A comparative bioinformatic analysis of C9orf72

PeerJ
Shalini IyerVasanta Subramanian

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 the C9orf72 gene 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 of C9orf72 remains unclear. Here, we present the first comprehensive genomic study on C9orf72 gene. Analysis of the genomic level organization of C9orf72 across 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 of C9orf72 which would form a basis for subsequent experimental approaches and facilitate future mechanistic and functional studies on this gene.

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Citations

Oct 28, 2019·Acta Neuropathologica Communications·Shangxi XiaoJanice Robertson
Jul 15, 2020·International Journal of Molecular Sciences·Taejoon KimIm-Soon Lee
Jan 23, 2021·International Journal of Molecular Sciences·Sophie LayalleLaurent Soustelle
Oct 25, 2020·Biomedicines·Gabrielle FortierShunmoogum A Patten
Jul 30, 2021·Cellular and Molecular Life Sciences : CMLS·Francesco LiguoriCinzia Volonté

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Methods Mentioned

BETA
GTPases
phylogenetic profiles
Immunoprecipitation
GTPase

Software Mentioned

Common
Matcher
EMBOSS Needle
TreeDyn
DiAlign TF
CAGEseq
Ensembl Compara
UCSC genome browser
Blast
ClustalW2

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