OMIA 000202-9557 : Coat colour, albinism in Papio hamadryas

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

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2020

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: Koga et al. (2020): "An infant hamadryas baboon exhibiting an albino phenotype —white body hair and red eyes— was born to parents with wild-type body color. Pigmentation on some parts of its body surfaced during childhood and progressed with age. This baboon in adulthood has gray hair on parts of its body, such as the tail, distal portion of the legs, and face, with the remainder being white. This pigmentation pattern resembles that of the Siamese cat and the Himalayan variants of the mouse and the mink."

Molecular basis: Koga et al. (2020) "sequenced all the five exons of the tyrosinase (TYR) gene of this albino baboon" and identified a missense mutation "p.(Ala365Thr) . . . [as] a likely candidate for the cause of the albino phenotype in this baboon."

Associated gene:

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

Variants

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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.

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
Siamese coat colour pattern TYR missense p.(Ala365Thr) ENSPANT00000015629.2:c.1093G>A; A0A096MRE4:p.(Ala365Thr) [Koga et al., 2020] 2020 32053406

Reference


2020 Koga, A., Hisakawa, C., Yoshizawa, M. :
Baboon bearing resemblance in pigmentation pattern to Siamese cat carries a missense mutation in the tyrosinase gene. Genome :, 2020. Pubmed reference: 32053406. DOI: 10.1139/gen-2020-0003.

Edit History


  • Created by Frank Nicholas on 18 Feb 2020
  • Changed by Frank Nicholas on 18 Feb 2020