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A mechanism for a single nucleotide intron shift.

Erzsébet Fekete1, Michel Flipphi1, Norbert Ág1

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Summary

Intron sliding, or shifting, occurs when spliceosomal introns change positions in genes. This study proposes an evolutionary pathway involving alternatively spliced stwintrons (split introns) to explain this phenomenon.

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Area of Science:

  • Molecular Biology
  • Genomics
  • Evolutionary Biology

Background:

  • Spliceosomal introns can exhibit positional variations (intron sliding) in orthologous genes.
  • Stwintrons are complex introns that generate new canonical introns upon excision.
  • Previous work demonstrated stwintrons with alternatively excised internal introns overlapping by a single nucleotide.

Purpose of the Study:

  • To investigate intron configurations in the DHA1 antiporter gene in Pezizomycotina.
  • To explore the role of stwintrons in intron sliding.
  • To propose an evolutionary mechanism for intron shifting.

Main Methods:

  • Genomic data analysis of Pezizomycotina.
  • Experimental confirmation of stwintron configurations in Aspergillus nidulans.
  • Demonstration of alternative overlapping internal introns in Trichoderma reesei.

Main Results:

  • Observed various predicted intron configurations in the DHA1 antiporter gene.
  • Confirmed stwintrons interrupting the donor site of external introns.
  • Demonstrated alternative, overlapping internal introns and discordant canonical introns separated by one nucleotide.

Conclusions:

  • The findings support an evolutionary pathway for 1 nucleotide intron shift.
  • Alternatively spliced stwintrons serve as intermediates in intron sliding.
  • Genomic and experimental data elucidate mechanisms of intron positional evolution.