title: Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4).
abstract: BACKGROUND
  Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of syndactyly in the Holstein and Angus cattle breeds.
  
  
  RESULTS
  We confirmed the previously described LRP4 exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new LRP4 non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families.
  
  
  CONCLUSIONS
  We confirmed a significant role of LRP4 mutations in the pathogenesis of congenital syndactyly in cattle. The newly detected missense mutations in the LRP4 gene represent independent mutations affecting different conserved protein domains. However, the four newly described LRP4 mutations do still not explain all analyzed cases of syndactyly.
authors.affiliation: Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstrasse 109a, 3001 Berne, Switzerland. cord.droegemueller@itz.unibe.ch
authors.forename: Cord
authors.initials: C
authors.lastname: Drögemüller
authors.forename: Tosso
authors.initials: T
authors.lastname: Leeb
authors.forename: Barbara
authors.initials: B
authors.lastname: Harlizius
authors.forename: Imke
authors.initials: I
authors.lastname: Tammen
authors.forename: Ottmar
authors.initials: O
authors.lastname: Distl
authors.forename: Martin
authors.initials: M
authors.lastname: Höltershinken
authors.forename: Arcangelo
authors.initials: A
authors.lastname: Gentile
authors.forename: Amandine
authors.initials: A
authors.lastname: Duchesne
authors.forename: André
authors.initials: A
authors.lastname: Eggen
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001947:Breeding; D002417:Cattle / Q000145:classification / Q000235:genetics*; D002418:Cattle Diseases / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003433:Crosses, Genetic; D004252:DNA Mutational Analysis; D005260:Female; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017434:Protein Structure, Tertiary; D011973:Receptors, LDL / Q000235:genetics* / Q000502:physiology; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D013576:Syndactyly / Q000235:genetics / Q000662:veterinary*
chemical_list: D003062:Codon; D011973:Receptors, LDL