Human Molecular Genetics, Vol 6, 1961-1971, Copyright © 1997 by Oxford University Press
G Battaglia, A Princivalle, F Forti, C Lizier and M Zeviani
The survival motor neuron (SMN) gene is the putative disease gene for human
spinal muscular atrophy (SMA), an autosomal recessive disorder
characterized by progressive degeneration of lower motor neurons. Two
copies of the gene, centromeric and telomeric, are present in the same 5q13
chromosomal region in humans. However, only the telomeric gene is affected
in SMA. The SMN gene(s) encode(s) a novel protein of unknown function. To
gain insights into the role of SMN in neurons, we have identified the SMN
gene ortholog in the rat, and investigated SMN expression in the CNS of
rat, monkey and humans by immunocytochemistry and in situ hybridization
experiments. Antibodies against the SMN amino- terminus specifically
recognized a single protein identical to the in vitro translation products
of human and rat SMN cDNAs. The SMN gene transcript and product were widely
but unevenly expressed throughout cerebral and spinal cord areas. The SMN
protein was localized mainly in the cytoplasm of specific neuronal systems,
and it was particularly expressed in lower motor neurons of newborn and
adult animals. Likewise, a strong hybridization signal was detected in
lamina IX of the spinal ventral horn. These results support the relevance
of SMN for the motor neuron function and the pathogenetic role of the SMN
gene in the neuronal degeneration associated with SMA.
ARTICLES
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
Department of Neurophysiology, Istituto Neurologico C. Besta, Milano, Italy.
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