melanin and skin pigmentation

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

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 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.

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.

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.

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

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.

The paper identifies a genome-wide epistatic network underlying continuous color variation in rabbit body extremities, revealing gene interactions and new genes involved in pigmentation.

The paper identifies genes and genomic regions responsible for PPIX production in the uterus of Japanese quail, linking them to eggshell pigmentation.

The paper analyzes pigmentation phenotypes in UK Biobank using DISSECT to identify new candidate genes and explore sex differences and geographic patterns in hair and skin color.

The paper identifies Tfap2b as a marker for melanocyte stem cells in zebrafish, showing their multi-fate potential and role in melanocyte regeneration.

The paper shows that activating β-catenin in Schwann-cell precursors during a specific developmental window promotes melanocyte specification over Schwann cell fate.

The paper identifies keratinocyte subpopulations in stable vitiligo skin that drive disease persistence through CXCL signaling and altered metabolism.

This study identifies a non-canonical melanogenic pathway induced by IFNG that regulates tyrosinase post-translationally, independent of MITF.

The paper identifies the developmental genetics of color pattern establishment in cats by analyzing fetal skin and gene expression, revealing the role of Dkk4 in stripe-like epidermal thickness alterations.

This study identifies a mutation in SLC2A11B as the genetic basis for pearl iris color in domestic pigeons, linking it to domestication and evolutionary changes in avian pigmentation.

This study identifies two genomic loci associated with iris color variation in domestic pigeons, linking iris and plumage color traits and highlighting the role of gene duplicates in color evolution.

This study identifies the developmental origin and genetic mechanisms of red coloration in D. albolineatus, showing parallels with bird coloration mechanisms.

The paper identifies regulatory modules controlling dog color patterns and shows their evolutionary origin in extinct canids.

This paper identifies rs117132860 as a functional variant at 7p21.1 that regulates AHR expression in response to UVB, contributing to melanoma risk and tanning ability.

The paper identifies a mutation in leopard geckos causing white coloration and tumors, linking it to a tumor suppressor gene.

This study shows that differential growth, not initial pigment cell distribution, drives zebrafish stripe pattern formation and explains key developmental features.

This study identifies Rab3a as a regulator of melanin exocytosis in melanocytes stimulated by keratinocyte-conditioned medium, revealing a distinct pathway from Rab11b-dependent exocytosis.

The paper identifies pigment-dependent angiogenic factors and their regulation by MC1R signaling across human tissues.

The paper identifies conserved color regions in Estrildid finches that explain diverse plumage patterns through molecular pre-patterning.

The paper shows zebrafish stripe patterns arise from in situ differentiation of iridophore crystallotypes, not migration, with distinct transcriptomic and physiological states in stripe and interstripe regions.

This study shows that morphological background adaptation occurs during early development and depends on ghr1 in fish.

This study compares DHA-induced skin color changes with natural tanning using colorimetric measurements and identifies factors predicting the outcome of DHA application.

This study investigates DNA methylation as a mediator between pigmentation genes, traits, and skin cancer using GWAS and epigenetic data from European populations.

The paper identifies a nonsense mutation in TFEC as the likely cause of the piebald phenotype in ball pythons using whole-genome sequencing and population genetics.