The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

Revision as of 21:27, 15 August 2013 by S (talk | contribs) (Created page with "<p> <a href=""></a></p> <h1 style="padding: 2px 0px 0px; margin: 0px; border: none;...")
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

<section style="padding: 0px; margin: 0px; font-family: Verdana, Arial, Helvetica, sans-serif; font-size: 11.199999809265137px; line-height: 12.800000190734863px;">

Javier Prado-Martinez1Irene Hernando-Herraez1Belen Lorente-Galdos1Marc Dabad1,Oscar Ramirez1Carlos Baeza-Delgado2Carlos Morcillo-Suarez13Can Alkan45,Fereydoun Hormozdiari4Emanuele Raineri6Jordi Estellé67Marcos Fernandez-Callejo1,Mònica Valles1Lars Ritscher8Torsten Schöneberg8Elisa de la Calle-Mustienes9Sònia Casillas10Raquel Rubio-Acero10Marta Melé111Johannes Engelken112Mario Caceres1013Jose Luis Gomez-Skarmeta9Marta Gut6Jaume Bertranpetit1Ivo G Gut6,Teresa Abello14Evan E Eichler154Ismael Mingarro2Carles Lalueza-Fox1Arcadi Navarro113163 and Tomas Marques-Bonet113*



The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas.


We successfully identified the causal genetic variant for Snowflake’s albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that Snowflake’s parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla.


In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost.



Gorilla; Albinism; Inbreeding; Genome; Conservation