Evidence map›Paper›PMID 39521997›Full record

ArticleHuman genomics2024

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene.

Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang and 3 more

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Article in Human genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Yiyin ZhangDepartment of Nephrology, The Affiliated Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
Ran ZhangDepartment of Nephrology, The Affiliated Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
Xiaomeng ShiDepartment of Nephrology, The Affiliated Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
Xuyan LiuDepartment of Nephrology, The Affiliated Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
Changying LiDepartment of Nephrology, The Affiliated Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
Yan ZhangSchool of Clinical Medicine, Shandong Second Medical University, Weifang, 261000, China.
Zhi WangSchool of Clinical Medicine, Shandong Second Medical University, Weifang, 261000, China.
Dan QiaoDepartment of Nephrology, Dalian Medical University, Dalian, 116000, China.
Fengjiao PanDepartment of Nephrology, The Affiliated Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
Bingying ZhangSchool of Clinical Medicine, Shandong Second Medical University, Weifang, 261000, China.
Ning XuDepartment of Nephrology, The Affiliated Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
Bingzi DongDepartment of Endocrinology, The Affiliated Hospital of Qingdao University, No.16 Jangsu Road, Qingdao, 266003, China. dongbingzi@hotmail.com.
Leping ShaoDepartment of Nephrology, The First Affiliated Hospital of Xiamen University, Xiamen, China. lepingshao@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutosomal 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.

resultsThe 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.

conclusionsThis underlined the importance of mRNA-level assessment for genetic diagnostics in related genetic disorders.

Indexed as

IntronsReceptors, Cell SurfaceAlternative SplicingExonsHEK293 CellsHeLa CellsHumansPolycystic Kidney, Autosomal RecessiveRNA, MessengerRNA SplicingPKHD1 protein, humanReceptors, Cell SurfaceRNA, MessengerIntronic variantMinigenePKHD1 genepre-mRNA splicing

Identifiers

PMID39521997
PMCPMC11550526

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.