I just came across another argument for why the regulatory changes vs. protein coding changes argument is inane— sometimes protein-coding changes are regulatory changes. Ok, maybe RPM made that point in the comments on that post I linked, but here’s a great example, from a recent paper:
The authors looked for local regulatory variation in a number of genes, and found one instance where the putative regulatory variant mapped to a protein-coding SNP inside the gene. On a little further study, they found the story goes like this– the gene itself (AMN1) is a regulator of two other genes (DSE1 and DSE2) in a network, and those genes, in turn, regulate AMN1. The coding change in the gene keeps it from playing its proper role in the network, so DSE1 and DSE2 are upregulated and, in turn, up-regulate AMN1. I’m sure there’s an easier way to explain this, but the take-home message is that a protein-coding change in AMN1 leads, indirectly, to it’s own regulation.
So the genetics underlying gene expression can be rather complex. And just think, it’s networks of interacting genes that lead to phenotypes–the complexity is rather daunting, and I feel like first understanding gene expression is certainly a great first step towards getting at phenotypic complexity itself (there’s another great first step, but no one seems to have taken it…yet). For those who simply must know more, here‘s a great review of the current knowledge on the genetics of gene expression.
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