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

Melanocortins regulate pigmentation via melanocortin receptors (MCRs), which are highly conserved across vertebrates. Unlike other MCRs, the melanocortin 2 receptor (MC2R) is exclusively activated by ACTH; however, its role in pigmentation remains unclear. Using CRISPR/Cas9-generated mc2r knockout zebrafish, we demonstrated that the loss of mc2r in zebrafish results in impaired interrenal steroidogenesis and pronounced hyperpigmentation characterized by an increased number of melanophores and xanthophores while preserving normal patterning. Transcriptomic analyses revealed the upregulation of genes involved in melanosome formation, melanin synthesis, lipid metabolism, and carotenoid accumulation. These findings demonstrate that, in addition to controlling steroidogenesis, mc2r plays a key role in pigment cell development and metabolic regulation.

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Journal
Scientific Reports
Published
2026-02-04
DOI
https://doi.org/10.1038/s41598-026-37998-7
Primary Topic
melanin and skin pigmentation
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Lluís Tort, M. V. Alvarado, Josep Rotllant, Laura Guerrero-Peña et al.
Scientific Reports
melanin and skin pigmentation
article

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

Lluís Tort, M. V. Alvarado, Josep Rotllant, Laura Guerrero-Peña, Luis Méndez-Martínez, José Antonio Vázquez, Priyanka Soni, Carolina Costas-Prado, Elisa Barreiro-Docío, José Miguel Cerdá-Reverter
article en

Abstract

Melanocortins regulate pigmentation via melanocortin receptors (MCRs), which are highly conserved across vertebrates. Unlike other MCRs, the melanocortin 2 receptor (MC2R) is exclusively activated by ACTH; however, its role in pigmentation remains unclear. Using CRISPR/Cas9-generated mc2r knockout zebrafish, we demonstrated that the loss of mc2r in zebrafish results in impaired interrenal steroidogenesis and pronounced hyperpigmentation characterized by an increased number of melanophores and xanthophores while preserving normal patterning. Transcriptomic analyses revealed the upregulation of genes involved in melanosome formation, melanin synthesis, lipid metabolism, and carotenoid accumulation. These findings demonstrate that, in addition to controlling steroidogenesis, mc2r plays a key role in pigment cell development and metabolic regulation.

Scientific ReportsVol. 16(1)
University of Southern California (US), Universitat Autònoma de Barcelona (ES), Statewide California Earthquake Center (US), Instituto de Acuicultura Torre de la Sal (ES), Instituto de Investigacións Mariñas (ES)
Consejo Superior de Investigaciones Científicas, European Regional Development Fund, Agencia Estatal de Investigación
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