The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development

Background Cohesinopathies is a term that refers to/covers rare genetic diseases caused by mutations in the cohesin complex proteins. The cohesin complex is a multiprotein complex that facilitates different aspects of cell division, gene transcription, DNA damage repair, and chromosome architecture....

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Bibliographic Details
Published in:Developmental dynamics 2022-08, Vol.251 (8), p.1357-1367
Main Authors: Kamel, Sarah M., Broekman, Sanne, Tessadori, Federico, Wijk, Erwin, Bakkers, Jeroen
Format: Article
Language:English
Subjects:
Animals
Cardiac function
Cell Cycle Proteins - physiology
Cell division
Centromere - metabolism
Chromatids
Chromatids - metabolism
Chromosomal Proteins, Non-Histone - genetics
Chromosomes
Cohesin
cohesinopathy
Cohesins
Cohesion
Danio rerio
DNA damage
DNA repair
Embryos
Food intake
Genetic disorders
heart defect
Heart rate
Lethality
Missense mutation
Mutants
Mutation
Organs
Phenotypes
Proteins
retinal defect
Sgo1
shugoshin
Zebrafish
Zebrafish - genetics
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Summary:Background Cohesinopathies is a term that refers to/covers rare genetic diseases caused by mutations in the cohesin complex proteins. The cohesin complex is a multiprotein complex that facilitates different aspects of cell division, gene transcription, DNA damage repair, and chromosome architecture. Shugoshin proteins prevent the cohesin complex from premature dissociation from chromatids during cell division. Patients with a homozygous missense mutation in SGO1, which encodes for Shugoshin1, have problems with normal pacing of the heart and gut. Results To study the role of shugoshin during embryo development, we mutated the zebrafish sgo1 gene. Homozygous sgo1 mutant embryos display various phenotypes related to different organs, including a reduced heart rate accompanied by reduced cardiac function. In addition, sgo1 mutants are vision‐impaired as a consequence of structurally defective and partially non‐functional photoreceptor cells. Furthermore, the sgo1 mutants display reduced food intake and early lethality. Conclusion We have generated a zebrafish model of Sgo1 that showed its importance during organ development and function. Key Findings Shugoshin 1 ((SGO1) is part of the cohesion complex and its gene is mutated in patients with CAID syndrome. Here we generated a zebrafish loss‐of‐function mutation for sgo1 and describe that these mutants have defects in cardiac function and eye development leading to early lethality.
ISSN:1058-8388
1097-0177
DOI:10.1002/dvdy.468