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

Authors
  • Sugimoto, Hisako1
  • Horii, Takuro2
  • Hirota, Jun-Na3
  • Sano, Yoshitake3
  • Shinoda, Yo4
  • Konno, Ayumu5
  • Hirai, Hirokazu5
  • Ishizaki, Yasuki1
  • Hirase, Hajime6
  • Hatada, Izuho2
  • Furuichi, Teiichi3
  • Sadakata, Tetsushi1
  • 1 Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511, Japan , Maebashi (Japan)
  • 2 Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, 3-39-15 Showa-machi, Maebashi, 371-8512, Japan , Maebashi (Japan)
  • 3 Tokyo University of Science, 2641 Yamazaki, Noda, Chiba, 278-8510, Japan , Noda (Japan)
  • 4 Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachioji, Tokyo, 192-0392, Japan , Hachioji (Japan)
  • 5 Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan , Maebashi (Japan)
  • 6 University of Copenhagen, Blegdamsvej 3B, Copenhagen N, 2200, Denmark , Copenhagen N (Denmark)
Type
Published Article
Journal
Molecular Brain
Publisher
BioMed Central
Publication Date
Mar 12, 2021
Volume
14
Issue
1
Identifiers
DOI: 10.1186/s13041-021-00766-x
Source
Springer Nature
Keywords
License
Green

Abstract

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.

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