@article{oai:niigata-u.repo.nii.ac.jp:00017780, author = {石田, 義則}, issue = {11}, journal = {新潟医学会雑誌, 新潟医学会雑誌}, month = {Nov}, note = {Expansion of CAG repeat has been established as a new disease mechanism for hereditary neurodegenerative diseases. The mechanism of neurodegeneration caused by the expanded CAG repeat, however, remains unknown. An intriguing possibility is a positional effect caused by the expanded CAG repeat affecting the expression of the adjacent genes. To elucidate whether such positional effect is involved in the mechanisms of neurodegeneration, we performed detailed structural analysis of the genomic region flanking the gene for dentatorubral-pallidoluysian atrophy(DRPLA), an autosomal dominant neurodegenerative disorder caused by unstable expansion of CAG repeat on 12p13.31. We constructed a cosmid genomic library using genomic DNA of a DRPLA patient containing the largely expanded CAG repeat(79 repeat units), and cloned the genomic DNA containing the mutant DRPLA gene(DRPLA 18E). By screening a human brain frontal cortex cDNA library using the fragments of the genomic clone as the probes, we isolated 18 independent cDNA clones. By detailed nucleotide sequence analysis of these cDNA clones, we identified 3 genes in addition to the DRPLA gene. Of the 3 genes, one gene codes for neuron-specific enolase(NSE)and the others are a novel gene and a novel mRNA for DRPLA. The NSE gene was found to be located approxirnately 5 kb upstream of the DRPLA gene, and the novel gene was located upstream of the NSE gene.}, pages = {518--527}, title = {歯状核赤核・淡蒼球ルイ体萎縮症(Dentatorubral-Pallidoluysian Atrophy : DRPLA)遺伝子周辺のゲノム構造及び発現遺伝子の同定}, volume = {110}, year = {1996} }