ArticleBMC genetics2012
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.
Article in BMC genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 41 citations in OpenAlex.
- A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish.Pigment cell & melanoma research · 2026Article
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- The Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage.Pigment cell & melanoma research · 2025Article
- White coat color in Vietnamese native buffalo is attributed to the LINE1 insertion in ASIP.Tropical animal health and production · 2025Article
- Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes.BMC genomics · 2024Article
- Review
- Chromosome-level reference genome for North American bison (Bison bison) and variant database aids in identifying albino mutation.G3 (Bethesda, Md.) · 2023Article
- Leucoderma in Buffaloes (Animals : an open access journal from MDPI · 2023Article
- A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius).PloS one · 2022Article
- Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buffaloes (Bubalus bubalis).Molecular biology and evolution · 2021Article
- Nonhuman Primate Model of Oculocutaneous Albinism withResearch (Washington, D.C.) · 2020Article
- Article
- Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.Genetics, selection, evolution : GSE · 2017Article
- A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).BMC genetics · 2017Article
- Association of Tyrosinase (TYR) and Tyrosinase-related Protein 1 (TYRP1) with Melanic Plumage Color in Korean Quails (Coturnix coturnix).Asian-Australasian journal of animal sciences · 2013Article
- Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species.
resultsClinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477.
conclusionThis premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.
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