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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
RNA, Messenger
/
Exons
/
Enhancer Elements, Genetic
/
Alternative Splicing
/
Copper-Transporting ATPases
/
Gene Frequency
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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