Figure 2

Sequence and variations located in the promoter sequences of the ASMT (A), MTNR1A (B), andthe MTNR1B (C) genes. Rare variants identified in ASD patients in our screen are indicated in red. Putative binding sites for major known transcription factors and transcription factor binding sites close to identified mutations are indicated. CCAC-boxes are indicated in yellow and the CAAT-BOX in ASMT is indicated in dark green. As reported previously, TATA-boxes are not present in any of the promoter regions examined. The two SNPs (rs4446909 and rs5989681) in ASMT previously associated [15] with autism and low transcript levels are indicated in pink.