ArticleMolecular biology and evolution2021
Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buffaloes (Bubalus bubalis).
Article in Molecular biology and evolution, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 43 papers.
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43 citing papers in PubMed, 79 citations in OpenAlex.
- Identification of SNPs Associated With mRNA Expression Differences of the Complement Receptor Type 1-Like Gene in Landrace Weaned Piglets.Veterinary medicine and science · 2026Article
- Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- The ASIP Cys-98 Allele Is Not Associated With Black Coat Color in Water Buffaloes.Animal genetics · 2026Article
- Genomic analysis reveals convergent signatures of selection for milk traits in sheep and goats.Journal of animal science and biotechnology · 2026Article
- Insertion of an invading retrovirus regulates a novel color trait in swordtail fish.bioRxiv : the preprint server for biology · 2025Article
- Comparative Single-Cell Transcriptomic Landscape Reveals the Regulatory Mechanisms of Lactation during Selective Breeding in Asian Water Buffalo.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Development of a 5K Liquid-Phase Genome-Wide Breeding Chip for Xinglong Buffalo.Animals : an open access journal from MDPI · 2025Article
- A 14-bp motif in the KIT active promoter region is critical for melanin accumulation in yaks, mice, and humans.BMC biology · 2025Article
- Article
- Identification and Expression Patterns of Critical Genes Related to Coat Color in Cashmere Goats.Genes · 2025Article
- White coat color in Vietnamese native buffalo is attributed to the LINE1 insertion in ASIP.Tropical animal health and production · 2025Article
- Skin transcriptomic and selection signature analyses identifyFrontiers in genetics · 2025Article
- A Graph-based Goat Pangenome Reveals Structural Variations Involved in Domestication and Adaptation.Molecular biology and evolution · 2024Article
- Construction of the porcine genome mobile element variations and investigation of its role in population diversity and gene expression.Journal of animal science and biotechnology · 2024Article
- Understanding the skin blackening phenomenon in Youzhou Dark goats based on the histological characteristics of melanocytes.Journal of advanced veterinary and animal research · 2024Article
- Article
- The genome landscape of the Xinglong buffalo.BMC genomics · 2024Article
- Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes.BMC genomics · 2024Article
- Genome-wide association study provided insights into the polled phenotype and polled intersex syndrome (PIS) in goats.BMC genomics · 2024Article
- Development and verification of a 10K liquid chip for Hainan black goat based on genotyping by pinpoint sequencing of liquid captured targets.BMC genomic data · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 12 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Visible pigmentation phenotypes can be used to explore the regulation of gene expression and the evolution of coat color patterns in animals. Here, we performed whole-genome and RNA sequencing and applied genome-wide association study, comparative population genomics and biological experiments to show that the 2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3' truncated and containing only 5' UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5' UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe.
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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.