Fig. 2

Genomic structures of human KLK8 transcripts and loci reported in genetic association studies of mental disorders. aKLK8 spans 5.4 kb and is located at the long arm of chromosome 19 in human (19q13.4) and comprised 6 exons of which the first is non-coding. KLK8 cDNA contains a single open reading frame of 780 bp, resulting in a protein comprising 260 amino acids. Shown are exons (boxes) and their length in base pairs, approximate amino acid locations of the characteristic catalytic triad of serine proteases (H, D, and S) as well as start codon (arrow) and stop codon (star). The base pair sequence of exon 3 is shown in upper-case letters (numbers indicate position in coding sequence) and flanking intron sequence in lower-case letters. The base pair sequence specific for type 2 KLK8 is highlighted in grey and contains the 79 T > A variant (red box). b Depicted are identified KLK8 single nucleotide polymorphisms associated with bipolar disorder (BD), KLK8 missense mutation identified in schizophrenia, as well as KLK8 CpG site linked to depression symptomatology in the general population (red arrows)