PomBase home

Reference - PMID:20400941 - Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron gene.

Reference summary

PubMed ID
PMID:20400941
Title
Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron gene.
Authors
Campion Y, Neel H, Gostan T, Soret J, Bordonné R
Citation
EMBO J 2010 Jun 02;29(11):1817-29
Publication year
2010
Abstract
Spinal muscular atrophy results from deletions or mutations in the survival of motor neuron (SMN1) gene. The SMN protein has an essential role in the biogenesis of spliceosomal snRNPs, but the link between a defect in this process and specific splicing inhibition of pre-mRNAs has not been established. In this study, we report the construction of a temperature-degron (td) allele of the Schizosaccharomyces pombe SMN protein and show that its depletion at 37 degrees C affects splicing and formation of U1, U2, U4 and U5 snRNPs, but not of U6 and U3 ribonucleoproteins. The function of the tdSMN allele in snRNP assembly is already perturbed at 25 degrees C, suggesting a deleterious effect of the tag at this temperature. Using a genome-wide approach, we report that introns react unequally to lower levels of snRNPs in tdSMN cells and that increasing the length of the polypyrimidine tract can improve the splicing efficiency of some, but not all, affected introns. Altogether, our results suggest that the defects observed in tdSMN fission yeast cells mimic splicing deficits observed in SMN-deficient metazoan cells.

Annotation

Single locus phenotype

FYPO:0003683 - abnormal spliceosomal complex assembly

Genes:

Genotypes:

FYPO:0004204 - decreased mature snRNA level

Genes:

Genotypes:

FYPO:0003244 - decreased mRNA splicing, via spliceosome, intron-specific

Genes:

Genotypes:

FYPO:0003685 - decreased U2/U5/U6 snRNP complex level

Genes:

Genotypes:

FYPO:0001355 - decreased vegetative cell population growth

Genes:

Genotypes:

FYPO:0001908 - increased pre-mRNA level

Genes:

Genotypes:

FYPO:0002061 - inviable vegetative cell population

Genes:

Genotypes:

FYPO:0001317 - normal RNA level during vegetative growth

Genes:

Genotypes: