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Related Experiment Videos

Polymorphisms in a pseudogene highly homologous to PMS2.

R B Chadwick1, J E Meek, T W Prior

  • 1Division of Human Cancer Genetics, The Ohio State University, Columbus, Ohio, USA.

Human Mutation
|January 11, 2000
PubMed
Summary

A newly discovered pseudogene highly similar to the PMS2 gene may be mistaken for actual PMS2 mutations. This finding is crucial for accurate diagnosis of hereditary nonpolyposis colorectal cancer and Turcot's syndrome.

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Recurrent and founder mutations in the PMS2 gene.

Clinical genetics·2012

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • The PMS2 gene is part of a DNA repair complex crucial for preventing tumorigenesis.
  • Germline mutations in PMS2 are rare causes of hereditary nonpolyposis colorectal cancer (HNPCC) and Turcot's syndrome.

Purpose of the Study:

  • To identify and characterize a highly homologous pseudogene of PMS2.
  • To investigate potential diagnostic challenges arising from pseudogene polymorphisms.

Main Methods:

  • Bioinformatic analysis to identify homologous sequences.
  • Sequence analysis of the PMS2 gene and its pseudogene, focusing on exon 11 repeat regions.

Main Results:

  • A nonexpressed pseudogene highly homologous to PMS2 was identified.

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  • This pseudogene exhibits polymorphisms in the repeat region, including a 3 bp deletion and an AA to GG substitution.
  • High sequence homology extends to both intronic and exonic regions.

    • Conclusions:

    • Polymorphisms in the PMS2 pseudogene can be erroneously interpreted as pathogenic mutations.
    • This misinterpretation could lead to incorrect diagnoses of HNPCC and/or Turcot's syndrome.
    • Awareness of this pseudogene is essential for accurate genetic testing and counseling.