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

Authors
 Junwon Lee  ;  Yoonjong Suh  ;  Han Jeong  ;  Gu-Hwan Kim  ;  Suk Ho Byeon  ;  Jinu Han  ;  Hyun Taek Lim 
Citation
 JOURNAL OF HUMAN GENETICS, Vol.66(3) : 333-338, 2021-03 
Journal Title
 JOURNAL OF HUMAN GENETICS 
ISSN
 1434-5161 
Issue Date
2021-03
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.
Full Text
https://www.nature.com/articles/s10038-020-00829-2
DOI
10.1038/s10038-020-00829-2
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Byeon, Suk Ho(변석호) ORCID logo https://orcid.org/0000-0001-8101-0830
Lee, Jun Won(이준원) ORCID logo https://orcid.org/0000-0003-0543-7132
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/182248
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