara J, Ueki M, Kimura-Kataoka K, Iida R, Takeshita H, Yasuda T.

    		04/1/2017
    15 nonsynonymous human DNase II SNPs were genotyped in three ethnic groups including 16 different populations using the PCR-restriction fragment length polymorphism technique.

    Seven nonsynonymous SNPs in the gene encoding human deoxyribonuclease II may serve as a functional SNP potentially implicated in autoimmune dysfunction.
    Kimura-Kataoka K, Ueki M, Takeshita H, Fujihara J, Iida R, Kato H, Yasuda T.

    		07/12/2014
    study demonstrated the relationship of genotypes/haplotypes with the in vivo DNase II and promoter activities; significant correlations between genotype in each rheumatoid arthritis (RA)-related SNP and enzymatic activity levels were found; alleles associated with RA exhibited a reduction in serum DNase II activity.

    Genetic and expression analysis of SNPs in the human deoxyribonuclease II: SNPs in the promoter region reduce its in vivo activity through decreased promoter activity.
    Kimura-Kataoka K, Yasuda T, Fujihara J, Toga T, Ono R, Otsuka Y, Ueki M, Iida R, Sano R, Nakajima T, Kominato Y, Kato H, Takeshita H.

    		03/2/2013
    The association of SNPs in the 5'-regulatory region of the DNA degrading enzyme DNASE2 with Rheumatoid Arthritis implies a role for this enzyme in the pathogenesis of this autoimmune disease.

    Homozygosity for DNASE2 single nucleotide polymorphisms in the 5'-regulatory region is associated with rheumatoid arthritis.
    Rossol M, Pierer M, Arnold S, Keysser G, Burkhardt H, Baerwald C, Wagner U, Rossol M, Pierer M, Arnold S, Keysser G, Burkhardt H, Baerwald C, Wagner U.

    		01/21/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Homozygosity for DNASE2 single nucleotide polymorphisms in the 5'-regulatory region is associated with rheumatoid arthritis.
    Rossol M, Pierer M, Arnold S, Keysser G, Burkhardt H, Baerwald C, Wagner U, Rossol M, Pierer M, Arnold S, Keysser G, Burkhardt H, Baerwald C, Wagner U.

    		10/8/2008
    Observational study of gene-disease association. (HuGE Navigator)

    DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients.
    Shin HD, Park BL, Cheong HS, Lee HS, Jun JB, Bae SC.

    		03/13/2008
    upregulation of expression during myelomonocytic differentiation of HL-60 and THP-1 cells

    Up-regulation of human deoxyribonuclease II gene expression during myelomonocytic differentiation of HL-60 and THP-1 cells.
    Chou SF, Chen HL, Lu SC.

    		01/21/2010
    Sp1 and Sp3 are involved in up-regulation of this enzyme's transcriptoin during cell differentiation of hl-60 cells.

    Sp1 and Sp3 are involved in up-regulation of human deoxyribonuclease II transcription during differentiation of HL-60 cells.
    Chou SF, Chen HL, Lu SC.

    		01/21/2010
    the enzyme is a monomeric phospholipase D-family member with a pseudodimeric protein fold

    Human lysosomal DNase IIalpha contains two requisite PLD-signature (HxK) motifs: evidence for a pseudodimeric structure of the active enzyme species.
    Schäfer P, Cymerman IA, Bujnicki JM, Meiss G., Free PMC Article

    		01/21/2010
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