Individual Differences

See allHide authors and affiliations

Science  15 Jan 2010:
Vol. 327, Issue 5963, pp. 251
DOI: 10.1126/science.327.5963.251-c

RNA splicing serves to stitch together the protein-coding regions of genes while snipping out the intervening noncoding sequences. As a consequence, RNAs may differ if the splicing machinery chooses one set of regions over an alternative set, and the resulting protein iso-forms may vary in a genetically determined way. In a study of the amount of alternative splicing in humans, Coulombe-Huntington et al. have found that over 70% of genes show genetically controlled splice site usage that varied across individuals, and in some cases, they were able to identify the single-nucleotide polymorphism responsible. Understanding the underlying causes of variation in protein levels and iso-forms may help to explain the genetic determination of phenotypic diversity.

PLoS Genet. 5, e1000766 (2009).

Navigate This Article