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Synonymous variants of the ATP7B gene may cause abnormal splicing of mRNA by affecting the exonic splicing enhancers / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1236-1240, 2020.
Artigo em Chinês | WPRIM | ID: wpr-879474
ABSTRACT
OBJECTIVE@#To explore the effect of rare synonymous variants of the ATP7B gene on the splicing of its precursor mRNA.@*METHODS@#A total of 248 rare synonymous variants with allelic frequency of T (p.L540L) and c.3888C>T (p.A1296A) variants could lead to abnormal splicing of the corresponding exons, resulting in complete skipping of exon 4 and 25% increase in the skipping of exon 18, respectively.@*CONCLUSION@#Synonymous variants may affect the splicing of precursor mRNA in various ways, particularly the destruction of ESE motif. This study confirmed that the c.1620C>T (p.L540L) and c.3888C>T (p.A1296A) variants can affect the mRNA splicing of the ATP7B gene, resulting in skipping of corresponding exons, which may provide a basis for genetic diagnosis and consultation of carriers.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: RNA Mensageiro / Éxons / Elementos Facilitadores Genéticos / Processamento Alternativo / ATPases Transportadoras de Cobre / Frequência do Gene Limite: Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2020 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: RNA Mensageiro / Éxons / Elementos Facilitadores Genéticos / Processamento Alternativo / ATPases Transportadoras de Cobre / Frequência do Gene Limite: Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2020 Tipo de documento: Artigo