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

• Published in: Clinica chimica acta Vol. 407; no. 1; pp. 20 - 24
• Main Authors: Ueki, Misuzu, Takeshita, Haruo, Fujihara, Junko, Iida, Reiko, Yuasa, Isao, Kato, Hideaki, Panduro, Arturo, Nakajima, Tamiko, Kominato, Yoshihiko, Yasuda, Toshihiro
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.09.2009
• Subjects: African Continental Ancestry Group - genetics; Alleles; Amino Acid Substitution; Animals; Asian Continental Ancestry Group - genetics; Autoimmunity - genetics; Cercopithecus aethiops; COS Cells; Deoxyribonuclease I-like 3 (DNase Il3); Endodeoxyribonucleases - genetics; Endodeoxyribonucleases - metabolism; Ethnic variation; European Continental Ancestry Group - genetics; Female; Genotype; Genotyping; Humans; Polymorphism, Single Nucleotide; SNP; Systemic lupus erythematosus; Systemic lupus erythematosus; Deoxyribonuclease I-like 3 (DNase Il3); Genotyping; SNP; DNase Il3; SRED; ARMS; SLE; RFLP; Ethnic variation

Deoxyribonuclease I-like 3 (DNase Il3), a member of human DNase I family, is postulated to be involved in the genesis of autoimmune diseases. In the DNase Il3 gene, 2 non-synonymous SNPs, R178H and R206C, have been identified, however relevant population data are not available. Genotyping of the SNP...