OMIA:001821-9593 : Coat colour, albinism, oculocutaneous type IV in Gorilla gorilla
In other species: Japanese medaka , dog , cattle
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606574 (trait) , 227240 (trait) , 606202 (gene)
Links to MONDO diseases:
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."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC45A2||solute carrier family 45, member 2||Gorilla gorilla||17||NC_073241.1 (75181377..75143259)||SLC45A2||Homologene, Ensembl , NCBI gene|
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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|
|861||Coat colour, albinism, oculocutaneous type IV||SLC45A2||missense||Naturally occurring variant||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|
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 .|
- 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