OMIA 001821-9593 : Coat colour, albinism, oculocutaneous type IV in Gorilla gorilla

In other species: Japanese medaka , dog , cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606574

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

History: As summarised by Prado-Martinez et al. (2013), "The only known albino gorilla named Snowflake . . . was a male wild-born Western lowland gorilla (Gorilla gorilla gorilla) from Equatorial Guinea. He was brought to the Barcelona Zoo in 1966 at young age . . . , where he gained popularity worldwide."

Mapping: Prado-Martinez et al. (2013) whole-genome sequenced the albino Snowflake at 18.7x coverage, from a blood sample taken after he had died. By comparing this sequence with the reference human genome, they identified 20 non-synonymous mutations in Snowflake in comparative candidate genes for albinism.

Molecular basis: Martínez-Arias et al. (2000) could find no mutation in the tyrosinase gene of the albino gorilla Snowflake, who had zero tyrinase activity.

By comparing Snowflake's 20 candidate mutations (see Mapping section) with genome sequence from two other gorillas, Prado-Martinez et al. (2013) discovered that just one of these mutations (a missense mutation in SLC45A2; chr5_33944794_C/G; pGly518Arg) was unique to Snowflake. Sequencing this gene in Snowflake and his offspring confirmed this mutation as causal.

Clinical features: As summarised by Prado-Martinez et al. (2013): "Snowflake presented the typical properties of albinism as seen in humans: white hair, pink skin, blue eyes, reduced visual acuity and photophobia. Given his lack of pigmentation and thus reduced protection from UV light, the aged albino gorilla developed squamous-cell carcinoma that led to his euthanasia in 2003."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC45A2 solute carrier family 45, member 2 Gorilla gorilla 17 NC_018441.2 (61306958..61345035) SLC45A2 Homologene, Ensembl, NCBI gene

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 required column headers

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
Coat colour, albinism, oculocutaneous type IV SLC45A2 missense gorGor3.1 17 g.59753498G>C c.1552G>C p.G518R 2013 23721540 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2013 Prado-Martinez, J., Hernando-Herraez, I., Lorente-Galdos, B., Dabad, M., Ramirez, O., Baeza-Delgado, C., Morcillo-Suarez, C., Alkan, C., Hormozdiari, F., Raineri, E., Estellé, J., Fernandez-Callejo, M., Valles, M., Ritscher, L., Schöneberg, T., de la Calle-Mustienes, E., Casillas, S., Rubio-Acero, R., Melé, M., Engelken, J., Caceres, M., Gomez-Skarmeta, J.L., Gut, M., Bertranpetit, J., Gut, I.G., Abello, T., Eichler, E.E., Mingarro, I., Lalueza-Fox, C., Navarro, A., Marques-Bonet, T. :
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. BMC Genomics 14:363, 2013. Pubmed reference: 23721540. DOI: 10.1186/1471-2164-14-363.
2008 Márquez, M., Serafin, A., Fernández-Bellon, H., Serrat, S., Ferrer-Admetlla, A., Bertranpetit, J., Ferrer, I., Pumarola, M. :
Neuropathologic findings in an aged albino gorilla. Vet Pathol 45:531-7, 2008. Pubmed reference: 18587101. DOI: 10.1354/vp.45-4-531.
2000 Martinez-Arias, R., Comas, D., Andres, A., Abello, M.T., Domingo-Roura, X., Bertranpetit, J. :
The Tyrosinase gene in gorillas and the albinism of 'snowflake' Pigment Cell Research 13:467-470, 2000. Pubmed reference: 11153699.
1967 Riopelle, A.J. :
'Snowflake', the world's first white gorilla National Geographic 131:443-448, 1967.
Sabater Pi, J. :
An albino lowland gorilla from Rio Muni, West Africa, and notes on its adaptation to captivity. Folia Primatol (Basel) 7:155-60, 1967. Pubmed reference: 6055275.

Edit History


  • Created by Frank Nicholas on 08 Jun 2013
  • Changed by Frank Nicholas on 08 Jun 2013
  • Changed by Frank Nicholas on 09 Jun 2013
  • Changed by Frank Nicholas on 11 Dec 2017