title: The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild.
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.
authors.affiliation: Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, Barcelona 08003, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Prado-Martinez
authors.forename: Irene
authors.initials: I
authors.lastname: Hernando-Herraez
authors.forename: Belen
authors.initials: B
authors.lastname: Lorente-Galdos
authors.forename: Marc
authors.initials: M
authors.lastname: Dabad
authors.forename: Oscar
authors.initials: O
authors.lastname: Ramirez
authors.forename: Carlos
authors.initials: C
authors.lastname: Baeza-Delgado
authors.forename: Carlos
authors.initials: C
authors.lastname: Morcillo-Suarez
authors.forename: Can
authors.initials: C
authors.lastname: Alkan
authors.forename: Fereydoun
authors.initials: F
authors.lastname: Hormozdiari
authors.forename: Emanuele
authors.initials: E
authors.lastname: Raineri
authors.forename: Jordi
authors.initials: J
authors.lastname: Estellé
authors.forename: Marcos
authors.initials: M
authors.lastname: Fernandez-Callejo
authors.forename: Mònica
authors.initials: M
authors.lastname: Valles
authors.forename: Lars
authors.initials: L
authors.lastname: Ritscher
authors.forename: Torsten
authors.initials: T
authors.lastname: Schöneberg
authors.forename: Elisa
authors.initials: E
authors.lastname: de la Calle-Mustienes
authors.forename: Sònia
authors.initials: S
authors.lastname: Casillas
authors.forename: Raquel
authors.initials: R
authors.lastname: Rubio-Acero
authors.forename: Marta
authors.initials: M
authors.lastname: Melé
authors.forename: Johannes
authors.initials: J
authors.lastname: Engelken
authors.forename: Mario
authors.initials: M
authors.lastname: Caceres
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Gomez-Skarmeta
authors.forename: Marta
authors.initials: M
authors.lastname: Gut
authors.forename: Jaume
authors.initials: J
authors.lastname: Bertranpetit
authors.forename: Ivo G
authors.initials: IG
authors.lastname: Gut
authors.forename: Teresa
authors.initials: T
authors.lastname: Abello
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
authors.forename: Ismael
authors.initials: I
authors.lastname: Mingarro
authors.forename: Carles
authors.initials: C
authors.lastname: Lalueza-Fox
authors.forename: Arcadi
authors.initials: A
authors.lastname: Navarro
authors.forename: Tomas
authors.initials: T
authors.lastname: Marques-Bonet
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D005260:Female; D023281:Genomics; D006071:Gorilla gorilla / Q000235:genetics*; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D007178:Inbreeding; D008297:Male; D026901:Membrane Transport Proteins / Q000737:chemistry / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D026901:Membrane Transport Proteins