title: A comprehensive survey for polymorphisms in the bovine IFN-gamma gene reveals a highly polymorphic intronic DNA sequence allowing improved genotyping of Bovinae.
abstract: This study aimed to identify interferon-gamma (IFN-gamma) gene variants in cattle for diagnostic purposes. Therefore, the entire bovine IFN-gamma gene (BoIFNG) and 2605 bp of its promoter DNA were sequenced. The BoIFNG DNA sequence conforms to the published part of Bo-IFN-gamma cDNA. Primer extension experiments show the presence of a 5' extension of exon 1 by 42 nucleotides (nt). One SINE element (Bov-A2) is located in the 5'-region, and two SINE elements (Bov-tA, Bov-B) are contained in the 3'-region of BoIFNG. The variants were detected by comparative sequence analysis of PCR amplicons from different bovine species. Four polymorphic mononucleotide repeats are situated in the promoter and in intron 1. Four distinct series of single nucleotide polymorphisms (SNP) were found in functionally important regions of BoIFNG. The region between the two intron 1 microsatellites contains the highest density of SNPs in Bos taurus breeds. One G-T transversion in the coding region of exon 1 causes a Gly(14) to Val(14) exchange in the BoIFNG signal peptide of different bovine species. A G-A transition in exon 2 encodes a Ser(19) to Asn(19) change in the mature protein of the Tibetan yak. Genotyping of randomly sampled Holstein Friesian cows at selected SNPs and of both intron 1 microsatellites revealed two dominant BoIFNG microhaplotypes. The detected SNPs improve the recently reported genotyping system of cattle.
authors.affiliation: Research Unit of Molecular Biology of the Research Institute for the Biology of Farm Animals, 18196 Dummerstorf, Germany. pschmidt@fbn-dummerstorf.de
authors.forename: Peter
authors.initials: P
authors.lastname: Schmidt
authors.forename: Christa
authors.initials: C
authors.lastname: Kühn
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Maillard
authors.forename: Christian
authors.initials: C
authors.lastname: Pitra
authors.forename: Ute
authors.initials: U
authors.lastname: Tiemann
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Weikard
authors.forename: Manfred
authors.initials: M
authors.lastname: Schwerin
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D002417:Cattle / Q000145:classification / Q000235:genetics*; D019143:Evolution, Molecular; D005091:Exons / Q000235:genetics; D005260:Female; D015723:Gene Library; D005796:Genes; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D007371:Interferon-gamma / Q000235:genetics*; D007438:Introns / Q000235:genetics*; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D020086:Short Interspersed Nucleotide Elements / Q000235:genetics; D013045:Species Specificity
chemical_list: D007371:Interferon-gamma