A comparative bioinformatic analysis of C9orf72

Research output: Contribution to journalArticle

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.

LanguageEnglish
Pagese4391
JournalPeerJ
Volume6
DOIs
StatusPublished - 19 Feb 2018

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Neurodegenerative diseases
Bioinformatics
Computational Biology
bioinformatics
Introns
Conservation
dementia
Genes
genomics
Neurodegenerative Diseases
Dementia
neurodegenerative diseases
Mutation
introns
mutation
mice
Frontotemporal Dementia With Motor Neuron Disease
genes
amyotrophic lateral sclerosis

Keywords

  • Journal Article

Cite this

A comparative bioinformatic analysis of C9orf72. / Iyer, Shalini; Acharya, K Ravi; Subramanian, Vasanta.

In: PeerJ, Vol. 6, 19.02.2018, p. e4391.

Research output: Contribution to journalArticle

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