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-Bonet113*
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