Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

摘要

a The location of exonic CNVs in KDM4C. The upper track shows the genomic position of the deletions (red bar) and duplications (blue bar). The lower track shows the gene annotations in RefSeq. The two transcript variants of KDM4C possessing different numbers of exons are depicted: transcript variant 4 (NM_ 001146696.2) and transcript variant 1 ({"type":"entrez-nucleotide","attrs":{"text":"NM_015061.6","term_id":"1788703479","term_text":"NM_015061.6"}}NM_015061.6). Several other minor transcript variants of KDM4C were not shown ({"type":"entrez-nucleotide","attrs":{"text":"NM_001146695.4","term_id":"1788703481","term_text":"NM_001146695.4"}}NM_001146695.4, {"type":"entrez-nucleotide","attrs":{"text":"NM_001304340.4","term_id":"1788703478","term_text":"NM_001304340.4"}}NM_001304340.4, {"type":"entrez-nucleotide","attrs":{"text":"NM_001304339.4","term_id":"1788703493","term_text":"NM_001304339.4"}}NM_001304339.4, {"type":"entrez-nucleotide","attrs":{"text":"NM_001304341.4","term_id":"1788703482","term_text":"NM_001304341.4"}}NM_001304341.4, {"type":"entrez-nucleotide","attrs":{"text":"NM_001353997.3","term_id":"1788703477","term_text":"NM_001353997.3"}}NM_001353997.3, {"type":"entrez-nucleotide","attrs":{"text":"NM_001353998.3","term_id":"1788703461","term_text":"NM_001353998.3"}}NM_001353998.3, {"type":"entrez-nucleotide","attrs":{"text":"NM_001353999.3","term_id":"1788703472","term_text":"NM_001353999.3"}}NM_001353999.3, {"type":"entrez-nucleotide","attrs":{"text":"NM_001354000.3","term_id":"1788703469","term_text":"NM_001354000.3"}}NM_001354000.3, and {"type":"entrez-nucleotide","attrs":{"text":"NM_001354001.3","term_id":"1788703467","term_text":"NM_001354001.3"}}NM_001354001.3). All the minor transcript variants have the same location of the first exon with the transcript variant 1. b Breakpoints of CNVs in KDM4C determined by Sanger sequencing. The red bars represent deletions and the blue bars represent duplications. Position of the breakpoints is marked by green arrowheads. The microhomologies were shown in underline. Genomic locations are given in NCBI build 36/UCSC hg18 coordinates. SCZ schizophrenia, ASD autism spectrum disorder.