The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.
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DOI：
10.1016/j.ajhg.2017.09.010
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发表时间：
2017-10-05
影响因子：
9.8
通讯作者：
Kelso J
中科院分区：
文献类型：
--
作者：
Dannemann M;Kelso J
评估尼安德特人对现代人类非疾病表型的遗传贡献一直很困难，因为缺乏可获得常见表型信息的大型队列。使用英国生物银行收集的112，000人的基线表型，我们现在可以详细说明以前的发现，这些发现确定了尼安德特人DNA上的正选择签名与各种现代人类特征之间的关联，但没有任何特定的表型后果。在这里，我们表明，尼安德特人的DNA影响肤色和头发颜色，身高，睡眠模式，情绪和吸烟状况在今天的欧洲人。有趣的是，不同基因座的多个尼安德特人等位基因对当今欧洲人的皮肤和头发颜色有影响，这些尼安德特人等位基因对较浅和较深的肤色和头发颜色都有影响，这表明尼安德特人本身在这些特征上最有可能是可变的。
Assessing the genetic contribution of Neanderthals to non-disease phenotypes in modern humans has been difficult because of the absence of large cohorts for which common phenotype information is available. Using baseline phenotypes collected for 112,000 individuals by the UK Biobank, we can now elaborate on previous findings that identified associations between signatures of positive selection on Neanderthal DNA and various modern human traits but not any specific phenotypic consequences. Here, we show that Neanderthal DNA affects skin tone and hair color, height, sleeping patterns, mood, and smoking status in present-day Europeans. Interestingly, multiple Neanderthal alleles at different loci contribute to skin and hair color in present-day Europeans, and these Neanderthal alleles contribute to both lighter and darker skin tones and hair color, suggesting that Neanderthals themselves were most likely variable in these traits.
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影响因子：
12.3
作者：
McLaren W;Gil L;Hunt SE;Riat HS;Ritchie GR;Thormann A;Flicek P;Cunningham F
通讯作者：
Cunningham F
影响因子：
64.8
作者：
Mallick, Swapan;Li, Heng;Lipson, Mark;Mathieson, Iain;Gymrek, Melissa;Racimo, Fernando;Zhao, Mengyao;Chennagiri, Niru;Nordenfelt, Susanne;Tandon, Arti;Skoglund, Pontus;Lazaridis, Iosif;Sankararaman, Sriram;Fu, Qiaomei;Rohland, Nadin;Renaud, Gabriel;Erlich, Yaniv;Willems, Thomas;Gallo, Carla;Spence, Jeffrey P.;Song, Yun S.;Poletti, Giovanni;Balloux, Francois;van Driem, George;de Knijff, Peter;Romero, Irene Gallego;Jha, Aashish R.;Behar, Doron M.;Bravi, Claudio M.;Capelli, Cristian;Hervig, Tor;Moreno-Estrada, Andres;Posukh, Olga L.;Balanovska, Elena;Balanovsky, Oleg;Karachanak-Yankova, Sena;Sahakyan, Hovhannes;Toncheva, Draga;Yepiskoposyan, Levon;Tyler-Smith, Chris;Xue, Yali;Abdullah, M. Syafiq;Ruiz-Linares, Andres;Beall, Cynthia M.;Di Rienzo, Anna;Jeong, Choongwon;Starikovskaya, Elena B.;Metspalu, Ene;Parik, Juri;Villems, Richard;Henn, Brenna M.;Hodoglugil, Ugur;Mahley, Robert;Sajantila, Antti;Stamatoyannopoulos, George;Wee, Joseph T. S.;Khusainova, Rita;Khusnutdinova, Elza;Litvinov, Sergey;Ayodo, George;Comas, David;Hammer, Michael F.;Kivisild, Toomas;Klitz, William;Winkler, Cheryl A.;Labuda, Damian;Bamshad, Michael;Jorde, Lynn B.;Tishkoff, Sarah A.;Watkins, W. Scott;Metspalu, Mait;Dryomov, Stanislav;Sukernik, Rem;Singh, Lalji;Thangaraj, Kumarasamy;Paeaebo, Svante;Kelso, Janet;Patterson, Nick;Reich, David
通讯作者：
Reich, David
影响因子：
64.8
作者：
Fu Q;Posth C;Hajdinjak M;Petr M;Mallick S;Fernandes D;Furtwängler A;Haak W;Meyer M;Mittnik A;Nickel B;Peltzer A;Rohland N;Slon V;Talamo S;Lazaridis I;Lipson M;Mathieson I;Schiffels S;Skoglund P;Derevianko AP;Drozdov N;Slavinsky V;Tsybankov A;Cremonesi RG;Mallegni F;Gély B;Vacca E;Morales MR;Straus LG;Neugebauer-Maresch C;Teschler-Nicola M;Constantin S;Moldovan OT;Benazzi S;Peresani M;Coppola D;Lari M;Ricci S;Ronchitelli A;Valentin F;Thevenet C;Wehrberger K;Grigorescu D;Rougier H;Crevecoeur I;Flas D;Semal P;Mannino MA;Cupillard C;Bocherens H;Conard NJ;Harvati K;Moiseyev V;Drucker DG;Svoboda J;Richards MP;Caramelli D;Pinhasi R;Kelso J;Patterson N;Krause J;Pääbo S;Reich D
通讯作者：
Reich D
影响因子：
10.7
作者：
Mendez, Fernando L.;Watkins, Joseph C.;Hammer, Michael F.
通讯作者：
Hammer, Michael F.
影响因子：
3.5
作者：
Flanagan, N;Healy, E;Rees, JL
通讯作者：
Rees, JL