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

Javier Prado-Martinez, Irene Hernando-Herraez, Belen Lorente-Galdos, Marc Dabad, Oscar Ramirez, Carlos Baeza-Delgado, Carlos Morcillo-Suarez, Can Alkan, Fereydoun Hormozdiari, Emanuele Raineri, Jordi Estellé, Marcos Fernandez-Callejo, Mònica Valles, Lars Ritscher, Torsten Schöneberg, Elisa de la Calle-Mustienes, Sònia Casillas, Raquel Rubio-Acero, Marta Melé, Johannes EngelkenMario Caceres, Jose Luis Gomez-Skarmeta, Marta Gut, Jaume Bertranpetit, Ivo G. Gut, Teresa Abello, Evan E. Eichler, Ismael Mingarro, Carles Lalueza-Fox, Arcadi Navarro, Tomas Marques-Bonet

Research output: Contribution to journalArticle

24 Citations (Scopus)

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.

Original languageEnglish (US)
Article number363
JournalBMC Genomics
Volume14
Issue number1
DOIs
StatePublished - May 31 2013
Externally publishedYes

Fingerprint

Gorilla gorilla
Inbreeding
Albinism
Genome
Equatorial Guinea
Oculocutaneous Albinism
Photophobia
Hair
Visual Acuity
Nucleotides
Genotype
Phenotype
Light
Amino Acids
Costs and Cost Analysis
Skin
Membranes

Keywords

  • Albinism
  • Conservation
  • Genome
  • Gorilla
  • Inbreeding

ASJC Scopus subject areas

  • Biotechnology
  • Genetics

Cite this

Prado-Martinez, J., Hernando-Herraez, I., Lorente-Galdos, B., Dabad, M., Ramirez, O., Baeza-Delgado, C., ... Marques-Bonet, T. (2013). The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. BMC Genomics, 14(1), [363]. https://doi.org/10.1186/1471-2164-14-363

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. / Prado-Martinez, Javier; Hernando-Herraez, Irene; Lorente-Galdos, Belen; Dabad, Marc; Ramirez, Oscar; Baeza-Delgado, Carlos; Morcillo-Suarez, Carlos; Alkan, Can; Hormozdiari, Fereydoun; Raineri, Emanuele; Estellé, Jordi; Fernandez-Callejo, Marcos; Valles, Mònica; Ritscher, Lars; Schöneberg, Torsten; de la Calle-Mustienes, Elisa; Casillas, Sònia; Rubio-Acero, Raquel; Melé, Marta; Engelken, Johannes; Caceres, Mario; Gomez-Skarmeta, Jose Luis; Gut, Marta; Bertranpetit, Jaume; Gut, Ivo G.; Abello, Teresa; Eichler, Evan E.; Mingarro, Ismael; Lalueza-Fox, Carles; Navarro, Arcadi; Marques-Bonet, Tomas.

In: BMC Genomics, Vol. 14, No. 1, 363, 31.05.2013.

Research output: Contribution to journalArticle

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, JL, Gut, M, Bertranpetit, J, Gut, IG, Abello, T, Eichler, EE, Mingarro, I, Lalueza-Fox, C, Navarro, A & Marques-Bonet, T 2013, 'The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild', BMC Genomics, vol. 14, no. 1, 363. https://doi.org/10.1186/1471-2164-14-363
Prado-Martinez J, Hernando-Herraez I, Lorente-Galdos B, Dabad M, Ramirez O, Baeza-Delgado C et al. The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. BMC Genomics. 2013 May 31;14(1). 363. https://doi.org/10.1186/1471-2164-14-363
Prado-Martinez, Javier ; Hernando-Herraez, Irene ; Lorente-Galdos, Belen ; Dabad, Marc ; Ramirez, Oscar ; Baeza-Delgado, Carlos ; Morcillo-Suarez, Carlos ; Alkan, Can ; Hormozdiari, Fereydoun ; Raineri, Emanuele ; Estellé, Jordi ; Fernandez-Callejo, Marcos ; Valles, Mònica ; Ritscher, Lars ; Schöneberg, Torsten ; de la Calle-Mustienes, Elisa ; Casillas, Sònia ; Rubio-Acero, Raquel ; Melé, Marta ; Engelken, Johannes ; Caceres, Mario ; Gomez-Skarmeta, Jose Luis ; Gut, Marta ; Bertranpetit, Jaume ; Gut, Ivo G. ; Abello, Teresa ; Eichler, Evan E. ; Mingarro, Ismael ; Lalueza-Fox, Carles ; Navarro, Arcadi ; Marques-Bonet, Tomas. / The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. In: BMC Genomics. 2013 ; Vol. 14, No. 1.
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AU - Prado-Martinez, Javier

AU - Hernando-Herraez, Irene

AU - Lorente-Galdos, Belen

AU - Dabad, Marc

AU - Ramirez, Oscar

AU - Baeza-Delgado, Carlos

AU - Morcillo-Suarez, Carlos

AU - Alkan, Can

AU - Hormozdiari, Fereydoun

AU - Raineri, Emanuele

AU - Estellé, Jordi

AU - Fernandez-Callejo, Marcos

AU - Valles, Mònica

AU - Ritscher, Lars

AU - Schöneberg, Torsten

AU - de la Calle-Mustienes, Elisa

AU - Casillas, Sònia

AU - Rubio-Acero, Raquel

AU - Melé, Marta

AU - Engelken, Johannes

AU - Caceres, Mario

AU - Gomez-Skarmeta, Jose Luis

AU - Gut, Marta

AU - Bertranpetit, Jaume

AU - Gut, Ivo G.

AU - Abello, Teresa

AU - Eichler, Evan E.

AU - Mingarro, Ismael

AU - Lalueza-Fox, Carles

AU - Navarro, Arcadi

AU - Marques-Bonet, Tomas

PY - 2013/5/31

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