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-ca
  • dc.contributor.author Hernando Herráez, Irene, 1985-ca
  • dc.contributor.author Lorente-Galdós, Belén, 1981-ca
  • dc.contributor.author Dabad, Marcca
  • dc.contributor.author Ramírez, Oscarca
  • dc.contributor.author Baeza Delgado, Carlosca
  • dc.contributor.author Morcillo Suárez, Carlos, 1969-ca
  • dc.contributor.author Alkan, Canca
  • dc.contributor.author Hormozdiari, Fereydounca
  • dc.contributor.author Raineri, Emanueleca
  • dc.contributor.author Estellé, Jordica
  • dc.contributor.author Fernández Callejo, Marcosca
  • dc.contributor.author Vallès, Mònicaca
  • dc.contributor.author Ritscher, Larsca
  • dc.contributor.author Schöneberg, Torstenca
  • dc.contributor.author Calle Mustienes, Elisa de laca
  • dc.contributor.author Casillas, Sòniaca
  • dc.contributor.author Rubio Acero, Raquelca
  • dc.contributor.author Melé Messeguer, Marta, 1982-ca
  • dc.contributor.author Engelken, Johannesca
  • dc.contributor.author Cáceres Aguilar, Marioca
  • dc.contributor.author Gómez Skarmeta, José Luisca
  • dc.contributor.author Gut, Martaca
  • dc.contributor.author Bertranpetit, Jaume, 1952-ca
  • dc.contributor.author Gut, Ivo Glynneca
  • dc.contributor.author Abelló, Teresaca
  • dc.contributor.author Eichler, Evan E.ca
  • dc.contributor.author Mingarro, Ismaelca
  • dc.contributor.author Lalueza Fox, Carles, 1965-ca
  • dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-ca
  • dc.contributor.author Marquès i Bonet, Tomàs, 1975-ca
  • dc.date.accessioned 2013-06-12T13:33:33Z
  • dc.date.available 2013-06-12T13:33:33Z
  • dc.date.issued 2013ca
  • 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/pdfca
  • 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: 10.1186/1471-2164-14-363ca
  • dc.identifier.doi http://dx.doi.org/10.1186/1471-2164-14-363
  • dc.identifier.issn 1471-2164ca
  • dc.identifier.uri http://hdl.handle.net/10230/20681
  • dc.language.iso engca
  • dc.publisher BioMed Centralca
  • dc.relation.ispartof BMC Genomics. 2013;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 © Prado-Martinez J et al. Creative Commons Attribution License http://creativecommons.org/licenses/by/2.0/ca
  • dc.rights.accessRights info:eu-repo/semantics/openAccessca
  • 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 wildca
  • dc.type info:eu-repo/semantics/articleca
  • dc.type.version info:eu-repo/semantics/publishedVersionca

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