OMIA:000202-9773 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Megaptera novaeangliae (humpback whale)

In other species: Japanese medaka , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Megaptera novaeangliae - no genomic information (-..-) TYR Ensembl

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:000202-9773: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

Edit History


  • 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