title: Screening and scanning of single nucleotide polymorphisms in the pig melanocortin 1 receptor gene (MC1R) by pyrosequencing.
abstract: The increasing interest in the discovery and characterization of single nucleotide polymorphisms (SNPs) emphasis the need for high-throughput and cost effective scoring methods. Pyrosequencing is a novel method for screening SNPs. In this study we examine breed specific SNPs in the pig melanocortin 1 receptor gene (MC1R), some causing coat color phenotypes. A total of fifteen pigs representing eight breeds and crosses were analyzed by pyrosequencing. In addition to nine previously known SNPs, we also detected one new missense mutation by pyrosequencing. We here show that the SNPs were readily scored using standard reaction conditions. Insertions as well as substitutions were unambiguously detected and all genotypes were resolved in terms of homo- and heterozygozity.
authors.affiliation: Department of Biotechnology, The Royal Institute of Technology (KTH), Stockholm, Sweden.
authors.forename: A C
authors.initials: AC
authors.lastname: Gustafsson
authors.forename: J M
authors.initials: JM
authors.lastname: Kijas
authors.forename: A
authors.initials: A
authors.lastname: Alderborn
authors.forename: M
authors.initials: M
authors.lastname: Uhlén
authors.forename: L
authors.initials: L
authors.lastname: Andersson
authors.forename: J
authors.initials: J
authors.lastname: Lundeberg
mesh_terms: D000818:Animals; D011756:Diphosphates / Q000737:chemistry; D005838:Genotype; D020125:Mutation, Missense; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018043:Receptors, Corticotropin / Q000235:genetics*; D044101:Receptors, Melanocortin; D017422:Sequence Analysis, DNA / Q000379:methods*; D013552:Swine / Q000235:genetics*
chemical_list: D011756:Diphosphates; D018043:Receptors, Corticotropin; D044101:Receptors, Melanocortin