title: A genetic predisposition for bovine neonatal pancytopenia is not due to mutations in coagulation factor XI.
abstract: Bovine neonatal pancytopenia (BNP) is a newly emerging disease in many European countries that causes haemorrhagic diathesis and mortality in neonatal calves. This study tested the hypothesis that genetic factors might be involved in BNP, since genetic defects resulting in coagulation disorders have been described in many species, including cattle. A familial pattern of occurrence of BNP cases was observed in an experimental population of cattle in Germany and BNP was diagnosed in nine calves on an experimental dairy herd from May 2007 to December 2009. All affected calves were descendents of a single F(1) sire in a specific F(2) resource population generated from Charolais and German Holstein bloodlines. Sequence analysis of the bovine coagulation factor XI (F11) gene as a functional candidate gene for BNP revealed an unusually high number of non-synonymous mutations within the gene compared to a whole genome mutation screen in cattle targetting random sequences. However, none of the mutations in the F11 gene were concordant with BNP status. Although these data and further pedigree analysis excluded a simple mode of inheritance of the BNP phenotype, there was a statistically significant (P=0.0001) accumulation of BNP cases in the specific pedigree examined, suggesting that a genetic component is involved in the development of BNP.
authors.affiliation: Research Unit Molecular Biology, Leibniz Institute for Farm Animal Biology (FBN), Wilhelm-Stahl-Allee 2, 18196 Dummerstorf, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Krappmann
authors.affiliation: Research Unit Molecular Biology, Leibniz Institute for Farm Animal Biology (FBN), Wilhelm-Stahl-Allee 2, 18196 Dummerstorf, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Weikard
authors.affiliation: State Office for Agriculture, Food Safety and Fishery Mecklenburg-Western Pommerania (LALLF M-V), Thierfelderstraße 18, 18059 Rostock, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Gerst
authors.affiliation: State Office for Agriculture, Food Safety and Fishery Mecklenburg-Western Pommerania (LALLF M-V), Thierfelderstraße 18, 18059 Rostock, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Wolf
authors.affiliation: Research Unit Molecular Biology, Leibniz Institute for Farm Animal Biology (FBN), Wilhelm-Stahl-Allee 2, 18196 Dummerstorf, Germany. Electronic address: kuehn@fbn-dummerstorf.de.
authors.forename: Ch
authors.initials: C
authors.lastname: Kühn
mesh_terms: D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics* / Q000473:pathology; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics / Q000662:veterinary; D020022:Genetic Predisposition to Disease; D009154:Mutation; D010198:Pancytopenia / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000662:veterinary; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000662:veterinary
chemical_list: D005172:Factor XI