title: Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C.
abstract: Mutations in vacuolar protein sorting 13A (VPS13A) gene are responsible for chorea-acanthocytosis (ChAc). We previously determined the full-length sequence and exon-intron structure of mouse VPS13A and generated a ChAc model mouse by using the gene targeting technique. In the process, we found diverse 5' and 3' transcript variants. Since ChAc is a rare neurodegenerative disorder, the mouse model should be useful for investigation of ChAc molecular pathogenesis, and the model's brain specific variants of VPS13A will be indispensable in these investigations. In the present study, we investigated mouse VPS13A transcript variants. We found brain-specific variants of mouse VPS13A, which may be involved in the brain-specific pathology of ChAc. In addition, we identified for the first time mouse VPS13C cDNA sequences and brain-specific variants of VPS13C.
authors.affiliation: Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
authors.forename: Emiko
authors.initials: E
authors.lastname: Mizuno
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nakamura
authors.forename: Asumi
authors.initials: A
authors.lastname: Agemura
authors.forename: Akira
authors.initials: A
authors.lastname: Kusumoto
authors.forename: Mio
authors.initials: M
authors.lastname: Ichiba
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Kurano
authors.forename: Shinji
authors.initials: S
authors.lastname: Muroya
authors.forename: Akira
authors.initials: A
authors.lastname: Sano
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D020121:5' Untranslated Regions / Q000235:genetics*; D017398:Alternative Splicing; D000818:Animals; D001921:Brain / Q000378:metabolism*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D020869:Gene Expression Profiling; D008297:Male; D051379:Mice / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D018076:DNA, Complementary; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms; D012333:RNA, Messenger; D033921:Vesicular Transport Proteins; C497828:Vps13a protein, mouse