ArticlePLoS genetics2011
A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers.
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Who cites it
90 citing papers in PubMed, 191 citations in OpenAlex.
- Tandem duplication upstream ofiScience · 2026Article
- A regulatory 24-bp insertion at the BCO2 gene region is associated with yellow skin in chickens.Genetics, selection, evolution : GSE · 2026Article
- A cis-regulatory mutation in the EDN3 promoter drives coordinated formation of comb and skin color in Anyi gray chickens.Poultry science · 2026Article
- Visceral Peritoneum Hyperpigmentation in Chickens Is Associated withAnimals : an open access journal from MDPI · 2025Article
- Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats.BMC genomics · 2025Article
- Identification of key candidate genes and marker metabolites of melanin synthesis in black-bone chicken.BMC genomics · 2025Article
- FRRS1L variants and ferriheme overload drive hyperpigmentation and systemic Iron overload in lanping black bone sheep.Cell & bioscience · 2025Article
- Article
- The genomic structure of complex chromosomal rearrangement at the Fm locus in black-bone Silkie chicken.Communications biology · 2025Article
- Population genomic analysis identifies the complex structural variation at the fibromelanosis (FM) locus in chicken.Scientific reports · 2025Article
- Melanisation in Salmonid Skeletal Muscle: A Review.Journal of fish diseases · 2025Review
- Common Ancestry of the Id Locus: Chromosomal Rearrangement and Polygenic Possibilities.Journal of molecular evolution · 2025Article
- Comprehensive evaluation and guidance of structural variation detection tools in chicken whole genome sequence data.BMC genomics · 2024Article
- Revealing the complete mtDNA genome sequence of Cemani chicken (Gallus gallus) by using Nanopore sequencing analysis.Animal bioscience · 2024Article
- PGC-based cryobanking, regeneration through germline chimera mating, and CRISPR/Cas9-mediated TYRP1 modification in indigenous Chinese chickens.Communications biology · 2024Article
- Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries).BMC genomics · 2024Article
- Characterization of the Coding Sequence of theAnimals : an open access journal from MDPI · 2024Article
- Genetic diversity, demographic history, and selective signatures of Silkie chicken.BMC genomics · 2024Article
- Endothelin-3 Suppresses Luteinizing Hormone Receptor Expression by Regulating the cAMP-PKA Pathway in Hen Granulosa Cells.Current issues in molecular biology · 2024Article
- A comparative review on Ayam Cemani chicken - A comparison with the most common chicken species in terms of nutritional values, LCA, price and consumer acceptance.Tropical animal health and production · 2024Review
30 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dermal hyperpigmentation or Fibromelanosis (FM) is one of the few examples of skin pigmentation phenotypes in the chicken, where most other pigmentation variants influence feather color and patterning. The Silkie chicken is the most widespread and well-studied breed displaying this phenotype. The presence of the dominant FM allele results in extensive pigmentation of the dermal layer of skin and the majority of internal connective tissue. Here we identify the causal mutation of FM as an inverted duplication and junction of two genomic regions separated by more than 400 kb in wild-type individuals. One of these duplicated regions contains endothelin 3 (EDN3), a gene with a known role in promoting melanoblast proliferation. We show that EDN3 expression is increased in the developing Silkie embryo during the time in which melanoblasts are migrating, and elevated levels of expression are maintained in the adult skin tissue. We have examined four different chicken breeds from both Asia and Europe displaying dermal hyperpigmentation and conclude that the same structural variant underlies this phenotype in all chicken breeds. This complex genomic rearrangement causing a specific monogenic trait in the chicken illustrates how novel mutations with major phenotypic effects have been reused during breed formation in domestic animals.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.