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

 Original BMC Genomics site: http://www.biomedcentral.com/1471-2164/14/363

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-Bonet^113*

 

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.

 

  

Keywords: 

Gorilla; Albinism; Inbreeding; Genome; Conservation