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

Biochem Biophys Res Commun. 2007 Feb 23;353(4):902-7. doi: 10.1016/j.bbrc.2006.12.122. Epub 2006 Dec 22.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics*
  • 5' Untranslated Regions / genetics*
  • Alternative Splicing
  • Animals
  • Brain / metabolism*
  • Cloning, Molecular
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Gene Expression Profiling
  • Male
  • Mice / genetics*
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Protein Isoforms / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Transcription, Genetic
  • Vesicular Transport Proteins / genetics*

Substances

  • 3' Untranslated Regions
  • 5' Untranslated Regions
  • DNA, Complementary
  • Nerve Tissue Proteins
  • Protein Isoforms
  • RNA, Messenger
  • Vesicular Transport Proteins
  • Vps13a protein, mouse

Associated data

  • GENBANK/AB281675
  • GENBANK/AB281676
  • GENBANK/AB281677
  • GENBANK/AB281678
  • GENBANK/AB281679
  • GENBANK/AB281680
  • GENBANK/AB281681
  • GENBANK/AB281682
  • GENBANK/AB281683
  • GENBANK/AB281684
  • GENBANK/AB281685
  • GENBANK/AB281686
  • GENBANK/AB281687
  • GENBANK/AB281688
  • GENBANK/AB281689
  • GENBANK/AB281690
  • GENBANK/AB281691
  • GENBANK/AB281692
  • GENBANK/AB281693
  • GENBANK/AB281694
  • GENBANK/AB281695
  • GENBANK/AB281696
  • GENBANK/AB281697
  • GENBANK/AB281698
  • GENBANK/AB281699