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Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations

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Abstract
The PAX6 is essential for ocular morphogenesis and is known to be highly sensitive to changes in gene expression, where neither over- nor under-expression ensures normal ocular development. Two unrelated probands with classical aniridia who were previously considered “PAX6-negative”, were studied by whole-genome sequencing. Through the use of multiple in silico deep learning-based algorithms, we identified two novel putative causal mutations, c.-133_-132del in the 5′ untranslated region (5′-UTR) and c.-52 + 5G>A in an intron upstream of the PAX6 gene. The luciferase activity was significantly increased and VAX2 binding was disrupted with the former 5′-UTR variant compared with wild-type sequence, which resulted in a striking overexpression of PAX6. The minigene assay showed that the c.-52 + 5G>A mutation caused defective splicing, which resulted in the formation of truncated transcripts.
Author(s)
김구환변석호서윤종이준원임현택정한한진우
Issued Date
2021
Type
Article
Keyword
aniridiaPAX6ocular anomalyoverexpression(2020A02586)
DOI
10.1038/s10038-020-00829-2
URI
https://oak.ulsan.ac.kr/handle/2021.oak/7642
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_proquest_miscellaneous_2442599966&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,Aberrant%20expression%20of%20PAX6%20gene%20associated%20with%20classical%20aniridia:%20identification%20and%20functional%20characterization%20of%20novel%20noncoding%20mutations&offset=0&pcAvailability=true
Publisher
JOURNAL OF HUMAN GENETICS
Location
영국
Language
영어
ISSN
1434-5161
Citation Volume
66
Citation Number
3
Citation Start Page
333
Citation End Page
338
Appears in Collections:
Medicine > Medicine
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