Genetic variation from transcriptome to proteome

The relationship between genetic diversity and proteins is less direct than quantification of gene expression

Figure 11.11 Splicing events, the splicing code, and spliceosome. (A) Pre-mRNA showing exons and introns with consensus splice site sequences at the boundaries of introns and exons. (B) Detail of a spliceosome and c/s-regulatory elements. The main splice signals comprise 5' and 3'splice sites, a branch site, and a polypyrimidine tract found upstream of the 3' splice site. Exonic and intronic cis-regulatory elements (enhancers and suppressors) are required for the regulation of constitutive and alternative splicing. U1 and U2 small nuclear ribonucleoproteins (snRNPs) bind to the 5' splice site and branch site. Further details of the splicing code and regulation are reviewed in Wang and Cooper (2007) and Kim et al. (2008). (C) The main subgroups of alternative splicing are illustrated: exon skipping (prevalence 38.4%), alternative acceptor site (18.4%), alternative donor site (7.9%), and intron retention (2.8%). More complex events not shown include mutually exclusive events, alternative transcription start sites, and multiple polyadenylation sites (Kim et al. 2008). Constitutive exons are shown in black, alternatively spliced regions in light grey, and splicing options by dashed lines. Redrawn and reprinted by permission from Macmillan Publishers Ltd: Nature Reviews Genetics (Wang and Cooper 2007), copyright 2007; and with permission from Kim et al. (2008) .

rs10954213

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