Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy

摘要

The present invention relates to the discovery of human and mouse survival motor-neuron genes or SMN genes which are chromosome 5-SMA (Spinal Muscular Atrophy) determining genes. The present invention further relates to the nucleotide sequences encoding these SMN genes and corresponding amino acid sequences, a vector containing the genes encoding the SMN proteins or DNA sequences corresponding to these genes and transformant strains containing the SMN genes or a DNA sequence corresponding to the genes. The present invention also relates to means and methods for detecting motor neuron diseases having symptoms of muscular weakness with or without sensory changes such as amytrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), primary lateral sclerosis (PLS), arthrogryposis multiplex congenita (AMC) and the like.