Abstract
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes
Highlights
GUEST EDITORIALGuest Editorial Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes ‘In Nature’s infinite book of secrecy, a little I can read.’
Pathological mutations occurring within the extended consensus sequences of exon –intron splice junctions account for 10 per cent of all inherited lesions logged in The Human Gene Mutation Database (HGMDw; http://www.hgmd. org)1 and are frequently encountered in mutation screening studies
Some intronic polymorphic variants do not occur within the splice junctions, but still act so as to change the splicing phenotype as a consequence of their being located within an intron splice enhancer or branchpoint site, or by activating a cryptic splice site
Summary
Guest Editorial Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes ‘In Nature’s infinite book of secrecy, a little I can read.’. As has been noted with pathological mutations, the vast majority of known functional intronic polymorphisms are located within the extended consensus sequences of exon –intron splice junctions.. Some intronic polymorphic variants do not occur within the splice junctions, but still act so as to change the splicing phenotype as a consequence of their being located within an intron splice enhancer or branchpoint site, or by activating a cryptic splice site.. Some intronic polymorphic variants do not occur within the splice junctions, but still act so as to change the splicing phenotype as a consequence of their being located within an intron splice enhancer or branchpoint site, or by activating a cryptic splice site.11,12 This is, from a biological point of view, a more interesting category of intronic SNP to study, since the.
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