@article{oai:niigata-u.repo.nii.ac.jp:00016624, author = {小宅, 睦郎}, issue = {7}, journal = {新潟医学会雑誌, 新潟医学会雑誌}, month = {Jul}, note = {Dentatorubral-pallidoluysian atrophy(DRPLA)is an autosomal dominant neurodegenerative disease caused by expansion of an unstable CAG repeat in a novel gene mapped to chromosome 12p. Although nucleotide sequence of this gene transcript and its expession in both normal and affected individuals are determined, the functions of this gene product and the mechanisms responsible for selective neuronal death remain to be elucidated. As a first step to develop an animal model for DRPLA, we isolated a murine homolouge cDNA for DRPLA. The consensus cDNA spanned 4103 bp. encoding 1175 amino acids protein. The murine homolouge exhibited 86 % nucleotide and 92 % amino acid identities to the corresponding human sequences. Nucleotide sequece analysis revealed that murine cDNA contained shorter CAG repeat than that of human DRPLA cDNA. The CAG repeat ranged from three to eight repeat. The numbers of CAG repeats varied among different phylogenetic mice but were constant within the same phylogenetic ones. Northern blot analysis revealed that a single 4.5 kb. transcript was widely expressed in all tissues examined and most abundant in brain. During embryonal stages, DRPLA mRNA was expressed with little variation.}, pages = {400--413}, title = {マウス歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)遺伝子のcDNAのクローニング}, volume = {112}, year = {1998} }