Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome.
Neurobiol Aging
; 97: 148.e1-148.e7, 2021 01.
Article
en En
| MEDLINE
| ID: mdl-32843153
ABSTRACT
More than 40 human diseases, mainly diseases affecting the central nervous system, are caused by the expansion of unstable nucleotide repeats. Repeats of sequences like (CAG)n present in different genes can be responsible for various diseases of the central nervous system. An expanded hexanucleotide repeat (GGGGCC)n in the C9ORF72 gene has been characterized as the most frequent genetic cause of amyotrophic lateral sclerosis and frontotemporal lobar dementia. In this study, we performed a genome-wide analysis in the human genome and identified 74 genes containing this precise hexanucleotide repeat, with a preference for a location in exon 1 or intron 1, similar to the C9ORF72 gene. A total of 36 of these 74 genes may be of interest as candidates in neurodevelopmental or neurodegenerative diseases, based on their function.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Expresión Génica
/
Genoma Humano
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Sistema Nervioso Central
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Enfermedades Neurodegenerativas
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Expansión de las Repeticiones de ADN
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Estudios de Asociación Genética
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Proteína C9orf72
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Neurobiol Aging
Año:
2021
Tipo del documento:
Article