Roth M P, Malfroy L, Offer C, Sevin J, Enault G, Borot N, Pontarotti P, Coppin H
Institut Fédératif de Recherche INSERM/CNRS/UPS, CHU Purpan, Toulouse, France.
Genomics. 1995 Jul 20;28(2):241-50. doi: 10.1006/geno.1995.1137.
Human myelin oligodendrocyte glycoprotein (MOG), a myelin component of the central nervous system, is a candidate target antigen for autoimmune-mediated demyelination. We have isolated and sequenced part of a cosmid clone that contains the entire human MOG gene. The primary nuclear transcript, extending from the putative start of transcription to the site of poly(A) addition, is 15,561 nucleotides in length. The human MOG gene contains 8 exons, separated by 7 introns; canonical intron/exon boundary sites are observed at each junction. The introns vary in size from 242 to 6484 bp and contain numerous repetitive DNA elements, including 14 Alu sequences within 3 introns. Another Alu element is located in the 3'-untranslated region of the gene. Alu sequences were classified with respect to subfamily assignment. Seven hundred sixty-three nucleotides 5' of the transcription start and 1214 nucleotides 3' of the poly(A) addition sites were also sequenced. The 5'-flanking region revealed the presence of several consensus sequences that could be relevant in the transcription of the MOG gene, in particular binding sites in common with other myelin gene promoters. Two polymorphic intragenic dinucleotide (CA)n and tetranucleotide (TAAA)n repeats were identified and may provide genetic marker tools for association and linkage studies.
人髓鞘少突胶质细胞糖蛋白(MOG)是中枢神经系统的一种髓鞘成分,是自身免疫介导脱髓鞘的候选靶抗原。我们分离并测序了一个包含整个人MOG基因的黏粒克隆的部分序列。从假定的转录起始位点到聚腺苷酸化位点的初级核转录本长度为15561个核苷酸。人MOG基因包含8个外显子,由7个内含子隔开;在每个连接处均观察到典型的内含子/外显子边界位点。内含子大小从242到6484 bp不等,包含许多重复DNA元件,包括3个内含子中的14个Alu序列。另一个Alu元件位于该基因的3'非翻译区。根据亚家族分类对Alu序列进行了分类。还对转录起始位点上游763个核苷酸和聚腺苷酸化位点下游1214个核苷酸进行了测序。5'侧翼区显示存在几个可能与MOG基因转录相关的共有序列,特别是与其他髓鞘基因启动子共有的结合位点。鉴定出两个多态性基因内二核苷酸(CA)n和四核苷酸(TAAA)n重复序列,它们可能为关联研究和连锁研究提供遗传标记工具。