Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome

Abstract More than 40 human diseases, mainly diseases affecting the central nervous system, are caused by expansion of unstable nucleotide repeats. Repeats sequences like (CAG)n present in different genes can be responsible for various system. An expanded hexanucleotide repeat (GGGGCC)n C9ORF72 gene has been characterized as most frequent genetic cause amyotrophic lateral sclerosis and frontotemporal lobar dementia. In this study, we performed a genome-wide analysis genome identified 74 containing precise repeat, with preference location exon 1 or intron 1, similar to gene. A total 36 these may interest candidates neurodevelopmental neurodegenerative based on their function.