Abundance of clinical variants in exons included in multiple transcripts.
Hum Genomics
; 12(1): 33, 2018 06 28.
Article
em En
| MEDLINE
| ID: mdl-29954439
ABSTRACT
Previous studies showed that the magnitude of selection pressure in constitutive exons is higher than that in alternatively spliced exons. The intensity of selection was also shown to be depended on the inclusion level of exons the number of transcripts that include an exon. Here, we examined how the difference in selection pressure influences the patterns of clinical variants in human exons. Our analysis revealed a positive relationship between exon inclusion level and the abundance of pathogenic variants. The proportion of pathogenic variants in the exons that are included in > 10 transcripts was 6.8 times higher than those in the exons included in only one transcript. This suggests that the mutations occurring in the exons included in multiple transcripts are more deleterious than those present in the exons included in one transcript. The findings of this study highlight that the exon inclusion level could be used to predict the mutations associated with diseases.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Seleção Genética
/
Transcrição Gênica
/
RNA Mensageiro
/
Processamento Alternativo
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Hum Genomics
Assunto da revista:
GENETICA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Austrália