ArticlePLoS genetics2016
A Complex Structural Variation on Chromosome 27 Leads to the Ectopic Expression of HOXB8 and the Muffs and Beard Phenotype in Chickens.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 53 citations in OpenAlex.
- Opportunities and computational challenges in large-scale whole-genome sequencing data analysis.Journal of animal science · 2026Review
- The aberrant migration and differentiation of neural crest cells are associated with the production of HVP in bearded chicken.Functional & integrative genomics · 2025Article
- A review of genetic variation underlying chicken phenotypic diversity.Poultry science · 2025Review
- Mapping the regulatory genetic landscape of complex traits using a chicken advanced intercross line.Nature communications · 2025Article
- Skin regional specification and higher-orderScience advances · 2025Article
- A high-quality assembly revealing the PMEL gene for the unique plumage phenotype in Liancheng ducks.GigaScience · 2025Article
- Genetic diversity, demographic history, and selective signatures of Silkie chicken.BMC genomics · 2024Article
- Review
- Resequencing of a Pekin duck breeding population provides insights into the genomic response to short-term artificial selection.GigaScience · 2023Article
- In it for the long run: perspectives on exploiting long-read sequencing in livestock for population scale studies of structural variants.Genetics, selection, evolution : GSE · 2023Review
- Fourth Report on Chicken Genes and Chromosomes 2022.Cytogenetic and genome research · 2022Review
- Comprehensive analysis of structural variants in chickens using PacBio sequencing.Frontiers in genetics · 2022Article
- The Chicken Pan-Genome Reveals Gene Content Variation and a Promoter Region Deletion in IGF2BP1 Affecting Body Size.Molecular biology and evolution · 2021Article
- Repression precedes independent evolutionary gains of a highly specific gene expression pattern.Cell reports · 2021Article
- Shifts in growth, but not differentiation, foreshadow the formation of exaggerated forms under chicken domestication.Proceedings. Biological sciences · 2021Article
- Novel Genetic Rearrangements in Hepatitis B Virus: Complex Structural Variations and Structural Variation Polymorphisms.Viruses · 2021Review
- Genome-Wide Association Study Using Whole-Genome Sequencing Identifies a Genomic Region on Chromosome 6 Associated With Comb Traits in Nandan-Yao Chicken.Frontiers in genetics · 2021Article
- 863 genomes reveal the origin and domestication of chicken.Cell research · 2020Article
- Transcriptome analysis of feather follicles reveals candidate genes and pathways associated with pheomelanin pigmentation in chickens.Scientific reports · 2020Article
- Article
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Muffs and beard (Mb) is a phenotype in chickens where groups of elongated feathers gather from both sides of the face (muffs) and below the beak (beard). It is an autosomal, incomplete dominant phenotype encoded by the Muffs and beard (Mb) locus. Here we use genome-wide association (GWA) analysis, linkage analysis, Identity-by-Descent (IBD) mapping, array-CGH, genome re-sequencing and expression analysis to show that the Mb allele causing the Mb phenotype is a derived allele where a complex structural variation (SV) on GGA27 leads to an altered expression of the gene HOXB8. This Mb allele was shown to be completely associated with the Mb phenotype in nine other independent Mb chicken breeds. The Mb allele differs from the wild-type mb allele by three duplications, one in tandem and two that are translocated to that of the tandem repeat around 1.70 Mb on GGA27. The duplications contain total seven annotated genes and their expression was tested during distinct stages of Mb morphogenesis. A continuous high ectopic expression of HOXB8 was found in the facial skin of Mb chickens, strongly suggesting that HOXB8 directs this regional feather-development. In conclusion, our results provide an interesting example of how genomic structural rearrangements alter the regulation of genes leading to novel phenotypes. Further, it again illustrates the value of utilizing derived phenotypes in domestic animals to dissect the genetic basis of developmental traits, herein providing novel insights into the likely role of HOXB8 in feather development and differentiation.
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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.