Figure 1 | Scientific Reports

Figure 1

From: Genetic and animal model analyses reveal the pathogenic role of a novel deletion of RELN in schizophrenia

Figure 1

Detailed analysis of the exonic deletion in RELN. (a) The genomic coordinate of the exonic deletion is chr7:103491184–103503783. This deletion includes exons 52 to 58 of NM_005045.3. aCGH data are shown in a magnified view. (b) Schematic representation of the mutant RELN. The deletion corresponds to amino acid residues 2759 to 3148 (NP005036.2) within Reelin repeats 7 and 8. (c) Western blotting analysis of RELN in human serum. Recombinant RELN from HEK293T cells was included as a reference (lane 1). Arrowheads indicate full-length RELN (FL; 430 kDa), the C-t site cleaved form (NR6; 330 kDa), and the N-t site cleaved form (NR2; 160 kDa). In human serum, FL and NR6, but not NR2, were detected using an anti-RELN 142 antibody. In the serum of SCZ0782, the amount of NR6 was lower than that in the serum of other patients. Molecular mass markers (kDa) are indicated on the right side of the panel. This blot is cropped from the full-length blot presented in Supplementary Fig. S2.

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