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 phenotype (MIM 203200) (iii) mutations in TYRP1 cause OCA3 (MIM 203290) and (iv) OCA4 (MIM 606574) is caused by mutations in SLC45A2 (formerly known as MATP and AIM1). Pigmentation is determined by melanin compounds, which are produced in melanocytes and are transported via melanosomes into keratinocytes of the epidermis and hair follicles.

This is a group of Mendelian recessive disorders characterized by the generalized reduction of pigmentation in skin, hair, and eyes. Snowflake was diagnosed with non-syndromic albinism (Oculocutaneous Albinism, OCA). 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. 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. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We successfully identified the causal genetic variant for Snowflake’s albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. 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. Despite previous efforts to explain the genetic cause, this is still unknown. white hair, light eyes, pink skin, photophobia and reduced visual acuity. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. 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.

Lego albino gorilla