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

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dc.contributor.author Prado Martínez, Javier, 1987-
dc.contributor.author Hernando Herráez, Irene, 1985-
dc.contributor.author Lorente-Galdós, Belén, 1981-
dc.contributor.author Dabad, Marc
dc.contributor.author Ramírez, Oscar
dc.contributor.author Baeza Delgado, Carlos
dc.contributor.author Morcillo Suárez, Carlos, 1969-
dc.contributor.author Alkan, Can
dc.contributor.author Hormozdiari, Fereydoun
dc.contributor.author Raineri, Emanuele
dc.contributor.author Estellé, Jordi
dc.contributor.author Fernández Callejo, Marcos
dc.contributor.author Vallès, Mònica
dc.contributor.author Ritscher, Lars
dc.contributor.author Schöneberg, Torsten
dc.contributor.author Calle Mustienes, Elisa de la
dc.contributor.author Casillas, Sònia
dc.contributor.author Rubio Acero, Raquel
dc.contributor.author Melé Messeguer, Marta, 1982-
dc.contributor.author Engelken, Johannes
dc.contributor.author Cáceres Aguilar, Mario
dc.contributor.author Gómez Skarmeta, José Luis
dc.contributor.author Gut, Marta
dc.contributor.author Bertranpetit, Jaume, 1952-
dc.contributor.author Gut, Ivo Glynne
dc.contributor.author Abelló, Teresa
dc.contributor.author Eichler, Evan E.
dc.contributor.author Mingarro, Ismael
dc.contributor.author Lalueza Fox, Carles, 1965-
dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
dc.contributor.author Marquès i Bonet, Tomàs, 1975-
dc.date.accessioned 2013-06-12T13:33:33Z
dc.date.available 2013-06-12T13:33:33Z
dc.date.issued 2013
dc.identifier.citation 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;14:363. DOI: 10.1186/1471-2164-14-363
dc.identifier.issn 1471-2164
dc.identifier.uri http://hdl.handle.net/10230/20681
dc.description.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./n/nRESULTS: 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./n/nCONCLUSIONS: 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.
dc.description.sponsorship The Spanish Government for grants BFU2010-14839 to JLG-S, Spanish Government and FEDER for grants BFU2009-13409-C02-02 and BFU2012-38236 to AN and JP-M, BFU2012-39482 to IM, and BFU2011-28549 to TM-B 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.The European Community for an ERC Starting Grant (StG_20091118)) to TM-B.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof BMC Genomics. 2013;14:363
dc.rights © Prado-Martinez J et al. Creative Commons Attribution License http://creativecommons.org/licenses/by/2.0/
dc.rights.uri http://creativecommons.org/licenses/by/2.0/
dc.subject.other Floquet de neu (Goril·la)
dc.subject.other Genètica
dc.subject.other Genòmica
dc.title The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/1471-2164-14-363
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2010-14839
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2009-13409-C02-02
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2012-38236
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2012-39482
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2011-28549
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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