title: DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1.
abstract: Neuroendocrine-Dlg (NE-Dlg) is a member of the discs-large-related (DLG) subfamily of the membrane-associated guanylate kinase-related protein family. Based on evidence from model systems, this protein appears to be critical for synaptogenesis, acting as a site-specific organizational center for integral membrane proteins and their downstream signaling molecules associated with the cytoskeleton. NE-Dlg also directly interacts with the colorectal tumor suppressor adenomatous polyposis coli, suggesting that it may play a role in regulating cell proliferation in epithelial cells. To explore the genetic control of NE-Dlg, we developed a physical map of the chromosome region containing DLG3, the locus encoding NE-Dlg. Using human-hamster radiation hybrid mapping panels, we mapped DLG3 to Xq13.1 and established a sequence-tagged site marker map of the surrounding region. We then developed a yeast artificial chromosome (YAC) contig for this region. Encompassing approximately 2.0 Mb contained within five overlapping YACs, this contig also includes the dystonia-parkinsonism syndrome (DYT3) locus. The close proximity of DLG3 to the DYT3 region suggests that the gene encoding NE-Dlg is a candidate locus for this neurological disorder.
authors.affiliation: Developmental Biology Center, University of California, Irvine 92697-2275, USA. dgstatha@uci.edu
authors.forename: D G
authors.initials: DG
authors.lastname: Stathakis
authors.forename: D
authors.initials: D
authors.lastname: Lee
authors.forename: P J
authors.initials: PJ
authors.lastname: Bryant
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000818:Animals; D002874:Chromosome Mapping; D006224:Cricetinae; D000074288:Discs Large Homolog 1 Protein; D004421:Dystonia / Q000235:genetics*; D006801:Humans; D019476:Insect Proteins / Q000235:genetics*; D008565:Membrane Proteins; D009687:Nuclear Proteins; D010300:Parkinson Disease / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D014157:Transcription Factors; D014960:X Chromosome / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C513314:DLG1 protein, human; C116869:DLG3 protein, human; D000074288:Discs Large Homolog 1 Protein; D019476:Insect Proteins; D008565:Membrane Proteins; D009687:Nuclear Proteins; D011506:Proteins; D014157:Transcription Factors