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Related Experiment Videos

Allele-specific transcript isoforms in human.

Victoria Nembaware1, Kenneth H Wolfe, Fabiana Bettoni

  • 1Computational Biology Group, University of Cape Town, Rondebosch 7701, Cape Town, South Africa.

FEBS Letters
|November 6, 2004
PubMed
Summary
This summary is machine-generated.

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Many human genes show multiple transcripts, but allele differences, not just alternative splicing, can cause this. Our study estimates 21% of alternatively spliced genes are affected by genetic polymorphisms.

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Estimates of alternative mRNA splicing rely on observing multiple transcripts per gene.
  • Differences in gene sequences between alleles (polymorphisms) can also lead to multiple observed transcripts.
  • Previous work noted allele-specific splicing but lacked systematic quantification.

Purpose of the Study:

  • To investigate the impact of genetic polymorphisms on observed transcript isoform diversity.
  • To estimate the proportion of alternatively spliced genes influenced by allele-specific variations.

Main Methods:

  • Integrated analysis of the dbSNP, dbEST, and ASAP databases.
  • Statistical assessment of the association between transcript isoforms and nucleotide polymorphisms.

Related Experiment Videos

  • Estimation of polymorphism influence on alternative splicing.

    • Main Results:

    • A significant non-random association was found between alternative transcript isoforms and closely linked nucleotide polymorphisms.
    • An estimated 21% of alternatively spliced genes are affected by polymorphisms altering transcript form or abundance.
    • A conservative lower bound of 6% was established for this estimate.

    Conclusions:

    • Genetic polymorphisms significantly contribute to the observed diversity of gene transcripts.
    • The prevalence of alternative splicing is potentially overestimated due to allele-specific effects.
    • Absolute confirmation of alternative splicing requires observing multiple transcripts from a single allele.