The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice
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...
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| Format: | Article |
| Language: | English |
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BMC
2021-03-01
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| Series: | Molecular Brain |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13041-021-00766-x |
| _version_ | 1819158308378902528 |
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| author | Hisako Sugimoto Takuro Horii Jun-Na Hirota Yoshitake Sano Yo Shinoda Ayumu Konno Hirokazu Hirai Yasuki Ishizaki Hajime Hirase Izuho Hatada Teiichi Furuichi Tetsushi Sadakata |
| author_facet | Hisako Sugimoto Takuro Horii Jun-Na Hirota Yoshitake Sano Yo Shinoda Ayumu Konno Hirokazu Hirai Yasuki Ishizaki Hajime Hirase Izuho Hatada Teiichi Furuichi Tetsushi Sadakata |
| author_sort | Hisako Sugimoto |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T16:22:36Z |
| format | Article |
| id | doaj.art-a3dea4b032d6409185ddd1ede8e42850 |
| institution | Directory Open Access Journal |
| issn | 1756-6606 |
| language | English |
| last_indexed | 2024-12-22T16:22:36Z |
| publishDate | 2021-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Brain |
| spelling | doaj.art-a3dea4b032d6409185ddd1ede8e428502022-12-21T18:20:13ZengBMCMolecular Brain1756-66062021-03-011411910.1186/s13041-021-00766-xThe Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in miceHisako Sugimoto0Takuro Horii1Jun-Na Hirota2Yoshitake Sano3Yo Shinoda4Ayumu Konno5Hirokazu Hirai6Yasuki Ishizaki7Hajime Hirase8Izuho Hatada9Teiichi Furuichi10Tetsushi Sadakata11Education and Research Support Center, Gunma University Graduate School of MedicineLaboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma UniversityDepartment of Applied Biological Science, Faculty of Science and Technology, Tokyo University of ScienceDepartment of Applied Biological Science, Faculty of Science and Technology, Tokyo University of ScienceDepartment of Environmental Health, School of Pharmacy, Tokyo University of Pharmacy and Life SciencesDepartment of Neurophysiology and Neural Repair, Gunma University Graduate School of MedicineDepartment of Neurophysiology and Neural Repair, Gunma University Graduate School of MedicineDepartment of Molecular and Cellular Neurobiology, Gunma University Graduate School of MedicineCenter for Translational Neuromedicine, Faculty of Medical and Health Sciences, University of CopenhagenLaboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma UniversityDepartment of Applied Biological Science, Faculty of Science and Technology, Tokyo University of ScienceEducation and Research Support Center, Gunma University Graduate School of MedicineAbstract 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.https://doi.org/10.1186/s13041-021-00766-xPHYHIPLPHYHIPdbSNPHapMap ProjectCerebellumPurkinje cell |
| spellingShingle | Hisako Sugimoto Takuro Horii Jun-Na Hirota Yoshitake Sano Yo Shinoda Ayumu Konno Hirokazu Hirai Yasuki Ishizaki Hajime Hirase Izuho Hatada Teiichi Furuichi Tetsushi Sadakata The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice Molecular Brain PHYHIPL PHYHIP dbSNP HapMap Project Cerebellum Purkinje cell |
| title | The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice |
| title_full | The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice |
| title_fullStr | The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice |
| title_full_unstemmed | The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice |
| title_short | The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice |
| title_sort | ser19stop single nucleotide polymorphism snp of human phyhipl affects the cerebellum in mice |
| topic | PHYHIPL PHYHIP dbSNP HapMap Project Cerebellum Purkinje cell |
| url | https://doi.org/10.1186/s13041-021-00766-x |
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