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编码少突胶质细胞-髓磷脂糖蛋白的基因嵌入在1型神经纤维瘤病基因内。

The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene.

作者信息

Viskochil D, Cawthon R, O'Connell P, Xu G F, Stevens J, Culver M, Carey J, White R

机构信息

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City 84132.

出版信息

Mol Cell Biol. 1991 Feb;11(2):906-12. doi: 10.1128/mcb.11.2.906-912.1991.

Abstract

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, EVI2A and EVI2B, 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.

摘要

在鉴定1型神经纤维瘤病基因(NF1)的过程中,发现有三个基因嵌入在NF1的一个内含子中。其中一个基因(OMGP)的cDNA序列编码少突胶质细胞-髓磷脂糖蛋白。OMGP跨越至少2.7 kb的基因组DNA,并且定位于一名NF1患者所携带的平衡染色体易位断点的4 kb范围内。OMGP在基因组结构上与另外两个表达基因EVI2A和EVI2B相似,它们分别位于OMGP基因座端粒大约20 kb和5 kb处。这三个基因具有相同的转录方向,并且都包含在NF1的一个内含子中,该内含子从相反链转录。OMGP表达的改变是否可能在NF1的临床异质性中起作用尚不清楚。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed52/359746/10011bcfc410/molcellb00137-0335-a.jpg

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