English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/77644
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

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

AuthorsPrado-Martinez, Javier ; Hernando-Herraez, Irene ; Lorente-Galdós, Belén ; Dabad, Marc; Ramírez, Óscar ; Morcillo-Suárez, Carlos ; Fernández-Callejo, Marcos; Valles, Mònica; Calle-Mustienes, Elisa de la ; Melé, Marta ; Engelken, Johannes ; Gómez-Skarmeta, José Luis ; Bertranpetit, Jaume ; Lalueza-Fox, Carles ; Navarro, Arcadi ; Marqués-Bonet, Tomàs
Issue Date31-May-2013
PublisherBioMed Central
CitationBMC Genomics 14(1): 363 (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.
DescriptionThis 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.-- et al.
Publisher version (URL)http://dx.doi.org/10.1186/1471-2164-14-363
Appears in Collections:(IBE) Artículos
(CABD) Artículos
Files in This Item:
File Description SizeFormat 
1471-2164-14-363.xml61,49 kBXMLView/Open
1471-2164-14-363-S2.DOCX669,48 kBMicrosoft Word XMLView/Open
1471-2164-14-363.pdf1,12 MBAdobe PDFThumbnail
1471-2164-14-363-S1.XLSX51,24 kBMicrosoft Excel XMLView/Open
Show full item record
Review this work

Related articles:

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.