Structural polymorphism of LRRC37 genes as H1 and H2 haplotypes. (A) Relative fold expression of the LRRC37 family was detected by real-time PCR using the lymphocyte-derived cell lines. The figure shows the relative fold expression of all LRRC37 genes (All) between GM12236 (H2/H2), GM12156 (H1/H2), and GM18507 (H1/H1) individuals. Expression data were normalized against the housekeeping gene UBE1. (B) PCR analysis is performed to confirm the genotype of H1 and H2 individuals using a diagnostic indel (Evans et al. 2004). (C) A mirorepeats alignment comparing the human chromosome 17 H1 reference sequence to a sequence from an alternate H2 haplotype. The alignment depicts a 1.5-Mb inversion region of the MAPT locus. (Arrow) The transcription start point from Cl3 (green), Cl8 (purple), and testis-specific (light blue) promoters at the 5′ upstream region of LRRC37 genes LRRC37A1, A2, and A4, respectively. (Red lines) The exons for the respective LRRC37 genes. (Green lines) The boundary of the inversion region within the LRRC37 genes. Each line (green or blue) shows 100 bp of homology. The figure is drawn to scale.
