The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice

Research output: Contribution to journalJournal articleResearchpeer-review

  • Hisako Sugimoto
  • Takuro Horii
  • Jun Na Hirota
  • Yoshitake Sano
  • Yo Shinoda
  • Ayumu Konno
  • Hirokazu Hirai
  • Yasuki Ishizaki
  • Hirase, Hajime
  • Izuho Hatada
  • Teiichi Furuichi
  • Tetsushi Sadakata

The HapMap Project is a major international research effort to construct a resource to facilitate the discovery of relationships between human genetic variations and health and disease. The Ser19Stop single nucleotide polymorphism (SNP) of human phytanoyl-CoA hydroxylase-interacting protein-like (PHYHIPL) gene was detected in HapMap project and registered in the dbSNP. PHYHIPL gene expression is altered in global ischemia and glioblastoma multiforme. However, the function of PHYHIPL is unknown. We generated PHYHIPL Ser19Stop knock-in mice and found that PHYHIPL impacts the morphology of cerebellar Purkinje cells (PCs), the innervation of climbing fibers to PCs, the inhibitory inputs to PCs from molecular layer interneurons, and motor learning ability. Thus, the Ser19Stop SNP of the PHYHIPL gene may be associated with cerebellum-related diseases.

Original languageEnglish
Article number52
JournalMolecular Brain
Volume14
Issue number1
Number of pages9
ISSN1756-6606
DOIs
Publication statusPublished - 2021

    Research areas

  • Cerebellum, dbSNP, HapMap Project, PHYHIP, PHYHIPL, Purkinje cell

Number of downloads are based on statistics from Google Scholar and www.ku.dk


No data available

ID: 258823476