Ancient DNA Reveals Neandertals With Red Hair, Fair Complexions (2007)

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  • 8/2/2019 Ancient DNA Reveals Neandertals With Red Hair, Fair Complexions (2007)

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    What would it have been like to meet a Neandertal? Researchers have hypothe-sized answers for decades, seeking to putflesh on ancient bones. But fossils are silenton many traits, from hair and skin color tospeech and personality.

    Personality will have to wait, but in a paper published online in Science this week (www.sciencemag.org/cgi/content/abstract/

    1147417), an international team announcesthat it has extracted a pigmentation gene, mc1r ,from the bones of two Neander tals. Theresearchers conclude that at least some Nean-dertals had pale skin and red hair, similar tosome of the Homo sapiens who today inhabittheir European homeland. The paper comes onthe heels of one that used similar techniques toshow that Neandertals shared the modernhuman form of the only gene so far known toinfluence human speech, FOXP2 . Althoughresearchers are working to sequence the entire

    Neandertal genome ( Science , 17 Novem-

    ber 2006, p. 1068), these are the first spe-cific nuclear genes to be retrieved.These are the two genes youd most like to see from a Neandertal,explains Svante Pbo of the MaxPlanck Institute for EvolutionaryAnthropology in Leipzig, Ger-many, who led the FOXP2 study.

    The mc1r paper is logical, ele-gant, and convincing, says anthro-

    pologist Nina Jablonski of Pennsyl-vania State University in Univer-sity Park. Its a great paper, agreesmolecular geneticist and pigmenta-tion expert Rick Sturm of theUniversity of Queensland inSt. Lucia, Australia.

    Many of the Neandertalscavorting in museum dioramasaround the world already have paleskin or red hair, because anthropol-ogists have long predicted this col-oration on the basis of evolutionarytheory. The dark skin beneficial inAfrica offers no advantage at highlatitudes, and in cloudy Europe,

    pale skin facilitates vitamin D production,Jablonski says. But there was no proof of

    Neandertalslooks until a team led by CarlesLalueza-Fox of the University of Barcelonain Spain and Holger Rmpler of the Univer-sity of Leipzig in Germany set out to retrievethe mc1r gene from a 43,000-year-old Nean-dertal from El Sidrn, Spain, and a 50,000-year-old specimen from Monti Lessini, Italy.

    MC1R is a cell membrane receptor thathelps regulate the balance between red-and-yellow-colored pheomelanin and black-and-

    brown-colored eumelanin. Living people withvariations that make the receptor work poorlytend to have red hair and pale skin, althoughother pigmentation genes also have strongeffects ( Science , 2 March, p. 1215).

    Using the polymerase chain reaction (PCR)to target and amplify the gene, the researchersfound a point mutation not seen in livinghumans. They checked about 3700 people,including everyone involved in the project,

    to be sure that the variant was unique to

    Neandertals. Next, they explored the variantsfunction by expressing it in human cells and found that it impaired the receptors activity. If you have a variant with this low action in mod-ern humans, you get classically Irish-lookingred hair and pale skin in homozygotes, peoplewith two copies of the variant, says team mem-

    ber Michael Hofreiter of the Max Planck Insti-tute in Leipzig. The researchers calculate thatat least 1 in 100 Neandertals would have beenhomozygotes. Thus Neandertals and Hom

    sapiens in Europe followed independentevolutionary paths to a similar phenotype,Lalueza-Fox says.

    Im convinced that what theyre saying isreal, says Sturm, who has used similar func-

    tional assays to check mc1r variants in living people. Lalueza-Fox adds that Neandertalsmay have carried a variety of changes in mc1as we do, and so may have had a spectrum of skin and hair colors.

    Pbo and colleagues also used targeted PCR to isolate the FOXP2 gene. They chose

    FOXP2 because people with mutations in thegene have impaired speech. Pbos team had

    previously traced the gene in living peopleand suggested that the unique human variantwas selected relatively recently, less than200,000 years agolong after Neandertals

    and modern humans had diverged ( Scienc16 August 2002, p. 1105). The implicationwas that Neandertals lacked the modernhuman form, Pbo says.

    But to their surprise, thats not what theyfound when they sequenced the gene from two

    bones from El Sidrn, where Lalueza-Fox runsa clean excavation for DNA analysis. Both

    bones carried the modern human version of FOXP2 . That doesnt necessarily mean Nean-dertals spoke as we do, because many genes

    presumably influence speech. But from the point of view of the one gene we know, theresnothing to say that Neandertals were differentfrom us in their language abilities, Pbo says.

    Because the Neandertal FOXP2 genmatched that found in living people,Pbos team used extra controls to try torule out contamination with modern humanDNA. For example, they sequenced the

    Neandertal Y chromosome and found that itdiffered from that of living men at five keysites. No contamination of the Y chromo-some strengthens the case that the FOXPresult is real, Pbo says.

    The Y chromosome finding also argues

    Ancient DNA Reveals Neandertals With Red Hair, Fair Complexions

    GENETICS

    26 OCTOBER 2007 VOL 318 SCIENCE www.sciencemag.org

    Ginger man. Some Neandertals had red hair and pale skin, as seen inthis reconstruction of a French fossil.

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    against interbreeding between Neandertals and the modern humans then entering Europe. Ifind it paradoxical in some ways, saysLalueza-Fox, who is an author of both studies.The papers make Neandertals more like mod-ern Europeans, with light skin and hair color and language abilities, and yet there are nosigns of interbreeding with modern humans.

    But others arent yet ready to concede that

    either contamination or mixing has been com- pletely ruled out. The additional controls giveone more confidence that contamination is nota problem, but we cant be 100% sure, saysevolutionary geneticist Jeff Wall of the Univer-sity of California, San Francisco, who inAugust reported what he saw as contaminationin Pbos groups bulk Neandertal sequencing(Science NOW, 29 Aug ust, scie ncen ow.

    sciencemag.org/cgi/content/full/2007/829/4).Wall adds that if the FOXP2 result is real, it

    possible that Neandertals acquired the human FOXP2 variant by mixing. If there was admix-ture, it wasnt very much. But we cant tell if there was a small amount. Pbo says he cantrule out that scenario but considers itunlikely, given the genetic data so far.

    ELIZABETH CULO

    C R E D I T : N

    A T A L I E B E H R I N G / B L O O M B E R G N E W S / L A N D

    O V

    Use energy more efficiently. Put a price on car-

    bon emissions. Develop green energy sources.Those recommendations on sustainable

    development, from a report released thisweek by dozens of the worlds nationalscience academies, may be familiar. But thescientists behind the 174-page effort believethat the urgency of the problem will make upfor its lack of originality in grabbing theattention of policymakers around the globe,and they intend to launch a major effort to getthe message out. The goal is to work fairlydeeply into governments, says Hal Harveyof the Menlo Park, Californiabased William

    and Flora Hewlett Foundation, which helped fund the report, dubbed Lighting the Way .The peer-reviewed reports recommendations

    reflect the diverse perspective of the 15 experts,nominated from more than 90 national acade-mies, working under the auspices of the 7-year-old InterAcademy Council (IAC) in Amsterdam,the Netherlands. Meeting the basic energyneeds of the poorest people on this planet is amoral and social imperative that technologytransfer and international efforts could address, the report begins. On energy effi-ciency, it recognizes that most building con-struction will occur in cities of the developingworld, and it calls on local governments and scientists to develop sustainable practices.California and Brazil are held up as models for energy efficiency and the use of biofuels.Report co-chair and director of LawrenceBerkeley National Laboratory Steven Chucalls the international flavor of the 2-year effort unique, noting that its proposed doublingof applied energy research says that the moneymust be internationally coordinated.

    Co-chair Jos Goldemberg, secretary for the environment in So Paulo, Brazil,

    believes that governments are eager to hear those messages, and he notes that manynational academies in the developing world already have close ties to governments.The report, requested by the science acade-mies of Brazil and China, was rolled out thisweek with a workshop in Beijing and with

    plans for a follow-up symposium in Brazil.The Chinese Academy of Sciences brokered a meeting between Chu and Chinese Premier Wen Jiabao, and CAS President Lu Yongxiangannounced plans, including the creation of arenewable energy R&D center, to help weanChina from its heavy dependence on coal. Amajor element, Lu says, will be a rapid expansion of Chinas nuclear industry, whichcurrently generates just 1.6% of the nations

    power supply.The reports emphasis on the developing

    world should be popular in Washington, D.C., predicts Paul Bledsoe of the nonprofit National Commission on Energy Policy.Although Bledsoe believes that speedy U.S.

    action is a necessary precursor to sustainable policies in the developing world, he notes thatthe willingness of developing nations totackle the problem has been the sticking

    point [in Washington] all along. Roughlyone-fourth of the $550,000 the Hewlett Foun-dation spent on the report is devoted to aninternational media push that would bolster outreach by individual academies.

    Chu hopes the new report will make a big-ger splash than other academic efforts; previ-ous IAC reports on women in science and African agriculture, for example, have caused

    barely a ripple. His model is the 2005 U.S. National Academies report on U.S. science priorities, Rising Above the Gatherin gStorm , that served as the basis for the AmericaCOMPETES Act, which became law this sum-mer. We didnt make claims for originality,says Chu, a member of that panel, too. [But]that report was incredibly successful.

    ELI KINTISWith reporting by Richard Stone in Beijing.

    National Academies Make Case for Sustainable GrowthENER GY POLIC Y

    Burning issue. New report discusseshow to reconcile Chinas booming,coal-fueled economy with greendevelopment.

    Published by AAAS

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