title: Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders.
abstract: Spinal muscular atrophy (SMA) is a devastating neuromuscular disease characterised by progressive loss of spinal motor neurons. Mutations in the genes underlying spontaneous bovine and feline models of SMA have recently been described. The clinical and pathological features of these disorders are similar to human forms of SMA making both genes excellent candidates in patients with motor neuron loss of no known aetiology. Here we report that a screen for mutations in coding regions and splice sites of the LIX1 and FVT1 genes in a cohort of 96 non-5q SMA patients and 119 familial and sporadic Amyotrophic Lateral Sclerosis patients identified no obvious pathogenic changes. This study indicates that mutations in these genes do not contribute significantly to the cause of motor neuron diseases in the human population.
authors.affiliation: University of Oxford, MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, Henry Wellcome Centre for Gene Function, South Parks Road, Oxford OX1 3QX, UK.
authors.forename: N J
authors.initials: NJ
authors.lastname: Parkinson
authors.forename: D
authors.initials: D
authors.lastname: Baumer
authors.forename: A
authors.initials: A
authors.lastname: Rose-Morris
authors.forename: K
authors.initials: K
authors.lastname: Talbot
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D000818:Animals; D000071183:Autophagy-Related Proteins; D002415:Cats; D002417:Cattle; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D051379:Mice; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics*; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D000071183:Autophagy-Related Proteins; C530882:Lix1 protein, human; C499180:Lix1 protein, mouse; D011506:Proteins; D016601:RNA-Binding Proteins; D000429:Alcohol Oxidoreductases