A molecular inversion probe assay for detecting alternative splicing

BMC Genomics. 2010 Dec 17:11:712. doi: 10.1186/1471-2164-11-712.

Abstract

Background: A sensitive, high-throughput method for monitoring pre-mRNA splicing on a genomic scale is needed to understand the spectrum of alternatively spliced mRNA in human cells.

Results: We adapted Molecular Inversion Probes (MIPs), a padlock-probe based technology, for the multiplexed capture and quantitation of individual splice events in human tissues. Individual MIP capture probes can be quantified using either DNA microarrays or high-throughput sequencing, which permits independent assessment of each spliced junction. Using our methodology we successfully identified 100% of our positive controls and showed that there is a strong correlation between the data from our alternative splicing MIP (asMIP) assay and quantitative PCR.

Conclusion: The asMIP assay provides a sensitive, accurate and multiplexed means for measuring pre-mRNA splicing. Fully optimized, we estimate that the assay could accommodate a throughput of greater than 20,000 splice junctions in a single reaction. This would represent a significant improvement over existing technologies.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Alternative Splicing / genetics*
  • DNA Probes / metabolism
  • Exons / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Molecular Probe Techniques*
  • Molecular Probes / genetics*
  • Organ Specificity / genetics
  • ROC Curve
  • Reference Standards
  • Reproducibility of Results
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tropomyosin / genetics
  • Tropomyosin / metabolism

Substances

  • DNA Probes
  • Molecular Probes
  • TPM1 protein, human
  • TPM2 protein, human
  • Tropomyosin