title: Transcription factor binding site polymorphism in the motilin gene associated with left-sided displacement of the abomasum in German Holstein cattle.
abstract: Left-sided displacement of the abomasum (LDA) is a common disease in many dairy cattle breeds. A genome-wide screen for QTL for LDA in German Holstein (GH) cows indicated motilin (MLN) as a candidate gene on bovine chromosome 23. Genomic DNA sequence analysis of MLN revealed a total of 32 polymorphisms. All informative polymorphisms used for association analyses in a random sample of 1,136 GH cows confirmed MLN as a candidate for LDA. A single nucleotide polymorphism (FN298674:g.90T>C) located within the first non-coding exon of bovine MLN affects a NKX2-5 transcription factor binding site and showed significant associations (OR(allele) = 0.64; -log(10)P(allele) = 6.8, -log(10)P(genotype) = 7.0) with LDA. An expression study gave evidence of a significantly decreased MLN expression in cows carrying the mutant allele (C). In individuals heterozygous or homozygous for the mutation, MLN expression was decreased by 89% relative to the wildtype. FN298674:g.90T>C may therefore play a role in bovine LDA via the motility of the abomasum. This MLN SNP appears useful to reduce the incidence of LDA in German Holstein cattle and provides a first step towards a deeper understanding of the genetics of LDA.
authors.affiliation: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Mömke
authors.forename: Marlene
authors.initials: M
authors.lastname: Sickinger
authors.forename: Jürgen
authors.initials: J
authors.lastname: Rehage
authors.forename: Klaus
authors.initials: K
authors.lastname: Doll
authors.forename: Ottmar
authors.initials: O
authors.lastname: Distl
mesh_terms: D000018:Abomasum / Q000002:abnormalities*; D000818:Animals; D001483:Base Sequence; D001665:Binding Sites; D016022:Case-Control Studies; D002417:Cattle / Q000235:genetics*; D002418:Cattle Diseases / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D056726:Genetic Association Studies; D006239:Haplotypes; D016018:Least-Squares Analysis; D009037:Motilin / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D040641:Quantitative Trait Loci; D017422:Sequence Analysis, DNA; D013272:Stomach Diseases / Q000235:genetics / Q000662:veterinary*; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D014157:Transcription Factors; D009037:Motilin