論文

査読有り 国際誌
2018年11月

Deletion of exons encoding carboxypeptidase domain of Nna1 results in Purkinje cell degeneration (pcd) phenotype.

Journal of neurochemistry
  • Li Zhou
  • M Ibrahim Hossain
  • Maya Yamazaki
  • Manabu Abe
  • Rie Natsume
  • Kohtaro Konno
  • Shun Kageyama
  • Masaaki Komatsu
  • Masahiko Watanabe
  • Kenji Sakimura
  • Hirohide Takebayashi
  • 全て表示

147
4
開始ページ
557
終了ページ
572
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/jnc.14591

Purkinje cell degeneration (pcd) was first identified in a spontaneous mouse mutant showing cerebellar ataxia. In addition to cerebellar Purkinje cells (PCs), retinal photoreceptors, mitral cells in the olfactory bulb, and a discrete subpopulation of thalamic neurons also degenerate in the mutant brains. The gene responsible for the pcd mutant is Nna1, also known as ATP/GTP binding protein 1 or cytosolic carboxypeptidase-like 1, which encodes a zinc carboxypeptidase protein. To investigate pathogenesis of the pcd mutation in detail, we generated a conditional Nna1 allele targeting the carboxypeptidase domain at C-terminus. After Cre recombination and heterozygous crossing, we generated Nna1 knockout (KO) mice and found that the Nna1 KO mice began to show cerebellar ataxia at postnatal day 20 (P20). Most PCs degenerated until 4-week-old, except lobule X. Activated microglia and astrocytes were also observed in the Nna1 KO cerebellum. In the mutant brain, the Nna1 mRNA level was dramatically reduced, suggesting that nonsense-mediated mRNA decay occurs in it. Since the Nna1 protein acts as a de-glutamatase on the C-terminus of α-tubulin and β-tubulin, increased polyglutamylated tubulin was detected in the Nna1 KO cerebellum. In addition, the endoplasmic reticulum stress marker, C/EBP homologous protein (CHOP), was up-regulated in the mutant PCs. We report the generation of a functional Nna1 conditional allele and possible mechanisms of PC death in the Nna1 KO in the cerebellum. OPEN PRACTICES: This article has received a badge for *Open Materials* because it provided all relevant information to reproduce the study in the manuscript. The complete Open Science Disclosure form for this article can be found at the end of the article. More information about the Open Practices badges can be found at https://cos.io/our-services/open-science-badges/.

リンク情報
DOI
https://doi.org/10.1111/jnc.14591
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/30225910
ID情報
  • DOI : 10.1111/jnc.14591
  • ISSN : 0022-3042
  • PubMed ID : 30225910

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