The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice
| Autor: | Yasuki Ishizaki, Hajime Hirase, Ayumu Konno, Hisako Sugimoto, Hirokazu Hirai, Yoshitake Sano, Tetsushi Sadakata, Izuho Hatada, Yo Shinoda, Jun Na Hirota, Teiichi Furuichi, Takuro Horii |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Cerebellum dbSNP Purkinje cell Single-nucleotide polymorphism Mice Transgenic HapMap Project Biology Motor Activity PHYHIP Polymorphism Single Nucleotide lcsh:RC346-429 03 medical and health sciences Cellular and Molecular Neuroscience Mice Purkinje Cells 0302 clinical medicine Nerve Fibers Interneurons Gene expression medicine SNP Animals Humans Learning Amino Acid Sequence Gene Knock-In Techniques International HapMap Project PHYHIPL Molecular Biology Gene Cell Shape lcsh:Neurology. Diseases of the nervous system Genetics Sequence Homology Amino Acid Research Intracellular Signaling Peptides and Proteins Mice Inbred C57BL 030104 developmental biology medicine.anatomical_structure Rotarod Performance Test Codon Terminator Female CRISPR-Cas Systems Sequence Alignment 030217 neurology & neurosurgery |
| Zdroj: | Sugimoto, H, Horii, T, Hirota, J N, Sano, Y, Shinoda, Y, Konno, A, Hirai, H, Ishizaki, Y, Hirase, H, Hatada, I, Furuichi, T & Sadakata, T 2021, ' The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice ', Molecular Brain, vol. 14, no. 1, 52 . https://doi.org/10.1186/s13041-021-00766-x Molecular Brain, Vol 14, Iss 1, Pp 1-9 (2021) Molecular Brain |
| DOI: | 10.1186/s13041-021-00766-x |
| Popis: | 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. Supplementary Information The online version contains supplementary material available at 10.1186/s13041-021-00766-x. |
| Databáze: | OpenAIRE |
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