MECP2 and brain structure

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ScienceDaily, Genetic Variations Linked To Brain Size. The write-up seems a bit garbled to me, so probably best to read the paper, A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations, when it is live on the PNAS site.

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  1. You know, when PNAS finally gets there stuff together, it would be nice if they had a functional site that actually has the papers reported. 
    I’m sure they’ll get it up since I’ve already complained to them (again) about their site’s deficiencies. But PNAS is a clusterf-ck.

  2. Can anyone tell me which SNP(s) are involved, and what are the derived values for the alleles – as I understand there may be a link to autism also, which is interesting – thanks.

  3. Yeah, I got a pre-release of the paper which, by the way, is still not live on the website and the SNP is rs2239464. 
    It’ll be interesting to see if this replicates. PNAS can s-ck my p-nats. You can email me if you want the pdf.

  4. I’ve been waiting for PNAS to get this online for over a week now – glad to see I’m not the only one.

  5. pnas does this all the time. i used to complain about it, but no point….

  6. Here is a graph of the gene MECP2, SNP rs223946 distribution worldwide. 
    It seems that the Basque have the highest values for the derived form (rs2239464=G), followed by the Sardinians and Orcadians. I also have the derived form…