OMIA 000202-9773 : Coat colour, albinism in Megaptera novaeangliae

In other species: domestic cat , cattle , dog , rabbit , sheep , Sumatran tiger , western chorus frog , grass carp , golden hamster , gray short-tailed opossum , raccoon , meadow voles , water buffalo , Arizona pocket mouse , nutria , eastern chipmunk , rufous rat-kangaroo , hippopotamus , hares , northern pocket gopher , North American deer mouse , ass , Japanese medaka , rainbow trout , brown bear , American mink , grivet , goldfish , Campbell's desert hamster , axolotl , African clawed frog , turkey vulture , American black bear , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , Bornean orangutan , lion , Mongolian gerbil

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203100

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 all parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA)

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Migaloo, the white whale TYR deletion, small (<=20) "(264 del C) at codon 88" 2012 22140253

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