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Open Access Highly Accessed Research article

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

Javier Prado-Martinez1, Irene Hernando-Herraez1, Belen Lorente-Galdos1, Marc Dabad1, Oscar Ramirez1, Carlos Baeza-Delgado2, Carlos Morcillo-Suarez13, Can Alkan45, Fereydoun Hormozdiari4, Emanuele Raineri6, Jordi Estellé67, Marcos Fernandez-Callejo1, Mònica Valles1, Lars Ritscher8, Torsten Schöneberg8, Elisa de la Calle-Mustienes9, Sònia Casillas10, Raquel Rubio-Acero10, Marta Melé111, Johannes Engelken112, Mario Caceres1013, Jose Luis Gomez-Skarmeta9, Marta Gut6, Jaume Bertranpetit1, Ivo G Gut6, Teresa Abello14, Evan E Eichler154, Ismael Mingarro2, Carles Lalueza-Fox1, Arcadi Navarro113163 and Tomas Marques-Bonet113*

Author Affiliations

1 Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, Barcelona 08003, Spain

2 Departament de Bioquímica i Biologia Molecular, Universitat de València, Burjassot E-46100, Spain

3 Instituto Nacional de Bioinformatica, UPF, Barcelona, Spain

4 Department of Genome Sciences, University of Washington, 3720 15th AVE NE, Seattle, WA 98195, USA

5 Department of Computer Engineering, Bilkent University, Ankara, Turkey

6 Centro Nacional de Análisis Genómico, PCB, Barcelona 08028, Spain

7 Current address: INRA, UMR1313 GABI, Jouy-en-Josas, France

8 Institute of Biochemistry, University of Leipzig, Leipzig 04103, Germany

9 Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide and Junta de Andalucía, Carretera de Utrera Km1, Sevilla 41013, Spain

10 Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona 08193, Spain

11 Current address: Centre for Genomic Regulation and UPF, Doctor Aiguader 88, Barcelona 08003, Catalonia, Spain

12 Department of Evolutionary Genetics, Max-Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany

13 Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona 08010, Spain

14 Parc Zoològic de Barcelona, Barcelona 08003, Spain

15 Howard Hugues Medical Institute, 3720 15th AVE NE, Seattle, WA 98195, USA

16 Centre for Genomic Regulation and UPF, Doctor Aiguader 88, Barcelona 08003, Catalonia, Spain

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BMC Genomics 2013, 14:363  doi:10.1186/1471-2164-14-363

Published: 31 May 2013



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