OMIA 000202-9773 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Megaptera novaeangliae
In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , Japanese medaka , American mink , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake
Category: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2012
Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA), Acromelanism and as the Himalayan coat-colour pattern
History: As reported by Polanowski et al. (2012), "In 1991, an all white humpback whale (Megaptera novaeangliae) was observed near Byron Bay, New South Wales and has since been referred to in the media and scientific literature as “Migaloo.” This is the only documented occurrence of an anomalously white humpback whale (Forestell et al. 2001)."
Molecular basis: From analysis of "sequence variation at exon 1 of the tyrosinase gene in 66 humpback whale samples collected from the east coast of Australia, including an anomalously white humpback whale known as “Migaloo”", Polanowski et al. (2012) reported "a cytosine deletion that results in a premature stop codon in exon 1. The deletion truncates the tyrosinase protein including the putative catalytic domains that are essential for tyrosinase enzymatic activity. Migaloo was homozygous for this deletion, suggesting that the albino phenotype is a consequence of inactive tyrosinase caused by the frameshift in the tyrosinase gene."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||Megaptera novaeangliae||-||no genomic information (-..-)||TYR||Ensembl|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1027||Migaloo, the white whale||TYR||deletion, small (<=20)||Naturally occurring variant||"(264 del C) at codon 88"||2012||22140253|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2012||Polanowski, A.M., Robinson-Laverick, S.M., Paton, D., Jarman, S.N. :|
|Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae). J Hered 103:130-3, 2012. Pubmed reference: 22140253. DOI: 10.1093/jhered/esr108.|
|2001||Forestell, P.H., Paton, D.A., Hodda, P., Kaufman, G.D. :|
|Observations of a hypo-pigmented humpback whale (Megaptera novaeangliae) off east-coast Australia: 1991-2000 Memoirs of the Queensland Museum 47:437-450, 2001.|
- Created by Frank Nicholas on 07 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012
- Changed by Frank Nicholas on 11 Feb 2019