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Kitano S, Kino Y, Yamamoto Y, et al. Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72. J Cent Nerv Syst Dis. 2015;7:15-26doi: 10.4137/JCNSD.S24317.
Kitano, S., Kino, Y., Yamamoto, Y., Takitani, M., Miyoshi, J., Ishida, T., Saito, Y., Arima, K., & Satoh, J. (2015). Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72. Journal of central nervous system disease, 715-26. https://doi.org/10.4137/JCNSD.S24317
Kitano, Shouta, et al. "Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72." Journal of central nervous system disease vol. 7 (2015): 15-26. doi: https://doi.org/10.4137/JCNSD.S24317
Kitano S, Kino Y, Yamamoto Y, Takitani M, Miyoshi J, Ishida T, Saito Y, Arima K, Satoh J. Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72. J Cent Nerv Syst Dis. 2015 Jun 08;7:15-26. doi: 10.4137/JCNSD.S24317. eCollection 2015. PMID: 26106267; PMCID: PMC4467204.
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J Cent Nerv Syst Dis. 2015 Jun 08;7:15-26. doi: 10.4137/JCNSD.S24317. eCollection 2015.

Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.

Journal of central nervous system disease

Shouta Kitano, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima, Jun-Ichi Satoh

Affiliations

  1. Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Kiyose, Tokyo, Japan.
  2. Department of Pathology and Laboratory Medicine, Kohnodai Hospital, NCGM, Ichikawa, Chiba, Japan.
  3. Department of Laboratory Medicine, National Center Hospital, NCNP, Kodaira, Tokyo, Japan.
  4. Department of Psychiatry, Komoro Kogen Hospital, Komoro, Nagano, Japan.

PMID: 26106267 PMCID: PMC4467204 DOI: 10.4137/JCNSD.S24317

Abstract

BACKGROUND: Expanded GGGGCC hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 (C9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Formation of nuclear RNA foci, accumulation of repeat-associated non-ATG-translated dipeptide-repeat proteins, and haploinsufficiency of C9orf72 are proposed for pathological mechanisms of C9ALS/FTD. However, at present, the physiological function of C9orf72 remains largely unknown.

METHODS: By searching on a bioinformatics database named COXPRESdb composed of the comprehensive gene coexpression data, we studied potential C9orf72 interactors.

RESULTS: We identified the ATP/GTP binding protein 1 (AGTPBP1) gene alternatively named NNA1 encoding a cytosolic carboxypeptidase whose mutation is causative of the degeneration of Purkinje cells and motor neurons as the most significant gene coexpressed with C9orf72. We verified coexpression and interaction of AGTPBP1 and C9orf72 in transfected cells by immunoprecipitation and in neurons of the human brain by double-labeling immunohistochemistry. Furthermore, we found a positive correlation between AGTPBP1 and C9orf72 mRNA expression levels in the set of 21 human brains examined.

CONCLUSIONS: These results suggest that AGTPBP1 serves as a C9orf72 interacting partner that plays a role in the regulation of neuronal function in a coordinated manner within the central nervous system.

Keywords: AGTPBP1; C9orf72; CCP1; COXPRESdb; NNA1; amyotrophic lateral sclerosis; bioinformatics; coexpression; frontotemporal dementia

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