Proximal spinal muscular atrophy (SMA) is an autosomal recessive disease in
humans and other mammals, characterized by degeneration of anterior horn c
ells of the spinal cord. In humans, the survival of motor neuron gene (SMN)
has been recognized as the SMA-determining gene and has been mapped to 5q1
3. In cattle, SMA is a recurrent, inherited disease that plays an important
economic role in breeding programs of Brown Swiss stock. Now we have ident
ified the full-length cDNA sequence of the bovine SMN gene. Molecular analy
sis and characterization of the sequence documents 85 % identity to its hum
an counterpart and three evolutionarily conserved domains in different spec
ies. Physical mapping data reveals that bovine SMN is localized to chromoso
me region 20q12 --> q13, supporting the conserved synteny of this chromosom
al region between humans and cattle.