THE GENE ENCODING THE OLIGODENDROCYTE-MYELIN GLYCOPROTEIN IS EMBEDDED WITHIN THE NEUROFIBROMATOSIS TYPE-1 GENE
THE GENE ENCODING THE OLIGODENDROCYTE-MYELIN GLYCOPROTEIN IS EMBEDDED WITHIN THE NEUROFIBROMATOSIS TYPE-1 GENE
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DOI：
10.1128/mcb.11.2.906
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发表时间：
1991-02-01
影响因子：
5.3
通讯作者：
WHITE, R
中科院分区：
文献类型：
--
作者：
VISKOCHIL, D;CAWTHON, R;WHITE, R
在鉴定1型神经纤维瘤病基因（NF1）的过程中，在NF1的内含子中发现了三个基因。其中一个基因（OMGP）的cDNA序列编码少突胶质细胞-髓鞘糖蛋白。OMGP横跨至少2.7 kb的基因组DNA，它在NF1患者携带的平衡染色体易位断点的4 kb范围内绘制。OMGP在基因组结构上与另外两个表达基因EV12A和EV12B相似，分别位于OMGP位点约20kb和5kb的端粒上。这三个基因具有相同的转录方向，并且包含在NF1的一个内含子中，该内含子在相反的链上转录。OMGP表达的改变是否在NF1的临床异质性中起作用尚不清楚。
In the course of efforts to identify the neurofibromatosis type 1 gene (NF1), three genes were found embedded within an intron of NF1. The cDNA sequence of one of these genes (OMGP) encodes oligodendrocyte-myelin glycoprotein. OMGP spans at least 2.7 kb of genomic DNA, and it maps within 4 kb of the breakpoint of a balanced chromosomal translocation carried by an individual with NF1. OMGP is similar in genomic structure to two other expressed genes, EV12A and EV12B, which lie approximately 20 and 5 kb telomeric of the OMGP locus, respectively. All three genes have the same transcriptional orientation and are contained within one intron of NF1, which is transcribed off the opposite strand. Whether altered expression of OMGP might play a role in the clinical heterogeneity of NF1 is as yet unclear.