Molecular and cellular biology · 1991
The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene.
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Viskochil D, Cawthon R, O'Connell P, Xu G F, Stevens J, Culver M, Carey J, White R
Аннотация
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.
Предметные рубрики MeSH
Amino Acid SequenceBase SequenceBiological EvolutionCell LineChild, PreschoolChromosomes, Human, Pair 1Chromosomes, Human, Pair 17Cloning, MolecularFemaleGPI-Linked ProteinsGene LibraryHumansIntronsMembrane GlycoproteinsMolecular Sequence DataMyelin ProteinsMyelin-Associated GlycoproteinMyelin-Oligodendrocyte GlycoproteinNerve Tissue ProteinsNeurofibromatosis 1Restriction MappingTranslocation, Genetic