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. Author manuscript; available in PMC: 2015 May 13.
Published in final edited form as: Nature. 2014 Oct 29;515(7526):209–215. doi: 10.1038/nature13772

Figure 3. ASD genes in chromatin remodeling.

Figure 3

a. TADA genes cluster to chromatin remodeling complexes. Amino terminals of histones H3, H4 and part of H2A, are shown. Lysine methyltransferases add methyl groups, while lysine demethylases remove them. b. De novo Mis3 and LoF variants in CHD8. The box shows the outcome of RT-PCR and Sanger sequencing in lymphoblastoid cells for two newly identified de novo splice-site variants. The first mutation hits an acceptor splice site (red arrow), causing the activation of a cryptic splice site (red box), a four-nucleotide deletion, frame shift and a premature stop. The second mutation hits a donor splice site (red arrow), causing exon skipping, frame shift and a premature stop.