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

BMC Genomics

Research Article

Elisa de la Calle-Mustienes¹  Jose Luis Gomez-Skarmeta¹  Marta Gut²  Emanuele Raineri²  Ivo G Gut²  Jordi Estellé³  Carlos Baeza-Delgado⁴  Ismael Mingarro⁴  Fereydoun Hormozdiari⁵  Can Alkan⁶  Evan E Eichler⁷  Belen Lorente-Galdos⁸  Carles Lalueza-Fox⁸  Irene Hernando-Herraez⁸  Marcos Fernandez-Callejo⁸  Marc Dabad⁸  Javier Prado-Martinez⁸  Mònica Valles⁸  Oscar Ramirez⁸  Jaume Bertranpetit⁸  Marta Melé⁹  Johannes Engelken^1,10  Tomas Marques-Bonet^1,11  Carlos Morcillo-Suarez^1,12  Arcadi Navarro^1,13  Raquel Rubio-Acero^1,14  Sònia Casillas^1,14  Mario Caceres^1,15  Torsten Schöneberg^1,16  Lars Ritscher^1,16  Teresa Abello^1,17 

[1] Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide and Junta de Andalucía, Carretera de Utrera Km1, 41013, Sevilla, Spain;Centro Nacional de Análisis Genómico, PCB, 08028, Barcelona, Spain;Centro Nacional de Análisis Genómico, PCB, 08028, Barcelona, Spain;INRA, UMR1313 GABI, Jouy-en-Josas, France;Departament de Bioquímica i Biologia Molecular, Universitat de València, E-46100, Burjassot, Spain;Department of Genome Sciences, University of Washington, 3720 15th AVE NE, 98195, Seattle, WA, USA;Department of Genome Sciences, University of Washington, 3720 15th AVE NE, 98195, Seattle, WA, USA;Department of Computer Engineering, Bilkent University, Ankara, Turkey;Department of Genome Sciences, University of Washington, 3720 15th AVE NE, 98195, Seattle, WA, USA;Howard Hugues Medical Institute, 3720 15th AVE NE, 98195, Seattle, WA, USA;Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Spain;Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Spain;Centre for Genomic Regulation and UPF, Doctor Aiguader 88, 08003, BarcelonaCatalonia, Spain;Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Spain;Department of Evolutionary Genetics, Max-Planck Institute for Evolutionary Anthropology, 04103, Leipzig, Germany;Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Spain;Institució Catalana de Recerca i Estudis Avançats (ICREA), 08010, Barcelona, Spain;Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Spain;Instituto Nacional de Bioinformatica, UPF, Barcelona, Spain;Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, 08003, Barcelona, Spain;Instituto Nacional de Bioinformatica, UPF, Barcelona, Spain;Institució Catalana de Recerca i Estudis Avançats (ICREA), 08010, Barcelona, Spain;Centre for Genomic Regulation and UPF, Doctor Aiguader 88, 08003, BarcelonaCatalonia, Spain;Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, 08193, Bellaterra, Barcelona, Spain;Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, 08193, Bellaterra, Barcelona, Spain;Institució Catalana de Recerca i Estudis Avançats (ICREA), 08010, Barcelona, Spain;Institute of Biochemistry, University of Leipzig, 04103, Leipzig, Germany;Parc Zoològic de Barcelona, 08003, Barcelona, Spain;

关键词: Gorilla;    Albinism;    Inbreeding;    Genome;    Conservation;   

DOI  :  10.1186/1471-2164-14-363

 received in 2013-01-14, accepted in 2013-05-23,  发布年份 2013

来源: Springer

【 摘 要 】

BackgroundThe 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.ResultsWe 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.ConclusionsIn 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.

【 授权许可】

Unknown   
© Prado-Martinez et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.