Brain-specific transcript variants of 5′ and 3′ ends of mouse VPS13A and VPS13C

Biochemical and Biophysical Research Communications

Volumn 353, Issue 4, 2007, Pages 902-907

  Mizuno, Emiko ^a   Nakamura, Masayuki ^a   Agemura, Asumi ^a   Kusumoto, Akira ^a   Ichiba, Mio ^a   Kurano, Yutaka ^a   Muroya, Shinji ^a   Sano, Akira ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Alternative transcript; Chorea acanthocytosis; Mouse VPS13A; Mouse VPS13C; Tissue specific

Indexed keywords

ACANTHOCYTOSIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN TISSUE; CHOREA; CONTROLLED STUDY; DNA FLANKING REGION; EXON; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENE TARGETING; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; INTRON; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TISSUE SPECIFICITY; TRANSCRIPTOMICS; TRANSGENIC MOUSE; VPS13A GENE; VPS13C GENE;

3' UNTRANSLATED REGIONS; 5' UNTRANSLATED REGIONS; ALTERNATIVE SPLICING; ANIMALS; BRAIN; CLONING, MOLECULAR; DNA, COMPLEMENTARY; GENE EXPRESSION PROFILING; MALE; MICE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC; VESICULAR TRANSPORT PROTEINS;

EID: 33846149287     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.12.122     Document Type: Article

References (9)

1. Rampoldi L., Dobson-Stone C., Rubio J.P., Danek A., Chalmers R.M., Wood N.W., Verellen C., Ferrer X., Malandrini A., Fabrizi G.M., Brown R., Vance J., Pericak-Vance M., Rudolf G., Carre S., Alonso E., Manfredi M., Nemeth A.H., and Monaco A.P. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat. Genet. 28 (2001) 119-120
2. Ueno S., Maruki Y., Nakamura M., Tomemori Y., Kamae K., Tanabe H., Yamashita Y., Matsuda S., Kaneko S., and Sano A. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat. Genet. 28 (2001) 121-122
3. Tomemori Y., Ichiba M., Kusumoto A., Mizuno E., Sato D., Muroya S., Nakamura M., Kawaguchi H., Yoshida H., Ueno S., Nakao K., Nakamura K., Aiba A., Katsuki M., and Sano A. A gene-targeted mouse model for chorea-acanthocytosis. J. Neurochem. 92 (2005) 759-766
4. Velayos-Baeza A., Vettori A., Copley R.R., Dobson-Stone C., and Monaco A.P. Analysis of the human VPS13 gene family. Genomics 84 (2004) 536-549
5. Y. Kurano, M. Nakamura, M. Ichiba, M. Matsuda, E. Mizuno, M. Kato, A. Agemura, S. Izumo, A. Sano, In vivo distribution and localization of chorein, Biochem. Biophys. Res. Cmmun. (2006), in press.
6. Palfi A., Kortvely E., Fekete E., Kovacs B., Varszegi S., and Gulya K. Differential calmodulin gene expression in the rodent brain. Life Sci. 70 (2002) 2829-2855
7. Decker C.J., and Parker R. Diversity of cytoplasmic functions for the 3′ untranslated region of eukaryotic transcripts. Curr. Opin. Cell Biol. 7 (1995) 386-392
8. Dobson-Stone C., Velayos-Baeza A., Jansen A., Andermann F., Dubeau F., Robert F., Summers A., Lang A.E., Chouinard S., Danek A., Andermann E., and Monaco A.P. Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics 6 (2005) 151-158
9. Kolehmainen J., Black G.C., Saarinen A., Chandler K., Clayton-Smith J., Traskelin A.L., Perveen R., Kivitie-Kallio S., Norio R., Warburg M., Fryns J.P., de la Chapelle A., and Lehesjoki A.E. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am. J. Hum. Genet. 72 (2003) 1359-1369