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Related Experiment Videos

Repeat polymorphisms within gene regions: phenotypic and evolutionary implications.

J D Wren1, E Forgacs, J W Fondon

  • 1Program in Genetics, Southwestern Graduate School of Biomedical Sciences, Dallas, TX, USA.

American Journal of Human Genetics
|July 13, 2000
PubMed
Summary
This summary is machine-generated.

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Polymorphic tandem repeats in transcribed sequences are more common than previously thought, with many potentially impacting gene function and disease. This study provides a catalog of these repeats and insights into gene evolution.

Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • Tandem repeats are common in genomes, but their prevalence and functional impact within transcribed sequences, particularly concerning polymorphism, are not fully understood.
  • Previous estimates may underestimate the frequency of polymorphic tandem repeats in genes, potentially overlooking their role in genetic variation and disease.

Purpose of the Study:

  • To develop and apply an algorithm for predicting potentially polymorphic tandem repeats within human transcribed sequences.
  • To estimate the frequency of such repeats in annotated gene clusters (UniGene) and validate predictions experimentally.
  • To assess the functional implications of these polymorphisms, including potential frameshifts and their contribution to phenotypic variation or disease.

Main Methods:

Related Experiment Videos

  • Development of a computational algorithm to identify tandem repeats in transcribed sequences.
  • Application of the algorithm to the UniGene database to predict polymorphic loci.
  • Experimental validation of predicted polymorphisms using allelotyping on a panel of human individuals.

    • Main Results:

    • The algorithm predicted 11,265 potentially polymorphic tandem repeats in transcribed sequences.
    • An estimated 22% of UniGene clusters contain at least one potentially polymorphic tandem repeat locus.
    • Experimental validation confirmed polymorphism in over 50% of the tested loci, indicating a higher prevalence than previously assumed. Approximately 8% of these loci are in coding sequences, potentially causing frameshifts.

    Conclusions:

    • Tandem-repeat polymorphisms within transcribed sequences are significantly more common than generally believed.
    • The identified loci represent a valuable resource for studying genetic variation, phenotypic traits, and diseases.
    • The study also suggests that UniGene may overestimate the number of distinct human genes due to repetitive sequences in unannotated clusters.