# Alteration of chromatin states perturb the transcription regulation of gene during hydronephrosis

**Authors:** Xiao-Hui Wang, Shu-Feng Zhang, Hai-Ying Wu, Jian Gao, Lin Wang, Yao Yin, Xuhui Wang

PMC · DOI: 10.3389/fgene.2025.1396073 · Frontiers in Genetics · 2025-02-17

## TL;DR

This study explores how changes in chromatin states affect gene regulation in hydronephrosis, identifying key genes and epigenetic mechanisms involved in the disease.

## Contribution

The study identifies OTUD6B as a key gene regulated by chromatin loops and highlights the role of epigenetics in hydronephrosis.

## Key findings

- 860 differentially expressed genes and 2429 dynamic chromatin open regions were identified in hydronephrosis tissue.
- OTUD6B overexpression is regulated by a distal regulatory element through chromatin looping.
- Epigenetic mechanisms are confirmed to play a significant role in gene expression during hydronephrosis.

## Abstract

Gene expression is abnormal in disease compared to normal tissue same as the regulatory elements. Regulatory element binding with transcription factors managed transcription of gene, which usually require chromatin accessible.

To reveal potential epigenetic mechanism during hydronephrosis, we first used RNA-seq to finger out the disfunction genes during hydronephrosis, then combined with ATAC-seq, and BS-seq to reveal the related disfunction regulatory elements.

Finally, we find that 860 differentially genes and 2429 dynamic chromatin open regions between normal and hydronephrosis tissue. Though, most of disfunction genes and regulatory elements significantly enriched in chronic kidney disease GO term, only small part of regulatory element target genes overlapped with truly disfunction genes. And we also find out an important gene OTUD6B, which overexpression in disease tissue is manipulated by distal regulatory element through chromatin loop, and confirm the importance of epigenetic mechanism in disease.

In summary, we found many hub genes and potential therapeutic target during hydronephrosis, and also confirmed that epigenetic play important role in gene expression and relevant in disease progress.

## Linked entities

- **Genes:** OTUD6B (OTU deubiquitinase 6B) [NCBI Gene 51633]
- **Diseases:** hydronephrosis (MONDO:0005510), chronic kidney disease (MONDO:0005300)

## Full-text entities

- **Genes:** OTUD6B (OTU deubiquitinase 6B) [NCBI Gene 51633] {aka CGI-77, DUBA-5, DUBA5, IDDFSDA}
- **Diseases:** chronic kidney disease (MESH:D051436), hydronephrosis (MESH:D006869)

## Full text

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## Figures

7 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11873066/full.md

## References

63 references — full list in the complete paper: https://tomesphere.com/paper/PMC11873066/full.md

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Source: https://tomesphere.com/paper/PMC11873066