KLI

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

Metadata Downloads
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
공개 및 라이선스
  • 공개 구분공개
파일 목록
  • 관련 파일이 존재하지 않습니다.

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.