Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes

David N Cooper

doi:10.1186/1479-7364-4-5-284

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

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.

Functional intronic polymorphisms

Risk of childhood acute lymphoblastic leukaemia in males

Findings

Association with familial combined hyperlipidaemia