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Two variants of MutS homolog hMSH5: prevalence in humans and effects on protein interaction

Wei Yi1, Xiling Wu, Tai-Hsien Lee

  • 1School of Molecular Biosciences and Center for Reproductive Biology, Washington State University, Pullman 99164-4660, USA.

Biochemical and Biophysical Research Communications
|May 24, 2005
PubMed

Insights

Researchers identified two forms of the human MSH5 (hMSH5) gene, including a splicing variant and a polymorphism. These variants exhibit distinct properties, suggesting functional diversity in DNA repair and recombination processes.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • The MSH5 gene is crucial for DNA damage response and meiotic homologous recombination.
  • Understanding MSH5 variants is important for elucidating its diverse cellular functions.

Purpose of the Study:

  • To characterize a novel splicing variant (hMSH5sv) and a polymorphism (P29S) of the human MSH5 gene.
  • To investigate the functional consequences of these variants on protein interactions.

Main Methods:

  • Splicing variant characterization through analysis of intron retention.
  • Polymorphism identification and its effect on amino acid sequence (P29S).
  • Protein interaction studies with hMSH4.

Main Results:

  • A splicing variant (hMSH5sv) was identified, involving intron 6 retention, which maintains interaction with hMSH4.
  • A polymorphism (C85T) resulted in a P29S amino acid change within the hMSH4/hMSH5 interaction domain, weakening the interaction.
  • Two distinct forms of hMSH5 variants were found in human cells.

Conclusions:

  • The study reveals two functional forms of hMSH5, a splicing variant and a polymorphism.
  • These variants possess different properties, highlighting the functional diversity of the human MSH5 gene in cellular processes.

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