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DNASE1L1  -  deoxyribonuclease I-like 1

Homo sapiens

Synonyms: DNAS1L1, DNASEX, DNL1L, DNase I-like 1, DNase X, ...
 
 
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Disease relevance of DNASE1L1

  • Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease) [1].
  • The therapeutic significance of recombinant human DNase I in treating the patients with cystic fibrosis has risen our interests in identifying other human DNase I-like enzymes to study their biological significance [2].
  • Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology [3].
  • Out of 628 children examined, four (0.6%) were found to have xerophthalmia; three (0.48%) classified as XIB and one (0.16%) as X2 [4].
  • Night blindness (XN) and milder conjunctival form (XIA, XIB) of the disease were predominantly prevalent in the studied population [5].
 

High impact information on DNASE1L1

  • By comparing the ionic requirements for the complete pattern of chromatin degradation in nuclei with those required for apoptosis, it is apparent that the whole process may be catalysed by two pools of Mg-activated\Ca-modulated DNase I-like enzyme activities [6].
  • High activities for DNase I, DNase X, and DNase gamma are observed under neutral conditions, whereas DNAS1L2 shows its maximum activity at acidic pH [7].
  • Abundant expression of DNase X mRNA was detected in heart and skeletal muscle cells, suggesting that DNase X may be involved in apoptotic or other biological events in muscle tissues [8].
  • Functional characterization of DNase X, a novel endonuclease expressed in muscle cells [8].
  • Similarly to DNase I, the nuclease activity of DNase X was dependent on Ca(2+) and Mg(2+) and inhibited by Zn(2+) ions or chelators of bivalent cations [8].
 

Biological context of DNASE1L1

  • Human DNase X, ectopically expressed in HeLa S3 cells, is located in the ER (endoplasmic reticulum) and is modified by an N-linked glycosylation at Asn-243 [9].
  • Gene expression analyses show that the high expression level in muscular tissues, a known feature of human DNASE X, is also observed in mouse DNase X [9].
  • Overexpression of DNase X caused internucleosomal DNA degradation and induction of cell death associated with increased caspase activation [8].
  • Two internal amino acid sequences generated from lys-C digested FAA were 85% and 92% identical to the same DNase I-like protein [10].
 

Anatomical context of DNASE1L1

  • The previously defined DNL1L or DNAS1L1 is expressed highest in heart and skeletal muscle, while DNase I is expressed in the pancreas, parotid gland, and kidney [11].
  • Cloning and characterization of an actin-resistant DNase I-like endonuclease secreted by macrophages [12].
  • XIB expressed a single transcript in adult heart and skeletal muscle, whereas, in some fetal tissues, two different-sized transcripts were seen [13].
  • In normal sheep left ventricles, a low level of the DNase I-like activity was detected (1.16 +/- 0.17 pg/100 microg protein, n = 20), whereas it was elevated (3.64 +/- 0.49 pg/100 microg, n = 32, p < 0.001) in the ischemic failing LV samples [14].
  • We found that both astrocytes and neurons express DNase I-like endonuclease-a major isoform of Ca(2+)-Mg(2+)-endonucleases [15].
 

Associations of DNASE1L1 with chemical compounds

  • A sequence comparison reveals some conserved characteristics: all the mammalian DNase X proteins have an N-terminal signal peptide, a potential N-linked glycosylation site and a C-terminal hydrophobic domain [9].
  • Nuclei of the eCG and hCG but not the DES group contained a 32/34-kDA DNase I-like endonuclease activity that was Ca2+/Mg(2+)-dependent, stimulated by Mn2+, optimal at pH 7, and identified by anti-DNase I antibody [16].
  • Vitamin A status was assessed by conjunctival impression cytology with transfer ([CT), clinical ophthalmic signs, and nutritional survey in all children ages three through ten living on Mili atoll, Republic of the Marshall Islands. Forty-seven percent had xerophthannia (5% with XN, 39% with XN + XIA, and 3% with XN + XIB) [17].
 

Physical interactions of DNASE1L1

 

Other interactions of DNASE1L1

  • A comparison of DNAS1L1, DNAS1L2, and DNAS1L3 with the well-characterized DNase I suggests that the DNAS1L proteins are unlikely to be glycosylated or bind actin; however, catalytic and calcium- and DNA-binding residues are conserved, and potentially cleavable signal peptides are present among all these proteins [11].

References

  1. Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease). Lichtenbelt, K.D., Sinke, R.J., Ausems, M.G., Kroos, M.A., Reuser, A.J., Wokke, J.J. Exp. Mol. Pathol. (2006) [Pubmed]
  2. Cloning and characterization of a novel human DNase. Zeng, Z., Parmelee, D., Hyaw, H., Coleman, T.A., Su, K., Zhang, J., Gentz, R., Ruben, S., Rosen, C., Li, Y. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  3. Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology. Gilchrist, K.W., Gilbert, E.F., Goldfarb, S., Goll, U., Spranger, J.W., Opitz, J.M. Eur. J. Pediatr. (1976) [Pubmed]
  4. Dietary practices and xerophthalmia in under-fives in Jimma town, southwest Ethiopia. Getaneh, T., Assefa, A., Tadesse, Z. East African medical journal. (2000) [Pubmed]
  5. Xerophthalmia in school children. Desai, N.C., Lohiya, S., Keshan, S., Nag, V. Journal of the Indian Medical Association. (1989) [Pubmed]
  6. Degradation of chromatin in apoptotic cells. Walker, P.R., Pandey, S., Sikorska, M. Cell Death Differ. (1995) [Pubmed]
  7. Characterization of human DNase I family endonucleases and activation of DNase gamma during apoptosis. Shiokawa, D., Tanuma, S. Biochemistry (2001) [Pubmed]
  8. Functional characterization of DNase X, a novel endonuclease expressed in muscle cells. Los, M., Neubüser, D., Coy, J.F., Mozoluk, M., Poustka, A., Schulze-Osthoff, K. Biochemistry (2000) [Pubmed]
  9. Physical and biochemical properties of mammalian DNase X proteins: non-AUG translation initiation of porcine and bovine mRNAs for DNase X. Shiokawa, D., Shika, Y., Saito, K., Yamazaki, K., Tanuma, S. Biochem. J. (2005) [Pubmed]
  10. Purification and characterization of fertility-associated antigen (FAA) in bovine seminal fluid. McCauley, T.C., Zhang, H., Bellin, M.E., Ax, R.L. Mol. Reprod. Dev. (1999) [Pubmed]
  11. Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I. Rodriguez, A.M., Rodin, D., Nomura, H., Morton, C.C., Weremowicz, S., Schneider, M.C. Genomics (1997) [Pubmed]
  12. Cloning and characterization of an actin-resistant DNase I-like endonuclease secreted by macrophages. Baron, W.F., Pan, C.Q., Spencer, S.A., Ryan, A.M., Lazarus, R.A., Baker, K.P. Gene (1998) [Pubmed]
  13. Cloning of a gene encoding a DNase I-like endonuclease in the human Xq28 region. Pergolizzi, R., Appierto, V., Bosetti, A., DeBellis, G.L., Rovida, E., Biunno, I. Gene (1996) [Pubmed]
  14. Elevated DNase activity and caspase expression in association with apoptosis in failing ischemic sheep left ventricles. Jiang, L., Huang, Y., Yuasa, T., Hunyor, S., dos Remedios, C.G. Electrophoresis (1999) [Pubmed]
  15. Post-treatment with the Ca(2+)-Mg(2+)-endonuclease inhibitor aurintricarboxylic acid prevents peroxynitrite-induced DNA damage and death of murine astrocytes. Zhu, K., Lu, H., Ying, W. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  16. Identification and localization of deoxyribonuclease I in the rat ovary. Boone, D.L., Tsang, B.K. Biol. Reprod. (1997) [Pubmed]
  17. The prevalence of vitamin A deficiency in 1994 on an atoll of the Marshall Islands and its relationship to locally grown food. Dickson, J., Hunt, D.D. Pacific health dialog : a publication of the Pacific Basin Officers Training Program and the Fiji School of Medicine. (2001) [Pubmed]
 
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