New gene variants reveal the evolution of human skin color

first_img New gene variants reveal the evolution of human skin color ALESSIA RANCIARO & DR. SIMON R. THOMPSON Researchers have identified genes that help create diverse skin tones, such as those seen in the Agaw (left) and Surma (right) peoples of Africa. Click to view the privacy policy. Required fields are indicated by an asterisk (*) By Ann GibbonsOct. 12, 2017 , 2:00 PM Researchers agree that our early australopithecine ancestors in Africa probably had light skin beneath hairy pelts. “If you shave a chimpanzee, its skin is light,” says evolutionary geneticist Sarah Tishkoff of the University of Pennsylvania, the lead author of the new study. “If you have body hair, you don’t need dark skin to protect you from ultraviolet [UV] radiation.”Until recently, researchers assumed that after human ancestors shed most body hair, sometime before 2 million years ago, they quickly evolved dark skin for protection from skin cancer and other harmful effects of UV radiation. Then, when humans migrated out of Africa and headed to the far north, they evolved lighter skin as an adaptation to limited sunlight. (Pale skin synthesizes more vitamin D when light is scarce.)Previous research on skin-color genes fit that picture. For example, a “depigmentation gene” called SLC24A5 linked to pale skin swept through European populations in the past 6000 years. But Tishkoff ’s team found that the story of skin color evolution isn’t so black and white. Her team, including African researchers, used a light meter to measure skin reflectance in 2092 people in Ethiopia, Tanzania, and Botswana. They found the darkest skin in the Nilo-Saharan pastoralist populations of eastern Africa, such as the Mursi and Surma, and the lightest skin in the San of southern Africa, as well as many shades in between, as in the Agaw people of Ethiopia.At the same time, they collected blood samples for genetic studies. They sequenced more than 4 million single nucleotide polymorphisms (SNPs)—places where a single letter of the genetic code varies across the genomes of 1570 of these Africans. They found four key areas of the genome where specific SNPs correlate with skin color.The first surprise was that SLC24A5, which swept Europe, is also common in East Africa—found in as many as half the members of some Ethiopian groups. This variant arose 30,000 years ago and was probably brought to eastern Africa by people migrating from the Middle East, Tishkoff says. But though many East Africans have this gene, they don’t have white skin, probably because it is just one of several genes that shape their skin color.The team also found variants of two neighboring genes, HERC2 and OCA2, which are associated with light skin, eyes, and hair in Europeans but arose in Africa; these variants are ancient and common in the light-skinned San people. The team proposes that the variants arose in Africa as early as 1 million years ago and spread later to Europeans and Asians. “Many of the gene variants that cause light skin in Europe have origins in Africa,” Tishkoff says.The most dramatic discovery concerned a gene known as MFSD12. Two mutations that decrease expression of this gene were found in high frequencies in people with the darkest skin. These variants arose about a half-million years ago, suggesting that human ancestors before that time may have had moderately dark skin, rather than the deep black hue created today by these mutations.These same two variants are found in Melanesians, Australian Aborigines, and some Indians. These people may have inherited the variants from ancient migrants from Africa who followed a “southern route” out of East Africa, along the southern coast of India to Melanesia and Australia, Tishkoff says. That idea, however, counters three genetic studies that concluded last year that Australians, Melanesians, and Eurasians all descend from a single migration out of Africa. Alternatively, this great migration may have included people carrying variants for both light and dark skin, but the dark variants later were lost in Eurasians.To understand how the MFSD12 mutations help make darker skin, the researchers reduced expression of the gene in cultured cells, mimicking the action of the variants in dark-skinned people. The cells produced more eumelanin, the pigment responsible for black and brown skin, hair, and eyes. The mutations may also change skin color by blocking yellow pigments: When the researchers knocked out MFSD12 in zebrafish and mice, red and yellow pigments were lost, and the mice’s light brown coats turned gray. “This new mechanism for producing intensely dark pigmentation is really the big story,” says Nina Jablonski, an anthropologist at Pennsylvania State University in State College.The study adds to established research undercutting old notions of race. You can’t use skin color to classify humans, any more than you can use other complex traits like height, Tishkoff says. “There is so much diversity in Africans that there is no such thing as an African race.”center_img Email Sign up for our daily newsletter Get more great content like this delivered right to you! Country Country * Afghanistan Aland Islands Albania Algeria Andorra Angola Anguilla Antarctica Antigua and Barbuda Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia, Plurinational State of Bonaire, Sint Eustatius and Saba Bosnia and Herzegovina Botswana Bouvet Island Brazil British Indian Ocean Territory Brunei Darussalam Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman Islands Central African Republic Chad Chile China Christmas Island Cocos (Keeling) Islands Colombia Comoros Congo Congo, the Democratic Republic of the Cook Islands Costa Rica Cote d’Ivoire Croatia Cuba Curaçao Cyprus Czech Republic Denmark Djibouti Dominica Dominican Republic Ecuador Egypt El Salvador Equatorial Guinea Eritrea Estonia Ethiopia Falkland Islands (Malvinas) Faroe Islands Fiji Finland France French Guiana French Polynesia French Southern Territories Gabon Gambia Georgia Germany Ghana Gibraltar Greece Greenland Grenada Guadeloupe Guatemala Guernsey Guinea Guinea-Bissau Guyana Haiti Heard Island and McDonald Islands Holy See (Vatican City State) Honduras Hungary Iceland India Indonesia Iran, Islamic Republic of Iraq Ireland Isle of Man Israel Italy Jamaica Japan Jersey Jordan Kazakhstan Kenya Kiribati Korea, Democratic People’s Republic of Korea, Republic of Kuwait Kyrgyzstan Lao People’s Democratic Republic Latvia Lebanon Lesotho Liberia Libyan Arab Jamahiriya Liechtenstein Lithuania Luxembourg Macao Macedonia, the former Yugoslav Republic of Madagascar Malawi Malaysia Maldives Mali Malta Martinique Mauritania Mauritius Mayotte Mexico Moldova, Republic of Monaco Mongolia Montenegro Montserrat Morocco Mozambique Myanmar Namibia Nauru Nepal Netherlands New Caledonia New Zealand Nicaragua Niger Nigeria Niue Norfolk Island Norway Oman Pakistan Palestine Panama Papua New Guinea Paraguay Peru Philippines Pitcairn Poland Portugal Qatar Reunion Romania Russian Federation Rwanda Saint Barthélemy Saint Helena, Ascension and Tristan da Cunha Saint Kitts and Nevis Saint Lucia Saint Martin (French part) Saint Pierre and Miquelon Saint Vincent and the Grenadines Samoa San Marino Sao Tome and Principe Saudi Arabia Senegal Serbia Seychelles Sierra Leone Singapore Sint Maarten (Dutch part) Slovakia Slovenia Solomon Islands Somalia South Africa South Georgia and the South Sandwich Islands South Sudan Spain Sri Lanka Sudan Suriname Svalbard and Jan Mayen Swaziland Sweden Switzerland Syrian Arab Republic Taiwan Tajikistan Tanzania, United Republic of Thailand Timor-Leste Togo Tokelau Tonga Trinidad and Tobago Tunisia Turkey Turkmenistan Turks and Caicos Islands Tuvalu Uganda Ukraine United Arab Emirates United Kingdom United States Uruguay Uzbekistan Vanuatu Venezuela, Bolivarian Republic of Vietnam Virgin Islands, British Wallis and Futuna Western Sahara Yemen Zambia Zimbabwe Most people associate Africans with dark skin. But different groups of people in Africa have almost every skin color on the planet, from deepest black in the Dinka of South Sudan to beige in the San of South Africa. Now, researchers have discovered a handful of new gene variants responsible for this palette of tones.The study, published online this week in Science, traces the evolution of these genes and how they traveled around the world. While the dark skin of some Pacific Islanders can be traced to Africa, gene variants from Eurasia also seem to have made their way back to Africa. And surprisingly, some of the mutations responsible for lighter skin in Europeans turn out to have an ancient African origin.“This is really a landmark study of skin color diversity,” says geneticist Greg Barsh of the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. last_img read more