Caucasian-specific allele in non-synonymous single nucleotide polymorphisms of the gene encoding deoxyribonuclease I-like 3, potentially relevant to autoimmunity, produces an inactive enzyme

Clinica Chimica Acta

Volumn 407, Issue 1-2, 2009, Pages 20-24

  Ueki, Misuzu ^a   Takeshita, Haruo ^b   Fujihara, Junko ^b   Iida, Reiko ^a   Yuasa, Isao ^c   Kato, Hideaki ^d   Panduro, Arturo ^e   Nakajima, Tamiko ^f   Kominato, Yoshihiko ^f   Yasuda, Toshihiro ^a  

^a UNIVERSITY OF FUKUI   (Japan)

^b SHIMANE UNIVERSITY   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

^d NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^e Old Civil Hospital of Guadalajara   (Mexico)

^f GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Deoxyribonuclease I like 3 (DNase Il3); Ethnic variation; Genotyping; SNP; Systemic lupus erythematosus

Indexed keywords

ARGININE; CYSTINE; DEOXYRIBONUCLEASE I; DEOXYRIBONUCLEASE I LIKE 3; UNCLASSIFIED DRUG;

AFRICA; ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; ASIAN; AUTOIMMUNITY; CAUCASIAN; CELL STRAIN COS7; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME INACTIVATION; ENZYME SYNTHESIS; ETHNIC DIFFERENCE; GENE IDENTIFICATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; NONHUMAN; NORMAL HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; AUTOIMMUNITY; CERCOPITHECUS AETHIOPS; COS CELLS; ENDODEOXYRIBONUCLEASES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 67651096078     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.06.022     Document Type: Article

References (24)

1. Rodriguez A.M., Rodin D., Nomura H., Morton C.C., Weremowicz S., and Schneider M.C. Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I. Genomics 42 (1997) 507-513
2. Shiokawa D., and Tanuma S. Characterization of human DNase I family endonuclease and activation of DNase gamma during apoptosis. Biochemistry 40 (2001) 143-152
3. Shiokawa D., Ohyama H., Yamada T., Takahashi K., and Tanuma S. Identification of an endonuclease responsible for apoptosis in rat thymocytes. Eur J Biochem 226 (1994) 23-30
4. Zeng Z., Parmelee D., Hyaw H., Coleman T.A., Su K., Zhang J., Gentz R., Ruben S., Rosen C., and Li Y. Cloning and characterization of a novel human DNase. Biochem Biophys Res Commun 231 (1997) 499-504
5. Baron W.F., Pan C.Q., Spence S.A., Tyan A.M., Lazarus R.A., and Baker K.P. Cloning and characterization of an actin-resistant DNase I-like endonuclease secreted by macrophages. Gene 215 (1998) 291-301
6. Liu Q.Y., Pandey S., Singh R.K., Lin W., Ribecco M., Borowy-Borowski H., Smith B., Leblanc J., Walker P.R., and Sikorska M. DNase Y: a rat DNase I-like gene coding for a constitutively expressed chromatin-bound endonuclease. Biochemistry 37 (1998) 10134-10143
7. Valle F.M., Balada E., Ordi-Ros J., and Vilardell-Tarres M. DNase I and a systemic lupus erythematosus. Autoimmun Rev 7 (2008) 359-363
8. Wilber A., O'connor T.P., Lu M.L., Karimi A., and Schneider M.C. Dnase1l3 deficiency in lupus-prone MRL and NZB/W F1 mice. Clin Exp Immunol 134 (2003) 46-52
9. Wilber A., Lu M., and Schneider M.C. Deoxyribonuclease I-like III is an inducible macrophage barrier to liposomal transfection. Mol Ther 6 (2002) 35-42
10. Yasuda T., Nadano D., Tenjo E., Takeshita H., Sawazaki K., Nakanaga M., and Kishi K. Genotyping of human deoxyribonuclease I polymorphism by the polymerase chain reaction. Electrophoresis 16 (1995) 1889-1893
11. Fujihara J., Shiwaku K., Yasuda T., Yuasa I., Nishimukai H., Iida R., and Takeshita H. Variation of interleukin 8-251A>T polymorphism in world-wide populations and intra-ethnic differences in Japanese populations. Clin Chim Acta 377 (2007) 79-82
12. Ho S.N., Hunt H.D., Horton R.M., Pullen J.K., and Pease L.R. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77 (1989) 51-59
13. Ueki M., Iida R., Fujihara J., Takeshita H., Yuasa I., Kominato Y., and Yasuda T. Development of genotyping methods for single nucleotide polymorphism in the human pancreatic ribonuclease gene (RNASE1) and their application to population study. Biochem Genet 46 (2008) 145-153
14. Fujihara J., Hieda Y., Xue Y., Nakagami N., Imamura S., Takayama K., Kataoka K., and Takeshita H. Actin-inhibition and folding of vertebrate deoxyribonuclease I are affected by mutation at residues 67 and 114. Comp Biochem Physiol Part B 143 (2006) 70-75
15. Yasuda T., Takeshita H., Iida R., Kogure S., and Kishi K. A new allele, DNASE1*6, of human deoxyribonuclease I polymorphism encodes an Arg to Cys substitution responsible for its instability. Biochem Biophys Res Commun 260 (1999) 280-283
16. Nadano D., Yasuda T., and Kishi K. Measurement of deoxyribonuclease I activity in human tissues and body fluids by a single radial enzyme diffusion method. Clin Chem 39 (1993) 448-452
17. Aceves D., Ruiz B., Nuño P., Roman S., Zepeda E., and Pandura A. Heterogeneity of apolipoprotein E polymorphism in different Mexican populations. Hum Biol 78 (2006) 65-75
18. Ueki M., Takeshita H., Fujihara J., Ueta G., Nakajima T., Kominato Y., Kishi K., Iida R., and Yasuda T. Susceptibility of mammalian deoxyribonucleases I (DNases I) to proteolysis by proteases and its relationships to tissue distribution: biochemical and molecular analysis of equine DNase I. Comp Biochem Biophys Part B 148 (2007) 93-103
19. Weston S.A., Lahm A., and Suck D. X-ray structure of the DNase I-d(GGTATACC)2 complex at 2.3 Å resolution. J Mol Biol 226 (1992) 1237-1256
20. Chen W.-J., Lee I.-S., Chen C.-Y., and Liao T.-H. Biological functions of the disulfides in bovine pancreatic deoxyribonuclease I. Protein Sci 13 (2004) 875-883
21. Napirei M., Karsunky H., Zevnik B., Stephan H., Mannherz H.G., and Möröy T. Feature of systemic lupus erythematosus in Dnase1-deficient mice. Nat Genet 25 (2000) 177-181
22. Yasutomo K., Horiuchi T., Kagami S., Tsukamoto H., Hashimura C., and Kuroda Y. Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet 28 (2001) 313-314
23. Napirei M., Ludwig S., Mezrhab J., Klöckl T., and Mannherz H.G. Murine serum nucleases-contrasting effects of plasmin and heparin on the activities of DNase 1 and DNase 1-like 3 (DNase 1l3). FEBS J 276 (2009) 1059-1073
24. Gaffney P.M., King R.A., and Behrens T.W. Genetics of systemic lupus erythematosus. In: King R.A., Rotter J.I., and Motulsky A.G. (Eds). The Genetic Basis of Common Diseases. 2nd ed. (2002), Oxford University Press, New York 604-611