Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss.

Autor:	Liu, Xianlin, Wen, Jie, Liu, Xuezhong, Chen, Anhai, Li, Sijun, Liu, Jing, Sun, Jie, Gong, Wei, Kang, Xiaoming, Feng, Zhili, He, Chufeng, Mei, Lingyun, Ling, Jie, Feng, Yong
Předmět:	RECESSIVE genes GENETIC regulation HEARING disorders GENE expression CYTOPLASMIC filaments RNA sequencing
Zdroj:	PLoS ONE; 9/14/2023, Vol. 18 Issue 9, p1-18, 18p
Abstrakt:	The ELMOD3 gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. However, the etiology has yet to be completely elucidated. In this study, we generated a patient-derived iPSC line carrying ELMOD3 c.512A>G mutation. In addition, the patient-derived iPSC line was corrected by CRISPR/Cas9 genome editing system. Then we applied RNA sequencing profiling to compare the patient-derived iPSC line with different controls, respectively (the healthy sibling-derived iPSCs and the CRISPR/Cas9 corrected iPSCs). Functional enrichment and PPI network analysis revealed that differentially expressed genes (DEGs) were enriched in the gene ontology, such as sensory epithelial development, intermediate filament cytoskeleton organization, and the regulation of ion transmembrane transport. Our current work provided a new tool for studying how disruption of ELMOD3 mechanistically drives hearing loss. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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