Investigation of the pathogenesis of <scp>ADAR1</scp> gene in dyschromatosis symmetrica hereditaria-Reference-Cited by-同舟云学术

Investigation of the pathogenesis of ADAR1 gene in dyschromatosis symmetrica hereditaria

Published:2024-02 Issue:2 Volume:33 Page:
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Experimental Dermatology

Author:

Zhang Jia¹^ORCID,Jiang Chengyi¹,Wang Zhen¹,Fang Biqing²,He Jin³,Li Ming¹

Affiliation:

1. Department of Dermatology Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine Shanghai China

2. Department of Dermatology QuanZhou Women's and Children's Hospital Quanzhou China

3. Department of Pediatric Orthopaedics, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University Shanghai China

Abstract

AbstractThe pathogenesis of dyschromatosis symmetrica hereditaria (DSH) has not been well defined. In this study, we sought to investigate the influence of the ADAR1 gene on DSH both in vitro and in vivo. Morpholino knockdown of adar1 in zebrafish produced phenotypes characterized by polarity changes, and abnormal migration and distribution of melanocytes. Differential expression of C‐KIT and distinct patterns of apoptosis between hyperpigmented and hypopigmented areas in DSH patient were detected by means of immunohistochemical methods and TUNEL assays, respectively. This study revealed that adar1 knockdown in a zebrafish model resulted in abnormal migration and changes in the cell polarity of melanocytes, and provided novel insight into the mechanism of DSH pathogenesis.

Funder

National Natural Science Foundation of China

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/exd.15031

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2. Stress-induced Apoptosis Associated with Null Mutation of ADAR1 RNA Editing Deaminase Gene

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4. Bcl2 Regulation by the Melanocyte Master Regulator Mitf Modulates Lineage Survival and Melanoma Cell Viability

5. Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease