Abstract
BackgroundThe 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.ResultsWe 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.ConclusionsIn 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.
Highlights
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
We aligned the reads to the reference human genome (NCBI build 37) using GEM [12], and used samtools [13] to identify single nucleotide variants (SNVs) (Methods)
Multimale groups have mainly been observed in mountain gorillas, while only two multimale groups have ever been reported in Western lowland gorillas, suggesting that they are extremely rare in these populations [6]
Summary
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. Snowflake presented the typical properties of albinism as seen in humans: white hair, pink skin, blue eyes, reduced visual acuity and photophobia Given his lack of pigmentation and . It has been widely studied in humans and four genes are found to be causative of this disorder: (i) OCA1A/B (MIM 203100,606952) are caused by mutations in the gene TYR (Tyrosinase) (ii) mutations in the OCA2 gene (previously known as P-gene) can cause OCA2
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