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Gene Review:

SMN2 - survival of motor neuron 2, centromeric

Bos taurus

Synonyms: SMN, SMN1

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Disease relevance of SMN1

The interaction between TGS1 and SMN is disrupted by a mutation in SMN that mimics the predominant isoform of the protein that is expressed in patients with the neurodegenerative disease, spinal muscular atrophy [1].
We cloned and sequenced SMN cDNA extracted from the spinal cord samples of two animals: one Piedmont calf showing a severe clinical form of arthrogryposis and one normal Piedmont calf [2].

High impact information on SMN1

SMA-determining candidate genes, SMN1 and SMN2, have been identified on human chromosome 5q [3].
An AluI PCR-RFLP in the bovine survival motor neuron gene (SMN) [4].
The bovine survival of motor neuron gene (SMN) maps to bovine chromosome 20q14 [5].
Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese) [2].

Anatomical context of SMN1

Description and physical localization of the bovine survival of motor neuron gene (SMN) [6].

References

Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron. Mouaikel, J., Narayanan, U., Verheggen, C., Matera, A.G., Bertrand, E., Tazi, J., Bordonné, R. EMBO Rep. (2003) [Pubmed]
Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese). Longeri, M., Perrone, T., Bongioni, G., Bona, M., Zanotti, M., Galli, A. Genet. Sel. Evol. (2003) [Pubmed]
A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems. Giesemann, T., Rathke-Hartlieb, S., Rothkegel, M., Bartsch, J.W., Buchmeier, S., Jockusch, B.M., Jockusch, H. J. Biol. Chem. (1999) [Pubmed]
An AluI PCR-RFLP in the bovine survival motor neuron gene (SMN). Pietrowski, D., Kemter, J., Medugorac, I., Goldammer, T., Foerster, M. Anim. Genet. (1999) [Pubmed]
The bovine survival of motor neuron gene (SMN) maps to bovine chromosome 20q14. Eggen, A., Masabanda, J., Pfister-Genskow, M., Fries, R., Bishop, M.D. Anim. Genet. (1998) [Pubmed]
Description and physical localization of the bovine survival of motor neuron gene (SMN). Pietrowski, D., Goldammer, T., Meinert, S., Schwerin, M., Förster, M. Cytogenet. Cell Genet. (1998) [Pubmed]

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SMN	Canis lupus familiaris
smn1	Danio rerio
SMN	Gallus gallus
SMN2	Homo sapiens
SMN1	Homo sapiens
SMN1	Macaca mulatta
Smn1	Mus musculus
LOC461829	Pan troglodytes
Smn1	Rattus norvegicus
smn2	Xenopus (Silurana) tropicalis

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