IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)
doi: 10.1093/hmg/ddp028
pmid: 19158098
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)
Distal spinal muscular atrophy type 1 (DSMA1) is an autosomal recessive disease that is clinically characterized by distal limb weakness and respiratory distress. In this disease, the degeneration of alpha-motoneurons is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2). This protein has been implicated in DNA replication, pre-mRNA splicing and transcription, but its precise function in all these processes has remained elusive. We have purified catalytically active recombinant IGHMBP2, which has enabled us to assess its enzymatic properties and to identify its cellular targets. Our data reveal that IGHMBP2 is an ATP-dependent 5' --> 3' helicase, which unwinds RNA and DNA duplices in vitro. Importantly, this helicase localizes predominantly to the cytoplasm of neuronal and non-neuronal cells and associates with ribosomes. DSMA1-causing amino acid substitutions in IGHMBP2 do not affect ribosome binding yet severely impair ATPase and helicase activity. We propose that IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in DSMA1 patients.
- Charité - University Medicine Berlin Germany
- Freie Universität Berlin Germany
- University of Würzburg Germany
- Heidelberg University Germany
Adenosine Triphosphatases, Cell Extracts, DNA Helicases, DNA-Binding Proteins, Enzyme Activation, Muscular Atrophy, Spinal, Mice, Adenosine Triphosphate, Ribonucleoproteins, Cell Line, Tumor, Animals, Humans, Mutant Proteins, Ribosomes, Protein Binding, Transcription Factors
Adenosine Triphosphatases, Cell Extracts, DNA Helicases, DNA-Binding Proteins, Enzyme Activation, Muscular Atrophy, Spinal, Mice, Adenosine Triphosphate, Ribonucleoproteins, Cell Line, Tumor, Animals, Humans, Mutant Proteins, Ribosomes, Protein Binding, Transcription Factors
19 Research products, page 1 of 2
- 2014IsAmongTopNSimilarDocuments
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2008IsAmongTopNSimilarDocuments
- 2017IsRelatedTo
- 2014IsAmongTopNSimilarDocuments
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
chevron_left - 1
- 2
chevron_right
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).100 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
