melanin and skin pigmentation

GTP cyclohydrolase II (gch2) and axanthism in ball pythons: a new vertebrate model for pterin-based pigmentation

The paper identifies a premature stop codon in the gch2 gene in axanthic ball pythons, linking it to pterin-based pigmentation and establishing ball pythons as a vertebrate model for studying axanthism.

Multiple pathways to red carotenoid coloration: House finches(Haemorhous mexicanus) do not use CYP2J19 to produce red plumage

This study shows house finches do not use CYP2J19/BDH1L to produce red plumage, suggesting an alternative pathway for 3-OH-echinenone synthesis.

The small molecule ML233 is a direct inhibitor of tyrosinase function

This study identifies ML233 as a potent and safe tyrosinase inhibitor that reduces melanin production in zebrafish and murine melanoma cells without significant toxicity.

Genetic basis of the evolution of vertical bars in clownfishes

This study investigates the genetic basis of vertical bar evolution in clownfish by analyzing changes in selective pressure on pigmentation-related genes.

Agouti and BMP signaling drive a naturally occurring fate conversion of melanophores to leucophores in zebrafish

The paper identifies BMP and Agouti signaling pathways that drive the transdifferentiation of melanophores to leucophores in zebrafish fins.

Gut Microbiome-Driven Metabolites Influence Skin Pigmentation in TYRP1 Mutant Oujiang Color Common Carp

The paper identifies gut microbiome-driven metabolites influencing skin pigmentation in TYRP1 mutant common carp through genetic and metabolic pathway analysis.

GENOTYPIC SPECTRUM OF ALBINISM IN MALI

This study analyzes the genotypic spectrum of albinism in 23 Malian patients, identifying four novel variants and highlighting differences from other African populations.

Developmental plasticity and variability in the formation of egg-spots, a pigmentation ornament in the cichlid Astatotilapia calliptera

The paper investigates egg-spot formation in Astatotilapia calliptera, showing plasticity in initiation timing and cell-autonomous interactions between iridophores and xanthophores.

The genomic architecture of a continuous color polymorphism in the European barn owl (Tyto alba)

The paper identifies two new genomic regions associated with a continuous color polymorphism in European barn owls, explaining most of the color variation along with a known mutation.

ViCEKb: Vitiligo-linked Chemical Exposome Knowledgebase

ViCEKb compiles 113 unique chemical triggers of vitiligo from literature, standardizes chemical data, and highlights their biological impacts and regulatory status.

An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses

An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon

The paper identifies a locus, EDNRB2, associated with piebalding patterns in domestic pigeons, showing how genetic variation at this locus generates diverse pigment patterns.

Unsuspected consequences of synonymous and missense variants in can be detected in blood cell RNA samples of patients with albinism

The paper shows that blood cell RNA analysis can detect the effects of OCA2 variants on exon skipping and mRNA levels, helping to reclassify variants of unknown significance as pathogenic.

Mutation in SLC45A2 leads to loss of melanin in parrot feathers

The paper identifies mutations in SLC45A2 causing loss of melanin in parrot feathers, contributing to blue structural coloration.

A unique single nucleotide polymorphism in Agouti Signalling Protein (ASIP) gene changes coat colour of Sri Lankan Leopard (Panthera pardus kotiya) to dark black

The paper identifies a unique single nucleotide polymorphism in the ASIP gene causing melanism in Sri Lankan leopards, suggesting a species-specific mutation contributing to coat color variation.

Pax3 and Pax7 function in combination with Mitf to generate melanophores and xanthophores in medaka and zebrafish

This study shows that Pax3 and Pax7 work with Mitf to control melanophore and xanthophore development in medaka and zebrafish, revealing a conserved but complex regulatory network.

A frameshift variant in the melanophilin gene is associated with loss of pigment from shed skin in ball pythons (Python regius)

Native American Ancestry and Pigmentation Allele Contributions to Skin Color in a Caribbean Population

The paper investigates genetic contributions to skin color variation in a Caribbean population with Native American, African, and European ancestry, identifying specific alleles and ancestry effects on pigmentation.

Stripes and loss of color in ball pythons (Python regius) are associated with variants affecting endothelin signaling

The paper identifies variants in EDNRB1 associated with color pattern changes in ball pythons, linking them to loss of endothelin signaling and chromatophore loss.

Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition

The paper identifies TBX3 as a key regulator in pheomelanogenesis and melanoma predisposition through scRNA-seq analysis of RHC mouse models.

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

The paper investigates the combined effect of TYR and OCA2 variants on albinism risk and finds synergistic effects increasing diagnosis odds.

Whole exome-sequencing of vitiligo lesions indicate lower burden of somatic variations: implications in risk for non-melanoma skin cancers

The paper uses whole exome sequencing to show lower somatic mutation burden in vitiligo lesions, linked to reduced non-melanoma skin cancer risk through enhanced DNA repair.

A multifunctional Wnt regulator underlies the evolution of coat pattern in African striped mice

The paper identifies Sfrp2 as a multifunctional regulator controlling coat pattern and color in African striped mice through transcriptomics, modeling, and gene editing.

A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius)

The paper identifies genetic variants associated with three color morphs in ball pythons using pet samples from the community.

Lrig1 and Wnt dependent niches dictate segregation of resident immune cells and melanocytes in murine tail epidermis

The paper shows that Lrig1 and Wnt-Lef1 signaling in keratinocytes control the spatial segregation of melanocytes and immune cells in murine tail epidermis.

The contribution of common regulatory and protein-coding TYR variants in the genetic architecture of albinism

The paper investigates the role of common regulatory and protein-coding TYR variants in albinism, finding a high-frequency promoter variant modulates penetrance of a missense change and a haplotype associated with increased albinism risk.

Investigating the genetic architecture of eye colour in a Canadian cohort

This study identifies genetic loci associated with eye colour in a Canadian European cohort, highlighting the HERC2/OCA2 region and other genes, and explores their molecular mechanisms.

TFAP2 paralogs facilitate chromatin access for MITF at pigmentation genes but inhibit expression of cell-cell adhesion genes independently of MITF

The paper shows TFAP2 paralogs enhance MITF's ability to activate pigmentation genes but independently repress cell adhesion genes, affecting melanocyte and melanoma cell behavior.

ASIP promoter variants predict sesame coat color in Shiba Inu dogs

The paper identifies ASIP promoter variants that determine sesame coat color in Shiba Inu dogs and demonstrates incomplete dominance between these alleles.

CRISPR knockouts of pmela and pmelb engineered a golden tilapia by regulating relative pigment cell abundance

This study mutates pmela and pmelb in tilapia to show their roles in pigmentation, finding pmela has a greater impact on body color and RPE pigmentation than pmelb.