NIH-Funded Research Provides Insight Into Genomic Variations And Their Effects On Our Bodies
By Bio-IT World Staff
October 30, 2017 | The National Institutes of Health (NIH) has been busy lately, researching ways to distinguish genomic variations that determine skin color, hair color, disease susceptibility, and other factors.
In the first study of its kind, an international team of genomics researchers has identified new regions of the human genome that are associated with skin color variation in some African populations, opening new avenues for research on skin diseases and cancer in all populations. The study was recently published in Science (DOI:10.1126/science.aan8433).
The researchers of the study studied the genetics of skin color in over 1,500 African participants and compared them to the hundreds of skin studies in Europeans, Quartz reported.
“Studying human skin pigmentation helps researchers understand how the cells that produce skin pigment – melanocytes – and genes work together to protect skin from the damaging effects of UVR,” the NIH said in a press release. “Because equatorial regions receive approximately two times more UVR than more temperate regions, darker pigmentation in people from these regions is thought to reduce skin damage and cancer. In contrast, lighter pigmentation of people in northern countries may increase the production of vitamin D3 needed to prevent rickets, a softening and weakening of bones in children, usually due to inadequate vitamin D.”
According to Inverse, researchers could pinpoint four genes that showed significant variation between people with different skin colors. Of the four genes identified, the one most strongly associated with skin tone was SLC24A5, which has been shown to influence light skin tones in European and some southern Asian populations. The others include the MFSD12 gene, which is associated with a skin condition called vitiligo that makes skin lighter in some areas, and OCA2 and HERC2, which are also associated with light skin.
Unsurprisingly the revelations from this study have prompted several conversations regarding race in general. “There’s a lot we still don’t know about the biology of skin color, but the more we learn about it, the less important skin color seems to be,” Inverse contributor Yasmin Tayag wrote. “If you think of every human’s genome as a novel written in just four nucleotide letters — G, A, T, and C — the genetic differences between people with different skin tones don’t amount to much more than alternate spellings of certain words.”
NIH-funded researchers have also recently completed a detailed atlas documenting the stretches of human DNA that influence gene expression.
The atlas, detailed in a recent Nature study (DOI:10.1038/nature24277), is the culmination of work from the Genotype-Tissue Expression (GTEx) Consortium, established to catalog how genomic variation influences how genes are turned off and on. GTEx launched in 2010 and concluded in the summer of 2017.
Researchers involved in the GTEx Consortium collected data from more than 53 different tissue types (including brain, liver and lung) from autopsy, organ donation and tissue transplant programs. These tissues came from approximately 960 donors in total.
Other coverage on the GTEx Consortium can be found on Alzforum.