ArticleMolecular biology and evolution2020
Mutations Upstream of the TBX5 and PITX1 Transcription Factor Genes Are Associated with Feathered Legs in the Domestic Chicken.
Article in Molecular biology and evolution, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 44 citations in OpenAlex.
- A ∼18 kb upstream deletion of H2AFY is associated with the feathered leg trait in Yanying chickens.Poultry science · 2026Article
- The Mottling Phenotype in Chickens Shows Genetic Heterogeneity and Is Caused by Mutations at the EDNRB2 Locus.Animal genetics · 2026Article
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- A review of genetic variation underlying chicken phenotypic diversity.Poultry science · 2025Review
- Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens.Poultry science · 2025Article
- A comprehensive study of Z-DNA density and its evolutionary implications in birds.BMC genomics · 2024Article
- Comprehensive evaluation and guidance of structural variation detection tools in chicken whole genome sequence data.BMC genomics · 2024Article
- Genetic diversity, demographic history, and selective signatures of Silkie chicken.BMC genomics · 2024Article
- A chromosome-level genome assembly of the Asian house martin implies potential genes associated with the feathered-foot trait.G3 (Bethesda, Md.) · 2024Article
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- New findings on the genetic basis of feathered legs in chickens: association of CUBN gene mutations with feathered-leg phenotype.Journal of animal science · 2024Article
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- An atlas of regulatory elements in chicken: A resource for chicken genetics and genomics.Science advances · 2023Article
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- Phenotypic Analysis of Growth and Morphological Traits in Miniature Breeds of Japanese Indigenous Chickens.The journal of poultry science · 2022Article
- A ROR2 coding variant is associated with craniofacial variation in domestic pigeons.Current biology : CB · 2021Article
- The Chicken Pan-Genome Reveals Gene Content Variation and a Promoter Region Deletion in IGF2BP1 Affecting Body Size.Molecular biology and evolution · 2021Article
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Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Feathered leg is a trait in domestic chickens that has undergone intense selection by fancy breeders. Previous studies have shown that two major loci controlling feathered leg are located on chromosomes 13 and 15. Here, we present genetic evidence for the identification of candidate causal mutations at these loci. This was accomplished by combining classical linkage mapping using an experimental cross segregating for feathered leg and high-resolution identical-by-descent mapping using whole-genome sequence data from 167 samples of chicken with or without feathered legs. The first predicted causal mutation is a single-base change located 25 kb upstream of the gene for the forelimb-specific transcription factor TBX5 on chromosome 15. The second is a 17.7-kb deletion located ∼200 kb upstream of the gene for the hindlimb-specific transcription factor PITX1 on chromosome 13. These mutations are predicted to activate TBX5 and repress PITX1 expression, respectively. The study reveals a remarkable convergence in the evolution of the feathered-leg phenotype in domestic chickens and domestic pigeons, as this phenotype is caused by noncoding mutations upstream of the same two genes. Furthermore, the PITX1 causal variants are large overlapping deletions, 17.7 kb in chicken and 44 kb in pigeons. The results of the present study are consistent with the previously proposed model for pigeon that feathered leg is caused by reduced PITX1 expression and ectopic expression of TBX5 in hindlimb buds resulting in a shift of limb identity from hindlimb to more forelimb-like identity.
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