Web of Science: 30 citations, Scopus: 31 citations, Google Scholar: citations,
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
Prado Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Hernando Herraez, Irene (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Lorente Galdos, Belén (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Dabad, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Ramirez, Òscar (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Baeza Delgado, Carlos (Universitat de València. Departament de Bioquímica i Biologia Molecular)
Morcillo Suarez, Carlos (Universitat Pompeu Fabra. Instituto Nacional de Bioinformatica)
Alkan, Can (Bilkent University. Department of Computer Engineering)
Hormozdiari, Fereydoun. (University of Washington. Department of Genome Sciences)
Raineri, Emanuele (Centre Nacional d'Anàlisi Genòmica)
Estellé, Jordi (Centre Nacional d'Anàlisi Genòmica)
Fernández, Marcos (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Valles, Mònica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Ritscher, Lars (University of Leipzig. Institute of Biochemistry)
Schöneberg, Torsten (University of Leipzig. Institute of Biochemistry)
De la Calle-Mustienes, Elisa (Centro Andaluz de Biología del Desarrollo)
Casillas Viladerrams, Sònia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Rubio Acero, Raquel (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Melé, M. (Universitat Pompeu Fabra. Centre de Regulació Genòmica (CRG-UPF))
Engelken, Johannes (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Gomez-Skarmeta, José Luis (Centro Andaluz de Biología del Desarrollo)
Gut, Marta (Centre Nacional d'Anàlisi Genòmica)
Bertranpetit, Jaume (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Gut, Ivo G. (Centre Nacional d'Anàlisi Genòmica)
Abello, Teresa (Zoo de Barcelona)
Eichler, Evan E. (Howard Hugues Medical Institute)
Mingarro, Ismael (Universitat de València. Departament de Bioquímica i Biologia Molecular)
Lalueza-Fox, Carles (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona))
Navarro, A. (Institució Catalana de Recerca i Estudis Avançats)
Marques-Bonet, Tomas (Institució Catalana de Recerca i Estudis Avançats)

Date: 2013
Abstract: Background: 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. - Results: 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. - Conclusions: 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.
Grants: Ministerio de Ciencia e Innovación BFU2012-39482
Ministerio de Ciencia e Innovación BFU2012-38236
Ministerio de Ciencia e Innovación BFU2011-28549
Ministerio de Ciencia e Innovación BFU2010-14839
Ministerio de Ciencia e Innovación BFU2009-13409-C02-02
Note: Altres ajuts: ERC grant: ERC-2010-StG_20091118. The Andalusian Government for grants CSD2007-00008 and CVI-3488, supported by FEDER to JLG-S The Barcelona Zoo (Ajuntament de Barcelona) for an award to JP-M. EEE is an investigator with the Howard Hughes Medical Institute
Rights: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Language: Anglès
Document: Article ; recerca ; Versió publicada
Subject: Gorilla ; Albinism ; Inbreeding ; Genome ; Conservation
Published in: BMC genomics, Vol. 14 (2013) , art. 363, ISSN 1471-2164

DOI: 10.1186/1471-2164-14-363
PMID: 23721540


8 p, 990.0 KB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Biotecnologia i de Biomedicina (IBB)
Articles > Research articles
Articles > Published articles

 Record created 2020-06-22, last modified 2022-07-30



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