Molecular Biology and Evolution, Vol 16, 1528-1534, Copyright © 1999 by Society for Molecular Biology and Evolution
M Long and M Deutsch
How exon-intron structures of eukaryotic genes evolved under various
evolutionary forces remains unknown. The phases of spliceosomal introns
(the placement of introns with respect to reading frame) provide an
opportunity to approach this question. When a large number of nuclear
introns in protein-coding genes were analyzed, it was found that most
introns were of phase 0, which keeps codons intact. We found that the phase
distribution of spliceosomal introns is strongly correlated with the
sequence conservation of splice signals in exons; the relatively
underrepresented phase 2 introns are associated with the lowest
conservation, the relatively overrepresented phase 0 introns display the
highest conservation, and phase 1 introns are intermediate. Given the
detrimental effect of mutations in exon sequences near splice sites as
found in molecular experiments, the underrepresentation of phase 2 introns
may be the result of deleterious-mutation-driven intron loss, suggesting a
possible genetic mechanism for the evolution of intron- exon structures.
ORIGINAL ARTICLE
Association of intron phases with conservation at splice site sequences and evolution of spliceosomal introns
Department of Ecology and Evolution, University of Chicago, Illinois 60637, USA. mlong@midway.uchicago.edu
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