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Gene Review

DNASE1  -  deoxyribonuclease I

Homo sapiens

Synonyms: DNL1, DNase I, DRNI, Deoxyribonuclease I, Deoxyribonuclease-1
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Disease relevance of DNASE1


High impact information on DNASE1


Chemical compound and disease context of DNASE1


Biological context of DNASE1

  • Family studies showed that the three common phenotypes - DNASE1 1, 1-2, and 2 - and the other four rare phenotypes - DNASE1 1-3, 2-3, 2-4, and 3-4 - represent homozygosity or heterozygosity for four autosomal codominant alleles, DNASE1*1, *2, *3, and *4 [15].
  • To localize the human deoxyribonuclease I (DNase I) gene, DNASE1 (DNL1), we performed a polymerase chain reaction (PCR) using DNA extracted from a panel of cloned human x rodent hybrid cell lines carrying different human chromosomes and screened for the presence of the expected PCR products [16].
  • Turks had the highest allele frequency for DNASE1 *2, HumDN1 *4, and HumDN1 *5 [2].
  • Conclusions: This study is the first to demonstrate the simultaneous genotyping of DNASE1 and HumDN1 polymorphisms and reveal the existence of a certain genetic heterogeneity in the worldwide distribution of these two polymorphisms [2].
  • These results suggest that human DNASE1 expression is regulated through the use of alternative promoter and alternative splicing [3].

Anatomical context of DNASE1

  • Furthermore, RT-PCR analysis indicated alternative splicing of human DNASE1 pre-mRNA in pancreas and QGP-1 cells [3].
  • Dornase alfa has been found to increase the pourability and reduce the viscoelasticity of CF sputum in vitro and, in an animal model, to increase its mucociliary transportability [17].
  • The illegitimate apo A-II transcriptional activity observed in Caco-2 cells is linked to the presence of DNase-I hypersensitive sites within the enhancer [18].
  • DNase-I hypersensitive sites were detected within 1 kbp upstream of exon I in chromatin structures of type II pneumocyte cell line A549 and utero-cervical cell line HeLa, both of which express SLPI mRNA transcripts [19].
  • Whole egg mounts, egg fragments, cryosections, and cortical membrane patches probed with rhodamine phalloidin, fluorescent DNase-I, or anti-actin antibody showed the cortical cytoskeleton to contain two domains of actin: filamentous and nonfilamentous [20].

Associations of DNASE1 with chemical compounds

  • Persistence of the ten-nucleotide repeat in chromatin unfolded in urea, as revealed by digestion with deoxyribonuclease i [21].
  • A large-scale, long-term, Phase III clinical trial, consisting of a 24-week double-blind period and a 24-week open-label extension, confirmed these findings and further demonstrated that dornase alfa reduces the incidence of respiratory tract infectious exacerbations requiring parenteral antibiotic therapy [17].
  • Chromatin bound thyroid hormone receptor and v-erbA generate Dnase I hypersensitive sites independent of ligand [22].
  • The 52-kilodalton Dnase was purified in the active form to near homogeneity by ammonium sulfate precipitation and successive chromatographies on phosphocellulose, DNA-cellulose, and gel filtration columns [23].
  • Sites of preferential DNase-I nicking were made visible by the incorporation of biotin-labeled dUTP and subsequent binding of the streptavidin-peroxidase complex [24].

Regulatory relationships of DNASE1

  • For example, the differentially methylated 5 -portion of the human SNRPN gene-a sequence element that controls imprinting in the Prader-Willi and Angelman syndromes' domain on chromosome 15q11- q13-has strong DNase-I hypersensitive sites on the unmethylated paternal chromosome (4) [25].

Other interactions of DNASE1

  • Total RNA was treated with 0.5 units of Rnase-free Dnase/mg of RNA to remove any contaminating DNA [26].
  • Chromosomal assignment of the human deoxyribonuclease I gene, DNASE 1 (DNL1), to band 16p13.3 using the polymerase chain reaction [16].
  • The function of the SLPI promoter encompassing these DNase-I hypersensitive sites has been studied by deletion analysis with the luciferase gene as a transient expression vector [19].
  • Characterization of DNASE I hypersensitive sites in the 120kb 5' to the CFTR gene [27].
  • CONCLUSIONS: Pulmonary function as measured by FEV1 and FVC improved significantly in the dornase alfa-treated patients [28].

Analytical, diagnostic and therapeutic context of DNASE1


  1. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Bartsch, O., Rasi, S., Delicado, A., Dyack, S., Neumann, L.M., Seemanová, E., Volleth, M., Haaf, T., Kalscheuer, V.M. Hum. Genet. (2006) [Pubmed]
  2. Frequency of a single nucleotide (A2317G) and 56-bp variable number of tandem repeat polymorphisms within the deoxyribonuclease I gene in five ethnic populations. Fujihara, J., Yasuda, T., Shiwaku, K., Takeshita, H. Clin. Chem. Lab. Med. (2006) [Pubmed]
  3. 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. Kominato, Y., Ueki, M., Iida, R., Kawai, Y., Nakajima, T., Makita, C., Itoi, M., Tajima, Y., Kishi, K., Yasuda, T. FEBS J. (2006) [Pubmed]
  4. High-dose pancreatic-enzyme supplements and fibrosing colonopathy in children with cystic fibrosis. FitzSimmons, S.C., Burkhart, G.A., Borowitz, D., Grand, R.J., Hammerstrom, T., Durie, P.R., Lloyd-Still, J.D., Lowenfels, A.B. N. Engl. J. Med. (1997) [Pubmed]
  5. Functional analysis of DNase-I hypersensitive sites at the mouse porphobilinogen deaminase gene locus. Different requirements for position-independent expression from its two promoters. Porcher, C., Picat, C., Daegelen, D., Beaumont, C., Grandchamp, B. J. Biol. Chem. (1995) [Pubmed]
  6. Mutation of DNASE1 in people with systemic lupus erythematosus. Yasutomo, K., Horiuchi, T., Kagami, S., Tsukamoto, H., Hashimura, C., Urushihara, M., Kuroda, Y. Nat. Genet. (2001) [Pubmed]
  7. Dornase-alfa for cystic fibrosis. Spencer, D., Weller, P. Lancet (1995) [Pubmed]
  8. Biochemical analysis of actin in crane-fly gonial cells: evidence for actin in spermatocytes and spermatids--but not sperm. Strauch, A.R., Luna, E.J., LaFountain, J.R. J. Cell Biol. (1980) [Pubmed]
  9. DNase-I-dependent dissociation of erythrocyte cytoskeletons. Sheetz, M.P. J. Cell Biol. (1979) [Pubmed]
  10. Distinct DNase-I hypersensitive sites are associated with TAL-1 transcription in erythroid and T-cell lines. Leroy-Viard, K., Vinit, M.A., Lecointe, N., Mathieu-Mahul, D., Roméo, P.H. Blood (1994) [Pubmed]
  11. Identification of an histone H3 acetylated/K4-methylated-bound intragenic enhancer regulatory for urokinase receptor expression. Wang, H., Yan, C., Asangani, I., Allgayer, H., Boyd, D.D. Oncogene (2007) [Pubmed]
  12. Hormone-induced actin polymerization in rat hepatoma cells and human leucocytes. Rao, K.M., Betschart, J.M., Virji, M.A. Biochem. J. (1985) [Pubmed]
  13. Homeostatic Effects of TLR9 Signaling in Experimental Colitis. Lee, J., Rachmilewitz, D., Raz, E. Ann. N. Y. Acad. Sci. (2006) [Pubmed]
  14. Systematic review of the biology and medical management of respiratory syncytial virus infection. Black, C.P. Respiratory care. (2003) [Pubmed]
  15. Genetic polymorphism of human urine deoxyribonuclease I. Kishi, K., Yasuda, T., Awazu, S., Mizuta, K. Hum. Genet. (1989) [Pubmed]
  16. Chromosomal assignment of the human deoxyribonuclease I gene, DNASE 1 (DNL1), to band 16p13.3 using the polymerase chain reaction. Yasuda, T., Nadano, D., Iida, R., Takeshita, H., Lane, S.A., Callen, D.F., Kishi, K. Cytogenet. Cell Genet. (1995) [Pubmed]
  17. Aerosolized dornase alfa (rhDNase) for therapy of cystic fibrosis. Hodson, M.E. Am. J. Respir. Crit. Care Med. (1995) [Pubmed]
  18. Illegitimate expression of apolipoprotein A-II in Caco-2 cells is due to chromatin organization. Le Beyec, J., Ribeiro, A., Schreider, C., Chambaz, J., Rousset, M., Pinçon-Raymond, M., Cardot, P. Exp. Cell Res. (1999) [Pubmed]
  19. Cis-acting region associated with lung cell-specific expression of the secretory leukoprotease inhibitor gene. Kikuchi, T., Abe, T., Satoh, K., Narumi, K., Sakai, T., Abe, S., Shindoh, S., Matsushima, K., Nukiwa, T. Am. J. Respir. Cell Mol. Biol. (1997) [Pubmed]
  20. The cortical actin cytoskeleton of unactivated zebrafish eggs: spatial organization and distribution of filamentous actin, nonfilamentous actin, and myosin-II. Becker, K.A., Hart, N.H. Mol. Reprod. Dev. (1996) [Pubmed]
  21. Persistence of the ten-nucleotide repeat in chromatin unfolded in urea, as revealed by digestion with deoxyribonuclease i. Yaneva, M., Dessev, G. Nucleic Acids Res. (1976) [Pubmed]
  22. Thyroid hormone receptor, v-ErbA, and chromatin. Wolffe, A.P., Collingwood, T.N., Li, Q., Yee, J., Urnov, F., Shi, Y.B. Vitam. Horm. (2000) [Pubmed]
  23. Purification and properties of Epstein-Barr virus DNase expressed in Escherichia coli. Stolzenberg, M.C., Ooka, T. J. Virol. (1990) [Pubmed]
  24. In situ nick translation of metaphase chromosomes with biotin-labeled d-UTP. Adolph, S., Hameister, H. Hum. Genet. (1985) [Pubmed]
  25. Probing chromatin structure with nuclease sensitivity assays. Gregory, R.I., Khosla, S., Feil, R. Methods Mol. Biol. (2001) [Pubmed]
  26. Analysis of epidermal growth factor receptor mRNA expression by polymerase chain reaction assay in 94 human breast adenocarcinoma tumors. Falette, N.S., Artagaveytia, N., Rostan, M.C., Garin, E., Bobin, J.Y., Saez, S. Breast Cancer Res. Treat. (1994) [Pubmed]
  27. Characterization of DNASE I hypersensitive sites in the 120kb 5' to the CFTR gene. Smith, A.N., Wardle, C.J., Harris, A. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  28. Effects of 12-week administration of dornase alfa in patients with advanced cystic fibrosis lung disease. Pulmozyme Study Group. McCoy, K., Hamilton, S., Johnson, C. Chest (1996) [Pubmed]
  29. Characterization of the human 5-HT2A receptor gene promoter. Zhu, Q.S., Chen, K., Shih, J.C. J. Neurosci. (1995) [Pubmed]
  30. Cloning and characterization of the 5'-flanking region of the human growth hormone-releasing hormone receptor gene. Iguchi, G., Okimura, Y., Takahashi, T., Mizuno, I., Fumoto, M., Takahashi, Y., Kaji, H., Abe, H., Chihara, K. J. Biol. Chem. (1999) [Pubmed]
  31. Estimating effectiveness in an observational study: a case study of dornase alfa in cystic fibrosis. The Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis. Johnson, C.A., Butler, S.M., Konstan, M.W., Breen, T.J., Morgan, W.J. J. Pediatr. (1999) [Pubmed]
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