Establishment and preliminary mechanism study of the zebrafish strain of KIAA0196: A candidate pathogenic gene for heart development.
10.11817/j.issn.1672-7347.2019.180360
- Author:
Haisong BU
1
;
Yifeng YANG
1
;
Xiaoyu LUO
2
;
Shijun HU
1
;
Xueyang GONG
1
;
Tianli ZHAO
1
Author Information
1. Department of Cardiovascular Surgery, Second Xiangya Hospital, Central South University, Changsha 410011, China.
2. College of Life Science, Hunan Normal University, Changsha 410081, China.
- Publication Type:Journal Article
- MeSH:
Animals;
DNA Copy Number Variations;
Heart;
Heart Defects, Congenital;
genetics;
Humans;
Myocytes, Cardiac;
Phenotype;
Proteins;
Zebrafish;
genetics;
Zebrafish Proteins;
genetics
- From:
Journal of Central South University(Medical Sciences)
2019;44(9):968-975
- CountryChina
- Language:Chinese
-
Abstract:
To explore the effects of KIAA0196 gene on cardiac development and the establishment of zebrafish strain.
Methods: Peripheral blood and gDNA from patients were extracted. Copy number variation analysis and target sequencing were conducted to screen candidate genes. The KIAA0196 knockout zebrafish was generated by CRISPR/Cas9 to detect whether KIAA0196 deficiency could affect cardiac development. Finally, the wild-type and mutant zebrafish were anatomized and histologically stained to observe the phenotype of heart defects.
Results: The KIAA0196 knockout zebrafish strain was successfully constructed using CRISPR/Cas9 technology. After 60 hours fertilization, microscopic examination of KIAA0196 knockout zebrafish (heterozygote + homozygote) showed pericardial effusion, cardiac compression and severely curly tail. Compared with wild-type zebrafish, the hearts of mutant KIAA0196 zebrafish had cardiac defects including smaller atrium and larger ventricle, and the myocardial cells were looser.
Conclusion: KIAA0196 gene plays an important regulatory role in the development of heart. It might be a candidate gene for congenital heart disease.