DevilInside wrote:
you are missing my point ENTIRELY if you want to see the specific sequence of the gene in autistics, because changes in a gene that is related to a disorder on a species level might be more informative about the evolutionary background of that disorder than comparing the sequence of a disordered person to a typical person within that population, the point was, this gene has undergone major selection in our lineage, why? why is it related to autism? were the changes related to the autistic brain phenotype?
There are other examples like this that are not related to brain. Look at the CFTR gene. It has thousands of variants, which means it too has undergone major recent selection.
Why does this happen? Probably because these genes disrupt some other functions. This is a very probable consequence of recent hybridization (with Neanderthal).
In the case of CFTR, we know that certain variants of CFTR causes disease (Cystic Fibrosis), but why are not these variants selected out? Why do the CFTR gene mutate at various points instead of a single functional variant being retained? Possibly because it provide/provided an advantage in combination with other genes. AUTS2 could be similar.
The problem with the AGRE-database, and most of the autism genetic research usign it, is that it compares LFAs with "unaffected siblings", which is not a method we could use to sort out how the Aspie phenotype relates to genetics.
Last edited by rdos on 26 Dec 2010, 4:27 am, edited 1 time in total.