Note in Science page
Created Jan 21 08, Updated Sep 07 10 14:38
Tiny genetic differences have huge consequences go to comments

Regulatory effects of small genetic variation

A study led by McGill University researchers has demonstrated that small DNA differences between individuals (single nucleotide polymorphisms – SNPs) can lead to dramatic differences in the way genes produce proteins. These, in turn, are (in part) responsible for the large differences in physical characteristics between individuals.

Majewski and his colleagues have demonstrated that the natural processing of messenger RNA (mRNA), via a process called splicing, is “modulated” by these SNPs. The SNPs in certain individuals lead to changes in splicing and result in the production of drastically altered forms of the encoded protein.

We detected 324 genes with significant associations between flanking SNPs and transcript levels. Of these, 39% reflected changes in whole gene expression and 55% reflected transcript isoform changes such as splicing variants (exon skipping, alternative splice site use, intron retention), differential 5’ UTR (initiation of transcription) use, and differential 3’ UTR (alternative polyadenylation) use.

mcgill link
Genome-wide analysis of transcript isoform variation in humans [Nature genetics link]

SNPs related and fun:
Eye Color Explained [discovermagazine]


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