Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.
Several SNPs in the deoxyribonuclease I-like 1 (DNase 1L1) and DNase 1L2 were investigated. In the present study, the genotype distributions of three synonymous SNPs (V59V, rs1050095; P67P, rs1130929; A277A, rs17849495) in the DNase 1L1 gene and four non-synonymous SNPs, V122I (rs34952165), Q170H (rs6643670), and D227A (rs5987256) in the DNase 1L1 gene, as well as D197A (rs62621282) in the DNase 1L2 gene were investigated in 13 populations. In all the populations, no variation was found in four SNPs (V59V, Q170H, D227A, and A277A) in DNASE1L1 or in D197A in DNASE1L2. As for V122I, only the German population showed a low degree of polymorphism. The SNP V122I in DNASE1L1 was monoallelic for the G-allele in all of the Asian and African populations examined, with no polymorphism being evident. Since the A-allele in SNP V122I was distributed in only the Caucasian populations, not in the other ethnic groups, it was confirmed that the A-allele in SNP V122I was Caucasian-specific. On the other hand, only P67P in DNASE1L1 was polymorphic among three synonymous SNPs. The effect of nucleotide substitution corresponding to polymorphic SNP P67P on DNase 1L1 activity was examined: the corresponding nucleotide substitution in polymorphic SNP P67P has little effect on the DNase activity.
Fujihara
Junko
J
Department of Legal Medicine, Shimane University School of Medicine, Shimane, Japan.
Yasuda
Toshihiro
T
Iida
Reiko
R
Kimura-Kataoka
Kaori
K
Soejima
Mikiko
M
Koda
Yoshiro
Y
Kato
Hideaki
H
Panduro
Arturo
A
Yuasa
Isao
I
Takeshita
Haruo
H
D004247:DNA / Q000097:blood / Q000737:chemistry / Q000302:isolation & purification; D003850:Deoxyribonuclease I / Q000235:genetics*; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics
D009124:Muscle Proteins; D004247:DNA; C097585:DNASE1L1 protein, human; C107519:DNASE1L2 protein, human; D003850:Deoxyribonuclease I