Bibliographic Details
| Title: |
Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene |
| Authors: |
Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao |
| Source: |
Human Genomics, Vol 18, Iss 1, Pp 1-6 (2024) |
| Publisher Information: |
BMC, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Medicine
LCC:Genetics |
| Subject Terms: |
PKHD1 gene, Intronic variant, Minigene, pre-mRNA splicing, Medicine, Genetics, QH426-470 |
| More Details: |
Abstract Background Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze intronic variants in PKHD1 at the mRNA level. Results The 12 candidate variants were introduced into the corresponding minigene and functionally assayed in HEK 293T and Hela cells. We identified 11 variants that induce splicing alterations, resulting in various consequences such as skipping of exons, intron retention and protein truncation. Conclusions This underlined the importance of mRNA-level assessment for genetic diagnostics in related genetic disorders. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1479-7364 |
| Relation: |
https://doaj.org/toc/1479-7364 |
| DOI: |
10.1186/s40246-024-00675-9 |
| Access URL: |
https://doaj.org/article/d4c46e355609496a986f5d68753b59b9 |
| Accession Number: |
edsdoj.4c46e355609496a986f5d68753b59b9 |
| Database: |
Directory of Open Access Journals |
