A comparative bioinformatic analysis of C9orf72

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Abstract

C9orf72 is associated with frontotemporal dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS), both of which are devastating neurodegenerative diseases. Findings suggest that an expanded hexanucleotide repeat in the non-coding region of theC9orf72gene is the most common cause of familial FTD and ALS. Despite considerable efforts being made towards discerning the possible disease-causing mechanism/s of this repeat expansion mutation, the biological function ofC9orf72remains unclear. Here, we present the first comprehensive genomic study onC9orf72gene. Analysis of the genomic level organization ofC9orf72across select species revealed architectural similarity of syntenic regions between human and mouse but a lack of conservation of the repeat-harboring intron 1 sequence. Information generated in this study provides a broad genomic perspective ofC9orf72which would form a basis for subsequent experimental approaches and facilitate future mechanistic and functional studies on this gene.

Original languageEnglish
Article numbere4391
Pages (from-to)e4391
JournalPeerJ
Volume6
Issue number2
DOIs
Publication statusPublished - 19 Feb 2018

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Keywords

  • Amyotrophic Lateral Sclerosis (ALS)
  • Bioinformatics
  • C9orf72
  • Frontotemporal Dementia (FTD)
  • Genome

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

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