Unknown

Dataset Information

0

A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.


ABSTRACT: The spinal muscular atrophy (SMA) protein, survival motor neuron (SMN), functions in the biogenesis of small nuclear ribonucleoproteins (snRNPs). SMN has also been implicated in tissue-specific functions; however, it remains unclear which of these is important for the etiology of SMA. Smn null mutants display larval lethality and show significant locomotion defects as well as reductions in minor-class spliceosomal snRNAs. Despite these reductions, we found no appreciable defects in the splicing of mRNAs containing minor-class introns. Transgenic expression of low levels of either wild-type or an SMA patient-derived form of SMN rescued the larval lethality and locomotor defects; however, snRNA levels were not restored. Thus, the snRNP biogenesis function of SMN is not a major contributor to the phenotype of Smn null mutants. These findings have major implications for SMA etiology because they show that SMN's role in snRNP biogenesis can be uncoupled from the organismal viability and locomotor defects.

SUBMITTER: Praveen K 

PROVIDER: S-EPMC3405901 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature

altmetric image

Publications

A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.

Praveen Kavita K   Wen Ying Y   Matera A Gregory AG  

Cell reports 20120621 6


The spinal muscular atrophy (SMA) protein, survival motor neuron (SMN), functions in the biogenesis of small nuclear ribonucleoproteins (snRNPs). SMN has also been implicated in tissue-specific functions; however, it remains unclear which of these is important for the etiology of SMA. Smn null mutants display larval lethality and show significant locomotion defects as well as reductions in minor-class spliceosomal snRNAs. Despite these reductions, we found no appreciable defects in the splicing  ...[more]

Similar Datasets

| S-EPMC5179954 | biostudies-literature
| S-EPMC4931114 | biostudies-literature
| S-EPMC4944827 | biostudies-literature
| S-EPMC4090017 | biostudies-literature
| S-EPMC4514700 | biostudies-other
2017-04-10 | GSE86908 | GEO
| S-EPMC3696827 | biostudies-other
2016-05-05 | GSE81121 | GEO
| S-EPMC3845193 | biostudies-literature
| S-EPMC1240041 | biostudies-literature