For centuries, medical research has been experimented on Europeans or East Asians, in other words, those with lighter skin pigmentation. This has led to an incredibly wide gap in the research for Africans and African Americans. Oculocutaneous Albinism is a genetic condition that leaves the hair, skin, and eyes with little to no pigmentation. It is caused by mutations in genes that are specialized in pigmentation. This condition is relatively common in Africa, however, there has been little research done in order to explore how selection plays a role in certain areas in Africa.

Our experiment examines 37 pigmentation-related genes to identify if there is possible positive selection in 16 sub-Saharan populations in Africa.

We used the computational method of RELATE which infers genome-wide genealogies of thousands of individuals. We used RELATE in order to extract our data. Our gene sequences included a 50kbp flanking sequence in order to analyze our regions. In order to identify outliers in our sequences, we found SNPs that had a value of -log10pvalue >2 and >4. We then calculated the percentage of SNPs that had a threshold value of >5%.

Out of our 37 genes, 31 contained at least 5 SNPs with a value of -log10pvalue > 2, and 25 genes contained at least 1 SNP with a value of -log10pvalue > 4. However, there were 3 genes found in 5 sub-Saharan populations that displayed the strongest evidence of positive selection. The 3 genes being TYRP1, MITF, and SLC24A5, and the 5 sub-Saharan populations being Bantu Tikari, Atlantic Congo Bene Congo Yoruboid Edoid, the Ghana Subset, Asiatic Cushitic Kenya and Afro Asiatic Cushtici Semitic Ethiopia.

When mutations occur in MITF, TYPR1, and SLC24A5, it can lead to Oculocutaneous Albinism 2,3, and 6, Tietz-albinism-deafness Syndrome, and Waardenberg Syndrome.

With these 3 genes, we began to see if any of the SNPs that were above the threshold had a missense mutation that occurred at their specific location on the gene. Unfortunately, we did not identify any SNPs with a missense mutation, however, the locations of these SNPs do seem to be in the range of where some missense mutations have been found.

Natural selection plays an important role in the evolution of phenotypes throughout the world. However, our selection in different phenotypes is still limited in Africa. In the future, there must be an emphasis on the need to study the vast differences in phenotypic variation in Africa in order for us to gain new insights and create new discoveries that don’t just benefit individuals of African descent or African, but for everyone in the world.