The evolution of an alternatively spliced exon in the alphaA-crystallin gene

J Mol Evol. 2001 Jun;52(6):510-5. doi: 10.1007/s002390010181.

Abstract

The evolutionary aspects of alternative splicing, as a mechanism to increase the diversity of gene products, are poorly understood. Here we analyse the evolution of a 69-bp exon that is alternatively spliced in the primary transcript of the gene for the mammalian eye lens protein alphaA-crystallin. In rodents, the skipping of this exon 2 is attributed to the presence of a non-consensus 5' splice site GC, and results in the expression of 10-20% of alphaA(ins)-crystallin, with an insert of 23 residues, as compared with normal alphaA-crystallin. alphaA(ins)-crystallin is also expressed in some non-rodent mammals, including kangaroo, while lacking in others. We now demonstrate that the alternatively spliced exon 2 is present in mammals from different orders that do not express alphaA(ins)-crystallin. The expression of this exon has thus been silenced independently in various lineages. Sequence comparison in 16 species reveals that--whether or not alphaA(ins)-crystallin is expressed--exon 2 is always flanked by the non-consensus donor splice site GC, while a consensus branch point sequence and 3' pyrimidine-rich region are hardly detectable in the downstream intron. Increased numbers of amino acid replacements in the peptide encoded by exon 2 indicate that it is subject to much lower selective constraints than the exons that code for normal alphaA-crystallin. The absence of any apparent advantage at the protein level may suggest that exon 2 DNA sequences are conserved as cis-acting factors for proper splicing of the alphaA-crystallin transcript.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Southern
  • Cattle
  • Crystallins / chemistry*
  • Crystallins / genetics*
  • Evolution, Molecular*
  • Exons*
  • Introns
  • Lens, Crystalline / metabolism
  • Mammals
  • Molecular Sequence Data
  • Peptides / chemistry
  • Phylogeny
  • RNA, Messenger / metabolism
  • Rats
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid

Substances

  • Crystallins
  • Peptides
  • RNA, Messenger