Abstract
There is a large range of human skin color, yet we know very little about the underlying genetic architecture. Is the number of skin color genes close to five, 50, or 500?
Highlights
Diversity of human appearance and form has intrigued biologists for centuries, but nearly 100 years after the term “genetics’’ was coined by William Bateson in 1906, the genes that underlie this diversity are an unsolved mystery
At the other end of the spectrum, inadequate exposure to sunlight, leading to vitamin D deficiency and rickets, has been mostly cured by nutritional advances made in the early 1900s. In both cases, understanding the genetic architecture of human skin color is likely to provide a greater appreciation of underlying biological mechanisms, much in the same way that mutational hotspots in the gene TP53 have helped to educate society about the risks of tobacco (Takahashi et al 1989; Toyooka et al 2003)
From a basic science perspective, variation in human skin color represents an unparalleled opportunity for cell biologists, geneticists, and anthropologists to learn more about the biogenesis and movement of subcellular organelles, to better characterize the relationship between genotypic and phenotypic diversity, to further investigate human origins, and to understand how recent human evolution may have been shaped by natural selection
Summary
Diversity of human appearance and form has intrigued biologists for centuries, but nearly 100 years after the term “genetics’’ was coined by William Bateson in 1906, the genes that underlie this diversity are an unsolved mystery. One of the most obvious phenotypes that distinguish members of our species, differences in skin pigmentation, is one of the most enigmatic. There is a tremendous range of human skin color in which variation can be correlated with climates, continents, and/or cultures, yet we know very little about the underlying genetic architecture. Do gain- and loss-offunction alleles for a small set of genes give rise to phenotypes at opposite ends of the pigmentary spectrum? Has the effect of natural selection on similar pigmentation phenotypes proceeded independently via similar pathways? Should we care about the genetics of human pigmentation if it is only skin-deep?. Unsolved Mysteries discuss a topic of biological importance that is poorly understood and in need of attention
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