title: Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese).
abstract: The term arthrogryposis refers to a symptom complex that is characterised by congenital limb contractures. Arthrogryposis has been reported in man, in farm animals and in pets. Several forms have been reported to have a genetic origin in man. In Brown Swiss and Holstein Friesian cattle, congenital contractures have been recorded and classified as spinal muscular atrophy (SMA). The survival motor neuron gene (SMN) has been suggested as a candidate gene for SMA. In the last 20 years, the National Association of Piedmont Cattle have recorded arthrogryposis cases. We cloned and sequenced SMN cDNA extracted from the spinal cord samples of two animals: one Piedmont calf showing a severe clinical form of arthrogryposis and one normal Piedmont calf. In the affected calf, more than 50% of the 5' end clones showed a ATG > TTG single nucleotide polymorphism (SNP) in exon 1 that should determine a Met > Leu aminoacid change (single point mutation M3L). This mutation is associated with a 9 bp increase length of 5' UTR and to a TTC-->TTT silent mutation in exon 1. No single point mutation or 5' end polymorphism was shown in healthy animals and in the remaining 50% of the clones from the affected calf. We hypothesise a possible pathogenic effect of the 5' end-exon 1 polymorphism.
authors.affiliation: Istituto di Zootecnica, Faculty of Veterinary Medicine, University of Milan, Italy. maria.longeri@unimi.it
authors.forename: Maria
authors.initials: M
authors.lastname: Longeri
authors.forename: Tania
authors.initials: T
authors.lastname: Perrone
authors.forename: Graziella
authors.initials: G
authors.lastname: Bongioni
authors.forename: Marco
authors.initials: M
authors.lastname: Bona
authors.forename: Marta
authors.initials: M
authors.lastname: Zanotti
authors.forename: Andrea
authors.initials: A
authors.lastname: Galli
mesh_terms: D000818:Animals; D001176:Arthrogryposis / Q000235:genetics / Q000662:veterinary*; D001483:Base Sequence; D002417:Cattle / Q000002:abnormalities*; D017362:Cyclic AMP Response Element-Binding Protein; D017931:DNA Primers / Q000235:genetics; D007558:Italy; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D017931:DNA Primers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins