Article
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
Human molecular genetics - 1 Jul 1999
Monani U R, Lorson C L, Parsons D W, Prior T W, Androphy E J, Burghes A H, McPherson J D
Abstract excerpt
Spinal muscular atrophy (SMA) is a recessive disorder characterized by loss of motor neurons in the spinal cord. It is caused by mutations in the telomeric survival motor neuron 1 ( SMN1 ) gene. Alterations within an almost identical copy gene, the centromeric survival motor neuron 2 ( SMN2 ) gene produce no known phenotypic effect. The exons of the two genes differ by just two nucleotides, neither of which...
Topics
- Alternative Splicing
- Cyclic AMP Response Element-Binding Protein
- Genotype
- Humans
- Molecular Sequence Data
- Muscular Atrophy, Spinal
- Nerve Tissue Proteins
- Point Mutation
- RNA-Binding Proteins
- SMN Complex Proteins
- Sequence Analysis, DNA
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein