Figure 1. .

Genomic sequencing analysis of the DYT3 region. a, Physical map of the DYT3 critical region on Xq13.1. Annotated genes in this region that have experimentally verified coding sequences (and their proteins) include NLGN3 (neuroligin 3), GJB1 (gap junction protein, beta-1), ZNF261 (zinc finger protein 261), NONO (non-POU domain–containing octamer-binding protein), ITGB1BP2 (melusin [integrin beta-1 binding protein 2]), TAF1 (TAF-250 [TATA-binding protein-associated factor, 250 kDa]), ING2 (inhibitor of growth 2), OGT (O-linked N-acetylglucosamine transferase), ACRC (acid repeat–containing gene), and CXCR3 (chemokine, CXC motif, receptor 3). The broken arrow indicates MTS. A unique Southern probe was designed for the HindIII-digested fragment containing the SVA retrotransposon insertion. Eight BAC clones comprising a continuous contig map cover 462,651 bp, from 66572462 to 67035112 in NCBI build 30. A total sequence length of 463,567 bp was determined, with 5.7-fold redundancy. Also shown is the distribution of 159 nucleotide variants that were identified by sequencing. None of these variants is located in any exon of these genes, including their alternative splicing forms. A red arrowhead indicates the SVA insertion. b, The SVA insertion in the XDP-related and healthy control populations. Information on the patients with XDP is given in table 1 (patients 1–13). The SVA insertion produces a 6.1-kb fragment, whereas the wild type produces a 3.4-kb fragment. Arrowheads in the gel indicate female individuals. Carriers are defined as mothers or daughters of patients with XDP. Possible carriers are daughters or sons of these carriers. NC = negative control.