title: Identification of 45 novel SNPs in the 83-kb region containing peptidylarginine deiminase types 1 and 3 loci on chromosomal band 1p36.13.
abstract: Peptidylarginine deiminases (PADIs) are post-translational modification enzymes that catalyze the conversion of protein-bound arginine residues into citrulline residues in the presence of calcium ions. Among PADIs, PADI4 was identified as a rheumatoid arthritis-susceptibility gene (Suzuki et al. in Nat Genet 34:395, 2003). We identified a total of 87 single nucleotide polymorphisms (SNPs) in PADI1 and PADI3 gene loci. Following a comparison of our data with SNPs in the dbSNP database in the National Center for Biotechnology Information, 45 SNPs are considered to be novel: 33 were identified in the PADI1 gene locus and 12 in the PADI3 gene locus. We also identified two insertion-deletion polymorphisms in introns of the PADI1. The high-resolution map that we constructed in this study will serve as a useful resource for analyzing gene scans of complex diseases mapped to this local segment on chromosomal band 1p36.13.
authors.affiliation: Laboratory for Pharmacogenetics, Research Group of Personalized Medicine, RIKEN SNP Research Center, c/o RIKEN Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi, Yokohama, Kanagawa 230-0045, Japan. iidaari@src.riken.go.jp.
authors.forename: Aritoshi
authors.initials: A
authors.lastname: Iida
authors.affiliation: Laboratory for Pharmacogenetics, Research Group of Personalized Medicine, RIKEN SNP Research Center, c/o RIKEN Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi, Yokohama, Kanagawa 230-0045, Japan.|Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D002871:Chromosome Banding; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D019992:Databases as Topic; D005091:Exons; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D007438:Introns; D007564:Japan; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D000076342:Protein-Arginine Deiminases; D017422:Sequence Analysis, DNA
chemical_list: D006867:Hydrolases; D000076342:Protein-Arginine Deiminases