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

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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.

Supplementary Information

The online version contains supplementary material available at 10.1186/s13041-021-00766-x.

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Most cited references 29

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The PROSITE database

Nicolas Hulo, Amos Bairoch, Virginie Bulliard … (2006)

The PROSITE database consists of a large collection of biologically meaningful signatures that are described as patterns or profiles. Each signature is linked to a documentation that provides useful biological information on the protein family, domain or functional site identified by the signature. The PROSITE database is now complemented by a series of rules that can give more precise information about specific residues. During the last 2 years, the documentation and the ScanProsite web pages were redesigned to add more functionalities. The latest version of PROSITE (release 19.11 of September 27, 2005) contains 1329 patterns and 552 profile entries. Over the past 2 years more than 200 domains have been added, and now 52% of UniProtKB/Swiss-Prot entries (release 48.1 of September 27, 2005) have a cross-reference to a PROSITE entry. The database is accessible at .

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Consensus paper: pathological role of the cerebellum in autism.

S Hossein Fatemi, Kimberly A Aldinger, Paul Ashwood … (2012)

There has been significant advancement in various aspects of scientific knowledge concerning the role of cerebellum in the etiopathogenesis of autism. In the current consensus paper, we will observe the diversity of opinions regarding the involvement of this important site in the pathology of autism. Recent emergent findings in literature related to cerebellar involvement in autism are discussed, including: cerebellar pathology, cerebellar imaging and symptom expression in autism, cerebellar genetics, cerebellar immune function, oxidative stress and mitochondrial dysfunction, GABAergic and glutamatergic systems, cholinergic, dopaminergic, serotonergic, and oxytocin-related changes in autism, motor control and cognitive deficits, cerebellar coordination of movements and cognition, gene-environment interactions, therapeutics in autism, and relevant animal models of autism. Points of consensus include presence of abnormal cerebellar anatomy, abnormal neurotransmitter systems, oxidative stress, cerebellar motor and cognitive deficits, and neuroinflammation in subjects with autism. Undefined areas or areas requiring further investigation include lack of treatment options for core symptoms of autism, vermal hypoplasia, and other vermal abnormalities as a consistent feature of autism, mechanisms underlying cerebellar contributions to cognition, and unknown mechanisms underlying neuroinflammation.

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pEF-BOS, a powerful mammalian expression vector.

S Mizushima, S Nagata (1990)

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Author and article information

Contributors

Tetsushi Sadakata:

ORCID: http://orcid.org/0000-0003-0276-4162

sadakata-1024@umin.ac.jp

Journal

Journal ID (nlm-ta): Mol Brain

Journal ID (iso-abbrev): Mol Brain

Title: Molecular Brain

Publisher: BioMed Central (London )

ISSN (Electronic): 1756-6606

Publication date (Electronic): 12 March 2021

Publication date PMC-release: 12 March 2021

Publication date Collection: 2021

Volume: 14

Electronic Location Identifier: 52

Affiliations

[1 ]GRID grid.256642.1, ISNI 0000 0000 9269 4097, Education and Research Support Center, , Gunma University Graduate School of Medicine, ; 3-39-22 Showa-machi, Maebashi, Gunma 371-8511 Japan

[2 ]GRID grid.256642.1, ISNI 0000 0000 9269 4097, Laboratory of Genome Science, , Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, ; 3-39-15 Showa-machi, Maebashi, 371-8512 Japan

[3 ]GRID grid.143643.7, ISNI 0000 0001 0660 6861, Department of Applied Biological Science, Faculty of Science and Technology, , Tokyo University of Science, ; 2641 Yamazaki, Noda, Chiba 278-8510 Japan

[4 ]GRID grid.410785.f, ISNI 0000 0001 0659 6325, Department of Environmental Health, School of Pharmacy, , Tokyo University of Pharmacy and Life Sciences, ; 1432-1 Horinouchi, Hachioji, Tokyo 192-0392 Japan

[5 ]GRID grid.256642.1, ISNI 0000 0000 9269 4097, Department of Neurophysiology and Neural Repair, , Gunma University Graduate School of Medicine, ; Maebashi, Gunma 371-8511 Japan

[6 ]GRID grid.256642.1, ISNI 0000 0000 9269 4097, Department of Molecular and Cellular Neurobiology, , Gunma University Graduate School of Medicine, ; 3-39-22 Showa-machi, Maebashi, Gunma 371-8511 Japan

[7 ]GRID grid.5254.6, ISNI 0000 0001 0674 042X, Center for Translational Neuromedicine, Faculty of Medical and Health Sciences, , University of Copenhagen, ; Blegdamsvej 3B, 2200 Copenhagen N, Denmark

Author information

Tetsushi Sadakata http://orcid.org/0000-0003-0276-4162

Article

Publisher ID: 766

DOI: 10.1186/s13041-021-00766-x

PMC ID: 7953787

PubMed ID: 33712038

SO-VID: 6fce26ae-d703-4725-bb23-9bdbf576a929

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 18 January 2021

Date accepted : 3 March 2021

Funding

Funded by: FundRef http://dx.doi.org/10.13039/100009619, Japan Agency for Medical Research and Development;

Award ID: JP20am0101120

Award Recipient : Tetsushi Sadakata

Funded by: FundRef http://dx.doi.org/10.13039/501100003837, Ichiro Kanehara Foundation for the Promotion of Medical Sciences and Medical Care;

Funded by: FundRef http://dx.doi.org/10.13039/501100004632, Mother and Child Health Foundation;

Funded by: FundRef http://dx.doi.org/10.13039/501100001691, Japan Society for the Promotion of Science;

Award ID: JP19K06900

Award Recipient : Tetsushi Sadakata

Custom metadata

ScienceOpen disciplines: Neurosciences

Keywords: phyhipl,phyhip,dbsnp,hapmap project,cerebellum,purkinje cell

Data availability:

ScienceOpen disciplines: Neurosciences

Keywords: phyhipl, phyhip, dbsnp, hapmap project, cerebellum, purkinje cell

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

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Abstract

Supplementary Information

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Recursive Rule based Visual Categorization

Most cited references 29

The PROSITE database

Consensus paper: pathological role of the cerebellum in autism.

pEF-BOS, a powerful mammalian expression vector.

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Contributors

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