DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1.
DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1.
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DOI：
10.1006/geno.1998.5243
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发表时间：
1998-04
期刊：
影响因子：
4.4
通讯作者：
D. G. Stathakis;D. Lee;P. Bryant
中科院分区：
文献类型：
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作者：
D. G. Stathakis;D. Lee;P. Bryant
神经内分泌- DLG （NE-Dlg）是膜相关鸟苷激酶相关蛋白家族中椎间盘大相关（DLG）亚家族的成员。基于模型系统的证据，该蛋白似乎对突触发生至关重要，作为整体膜蛋白及其与细胞骨架相关的下游信号分子的位点特异性组织中心。NE-Dlg还直接与结直肠肿瘤抑制因子大肠腺瘤性息肉病相互作用，提示其可能在上皮细胞中发挥调节细胞增殖的作用。为了探索NE-Dlg的遗传控制，我们开发了包含编码NE-Dlg的基因座DLG3的染色体区域的物理图谱。利用人-仓鼠辐射杂交图谱，将DLG3定位于Xq13.1，建立了周边区域序列标记位点标记图谱。然后，我们为该区域开发了酵母人工染色体（YAC）组。在5个重叠的YACs中包含约2.0 Mb，该基因群还包括肌张力障碍-帕金森综合征（DYT3）基因座。DLG3与DYT3区域的接近表明编码ne - DLG3的基因是这种神经系统疾病的候选位点。
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.