ArticleGenome research2008
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sheep.
Article in Genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 132 papers.
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Who cites it
132 citing papers in PubMed, 323 citations in OpenAlex.
- Article
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- FRRS1L variants and ferriheme overload drive hyperpigmentation and systemic Iron overload in lanping black bone sheep.Cell & bioscience · 2025Article
- Comparison of Transcriptome Differences in Scales of Two Closely Related Snake Species (Animals : an open access journal from MDPI · 2025Article
- Genetic advancements and future directions in ruminant livestock breeding: from reference genomes to multiomics innovations.Science China. Life sciences · 2025Review
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- A preliminary study on physiological dynamism of various serum cardiac biomarkers in apparently healthy Sipli sheep of Pakistan.Open veterinary journal · 2025Article
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- Understanding the skin blackening phenomenon in Youzhou Dark goats based on the histological characteristics of melanocytes.Journal of advanced veterinary and animal research · 2024Article
- Telomere-to-telomere genome assembly of a male goat reveals variants associated with cashmere traits.Nature communications · 2024Article
- A comprehensive map of copy number variations in dromedary camels based on whole genome sequence data.Scientific reports · 2024Article
- Article
- A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation.Nature genetics · 2024Article
72 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Agouti signaling protein (ASIP) functions to regulate pigmentation in mice, while its role in many other animals and in humans has not been fully determined. In this study, we identify a 190-kb tandem duplication encompassing the ovine ASIP and AHCY coding regions and the ITCH promoter region as the genetic cause of white coat color of dominant white/tan (A(Wt)) agouti sheep. The duplication 5' breakpoint is located upstream of the ASIP coding sequence. Ubiquitous expression of a second copy of the ASIP coding sequence regulated by a duplicated copy of the nearby ITCH promoter causes the white sheep phenotype. A single copy ASIP gene with a silenced ASIP promoter occurs in recessive black sheep. In contrast, a single copy functional wild-type (A(+)) ASIP is responsible for the ancient Barbary sheep coat color phenotype. The gene duplication was facilitated by homologous recombination between two non-LTR SINE sequences flanking the duplicated segment. This is the first sheep trait attributable to gene duplication and shows nonallelic homologous recombination and gene conversion events at the ovine ASIP locus could have an important role in the evolution of sheep pigmentation.
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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.