Genetic characterization and in vivo image analysis of novel zebrafish Danio rerio pigment mutants

Abstract

This study reports the isolation and characterization of a new type of transparent zebrafish Danio rerio mutant called pinky (pk), which has been visually isolated from a spontaneous mutation in a D. rerio colony. The pk larvae possess complex mutations affecting pigmentation because of missing pigment cells or a dramatic reduction in the chromatophore number. The pk displays a totally colourless phenotype and adult body transplant with no other obvious external morphological abnormalities, except for a red retina. The molecular analysis results in several candidate genes, hps1, ap3m2 and rabggta, implicated in the Hermansky-Pudlak syndrome (HPS) genes associated with HPS in pk. To demonstrate its applications of deep-tissue imaging, this study examines green fluorescent protein alone or with other fluorescent proteins to investigate their capability for using multilabelling purposes in live adult pk. In this study, pk is particularly valuable for tissue cell labelling and internal organogenesis studies because of its optical clarity in the adult body.

Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish

“…We also demonstrated that the function of hps1 is evolutionally conserved in vertebrates and accordingly established a fish model of HPS. Although previous studies have reported that hps1 knockdown in zebrafish causes a severe renal phenotype with pericardial effusion, yolk sac edema, and protein loss ( Schenk et al 2019 ), and have described pinky zebrafish mutant lacking pigmentation with mutations in some genes including hps1 ( Hsu et al 2013 ), our study is the first to report a genetic model fish without hps1 function. In addition, we showed that hps1 specifically affects the production of melanophores rather than other pigments ( Fig.…”

“…Although the genes were not identified, the zebrafish fade-out mutant has both ocular and blood clotting defects ( Bahadori et al 2006 ). In addition, the pinky zebrafish mutant has a loss of pigmentation and mutations in hps1 , ap3m2 , and rabggta ( Hsu et al 2013 ). The knockdown of hps genes in zebrafish has been reported to induce some HPS phenotypes, including renal protein loss ( Schenk et al 2019 ).…”