Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Loss-of-function mutations in the melanocortin-2-receptor (mc2r) lead to skin hyperpigmentation in teleost fish

ABSTRACT: Melanocortins regulate pigmentation via melanocortin receptors (MCRs), which exhibit high conservation across zebrafish and humans. MC2R is distinctive among melanocortin receptors in that it is activated exclusively by ACTH and requires Mrap1 for optimal functionality, in contrast to other receptors that possess the capacity to bind diverse ligands. Although the melanocortin 1 receptor (MC1R) is well characterised for its role in pigmentation, the function of MC2R remains largely unknown. This study examines the influence of MC2R on pigmentation by generating MC2R knockout zebrafish using the CRISPR/Cas9 system. The results demonstrated that the mc2rKO mutants exhibited pronounced hyperpigmentation, characterised by an elevated number of melanophores and xanthophores, while preserving the distinctive striped pattern and dorsoventral countershading. Gene expression analyses show an increase in the expression of genes involved in melanosome synthesis and melanin production, contributing to a darker phenotype, as well as genes associated with lipid metabolism and carotenoid accumulation, which result in enhanced yellow coloration. These results suggest that mc2r plays a role in modulating the development, distribution and metabolic activity of pigment cells.

ORGANISM(S): Danio rerio

PROVIDER: GSE292242 | GEO | 2025/09/02

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Expression data from zebrafish pigment cells at adult stage

Project description:In zebrafish, there are interactions between black pigment cells (melanophores) and yellow pigment cells (xanthophores) for pigment-pattern formation. However, the detailed molecular mechanism of these interactions remains largely unknown. We used microarray for identifying the molecular basis of these interactions by comparing gene expression between melanophores and xanthophores. Zebrafish pigment cells were collected from adult-fish fins by centrifugal separation or using cell sorter. melanophores vs. xanthophores

2013-05-30 | E-GEOD-42129 | biostudies-arrayexpress

Loss-of-function mutations in the melanocortin-2-receptor (mc2r) lead to skin hyperpigmentation in teleost fish

Project description:Loss-of-function mutations in the melanocortin-2-receptor (mc2r) lead to skin hyperpigmentation in teleost fish

| PRJNA1237720 | ENA

Expression data from zebrafish pigment cells at adult stage

2013-05-30 | GSE42129 | GEO

SASH1 S519N variant links skin hyperpigmentation and premature hair graying to dysfunction of melanocyte lineage

Project description:A better understanding of human melanocyte and melanocyte stem cell (McSC) biology is essential for treating melanocyte-related diseases. This study employed an inherited pigmentation disorder carrying the SASH1S519N variant in a Hispanic family to investigate the SASH1 function in melanocyte lineage and the underlying mechanism for this disorder. We used a multidisciplinary approach, including clinical exams, human cell assays, yeast two-hybrid screening, and biochemical techniques. Results linked early hair graying to the SASH1S519N variant, a previously unrecognized clinical phenotype in hyperpigmentation disorders. We identified SASH1 as a novel regulator in McSC maintenance and discovered that TNKS2 is crucial for SASH1’s role in vitro. Additionally, the S519N variant is located in one of multiple tankyrase binding motifs and alters the binding kinetics and affinity of the interaction. In summary, this disorder showcases accelerated aging in human McSC, linking both gain and loss of pigmentation to McSC dysfunction in the same individuals. The findings offer new insights into the roles of SASH1 and TNKS2 in McSC maintenance and the molecular mechanisms of pigmentation disorders. We propose that a comprehensive clinical evaluation of patients with skin disorders should include an assessment and history of hair pigmentation loss.

2024-06-17 | GSE266293 | GEO

Danio rerio

Project description:Gene expression analysis of zebrafish fin melanophores and xanthophores.

| PRJDB8340 | ENA

Tfap2b specifies an embryonic melanocyte stem cell population that retains adult multi-fate potential

Project description:Melanocytes, our pigment producing cells, originate from neural crest-derived progenitors during embryogenesis and from multiple stem cell niches in adult tissues. Although pigmentation traits are known risk-factors for melanoma, we lack lineage markers with which to identify melanocyte stem cell populations and study their function. Here, by combining live-imaging, scRNA-seq and chemical-genetics in zebrafish, we identify the transcription factor Tfap2b as a functional marker for the melanocyte stem cell (MSC) population that resides at the dorsal root ganglia site. Tfap2b is required for only a few late-stage embryonic melanocytes, and instead is essential for MSC-dependent melanocyte regeneration. Our lineage-tracing data reveal that tfap2b-expressing MSCs have multi-fate potential, and are the cell-of-origin for a discrete number of embryonic melanocytes, large patches of adult melanocytes, and two other pigment cell types; iridophores and xanthophores. Hence, Tfap2b confers MSC identity, and thereby distinguishes MSCs from other neural crest and pigment cell lineages.

2022-01-11 | GSE178364 | GEO

MC1R stabilize the actin cytoskeleton

Project description:Amplification of the Melanocortin-1 Receptor in Nephrotic Syndrome Renders a Good Target for Podocyte Cytoskeleton Stabilization During the last years, several reports have been presented of beneficial effects of ACTH in patients with nephrotic syndrome. Among the known ACTH receptors, the melanocortin-1 receptor (MC1R) has been suggested as the mediator of the ACTH renoprotective effect with the mechanism of action resulting in stabilization of the actin cytoskeleton in podocytes. To understand how melanocortin receptors are regulated in nephrotic syndrome and how they are involved in restoration of filtration barrier function, melanocortin receptor expression was evaluated in patients and in a rat model of nephrotic syndrome in combination with cell culture analysis. Phosphoproteomic mass spectrometry was applied and identified MC1R pathways confirmed using biochemical analysis. We found that glomerular MC1R expression was increased in nephrotic syndrome, both in humans and in a rat model. A MC1R agonist protected podocytes from protamine sulfate induced stress fiber loss with the top ranked phoshoproteomic MC1R activated pathway beeing actin cytoskeleton signaling. Actin stabilization through the MC1R consisted of ERK1/2 dependent phosphorylation and inactivation of EGFR signaling with stabilization of synaptopodin and stress fibers in podocytes. These results further explain how patients with nephrotic syndrome show responsiveness to ACTH treatment by depressing EGFR signaling through activation of the MC1R receptor and as a consequence restore filtration barrier function by stabilizing the podocyte actin cytoskeleton.

2019-11-12 | PXD009198 | Pride

Development and genetics of red coloration in the zebrafish relative Danio albolineatus

Project description:Animal pigment patterns play important roles in behavior and, in many species, red coloration serves as an honest signal of individual quality in mate choice. Among Danio fishes, some species develop erythrophores, pigment cells that contain red ketocarotenoids, whereas other species, like zebrafish (D. rerio) only have yellow xanthophores. Here, we use pearl danio (D. albolineatus) to assess the developmental origin of erythrophores and their mechanisms of differentiation. We show that erythrophores in the fin of D. albolineatus share a common progenitor with xanthophores and maintain plasticity in cell fate even after differentiation. We further identify the predominant ketocarotenoids that confer red coloration to erythrophores and use reverse genetics to pinpoint genes required for the differentiation and maintenance of these cells. Our analyses are a first step towards defining the mechanisms underlying the development of erythrophore-mediated red coloration in Danio and reveal striking parallels with the mechanism of red coloration in birds.

2021-05-20 | GSE174713 | GEO

Transcriptional and Behavioral Responses of Zebrafish Larvae to Microcystin-LR Exposure

Project description:Microcystin-LR (MC-LR), the most toxic member of microcystin family, inhibits protein phosphatase PP2A, triggers oxidative stress and induces hepatotoxicity. Gene expression profiling of MC-LR treated larvae using DNA microarray analysis revealed effects in the retinal visual cycle and pigmentation synthesis pathways that have not been previously associated with MC-LR. Liver-related genes were also differentially expressed. The microarray data were confirmed by quantitative real-time PCR. Our findings provide new evidence that microcystin-LR exposure of zebrafish larvae modulates the retinal visual cycle and pigmentation synthesis pathways and ultimately alter larval zebrafish behavior

2017-02-16 | GSE73739 | GEO

Specialized Molecular Pathways Drive the Formation of Light-Scattering Assemblies in Leucophores

Project description:Pigmentation plays a vital role in the survival of organisms, supporting functions such as camouflage, communication, and mate attraction. In vertebrates, these functions are mediated by specialized pigment cells known as chromatophores of which, uric acid crystal-forming leucophores remain the least understood, with little known about their molecular mechanisms. A key question in pigment cell biology is whether different crystal chemistries require distinct molecular pathways, or whether similar cellular processes drive the formation of diverse crystals. This study was designed to unravel the uncharacterized process of uric acid crystallization in leucophores and compare them to guanine crystal formation in iridophores and pterin formation in xanthophores. The results of our transcriptomic, ultrastructural, and metabolomic analyses, demonstrate that leucophores share molecular pathways with iridophores, particularly those connected to organelle organization and purine metabolism, but express discrete genes involved in uric acid biosynthesis and storage. Additionally, leucophores share intracellular trafficking and pterin biosynthesis genes with xanthophores, suggesting universally conserved processes. Ultrastructural studies reveal star-like fibrous structures in leucosomes, which likely serve as scaffolds for unique one-dimensional uric acid assemblies that radiate from the core and act as efficient light scatterers. These findings provide new insights into leucophore cell biology and the specialized mechanisms driving molecular crystalline assembly, and reveal that while some cellular processes are conserved, the specific chemistry of each crystal type drives the evolution of distinct molecular pathways.

2025-05-07 | GSE280941 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data