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  Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

Rossoll, W., Kröning, A. K., Ohndorf, U. M., Steegborn, C., Jablonka, S., & Sendtner, M. (2002). Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? Human Molecular Genetics, 11(1), 93-105.

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Genre: Journal Article
Alternative Title : Hum. Mol. Genet.

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 Creators:
Rossoll, W., Author
Kröning, A. K., Author
Ohndorf, U. M., Author
Steegborn, C.1, Author              
Jablonka, S., Author
Sendtner, M., Author
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1External Organizations, ou_persistent22              

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 Abstract: Spinal muscular atrophy (SMA), the most common hereditary motor neuron disease in children and young adults is caused by mutations in the telomeric survival motor neuron (SMN1) gene. The human genome, in contrast to mouse, contains a second SMN gene (SMN2) which codes for a gene product which is alternatively spliced at the C-terminus, but also gives rise to low levels of full-length SMN protein. The reason why reduced levels of the ubiquitously expressed SMN protein lead to specific motor neuron degeneration without affecting other cell types is still not understood. Using yeast two-hybrid techniques, we identified hnRNP-R and the highly related gry- rbp/hnRNP-Q as novel SMN interaction partners. These proteins have previously been identified in the context of RNA processing, in particular mRNA editing, transport and splicing. hnRNP-R and gry-rbp/hnRNP-Q interact with wild-type Smn but not with truncated or mutant Smn forms identified in SMA. Both proteins are widely expressed and developmentally regulated with expression peaking at E19 in mouse spinal cord. hnRNP-R binds RNA through its RNA recognition motif domains. Interestingly, hnRNP-R is predominantly located in axons of motor neurons and co-localizes with Smn in this cellular compartment. Thus, this finding could provide a key to understand a motor neuron-specific Smn function in SMA.

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Language(s): eng - English
 Dates: 2002-01-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 34934
ISI: 000173544300010
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Title: Human Molecular Genetics
  Alternative Title : Hum. Mol. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 11 (1) Sequence Number: - Start / End Page: 93 - 105 Identifier: ISSN: 0964-6906