由中国深圳华大基因研究院和丹麦哥本哈根大学联合创建的中丹基因组联合中心近日完成了世界首例古人类全基因组的深度序列测定和解读工作。这一历史性成果以封面故事发表在2月11日出版的科学期刊《自然》上。
该论文中的古人类样本来源于一个被称为Saqqaq的人类群体，约在4750年前至2500年前居住于地球北极附近的格陵兰岛，其后灭绝。数年前，科学家从格陵兰岛永冻层中发现了一名约生活在4000年前的Saqqaq古人的头发样本，随即开展了各项研究工作。2009年，中丹两国科研工作者成功从该头发样本中提取出细胞核DNA碎片并进行了测定，经过艰苦的组装和序列分析工作，证明来自格陵兰岛的Saqqaq古人的遗传信息比公认的美洲原住民（主要是印第安人和因纽特人，同属黄种人）更加接近于现代东亚和西伯利亚人群。该研究以强有力的数据证明，在现代美洲原住民迁徙到美洲之前，还有更早一批的黄种人群体经西伯利亚迁徙到美洲，为这一人类演化历史中的重大问题提供了根本证据。非常有趣的是，科学家通过对其基因组序列的仔细分析，推断出这一4000年前古人类应该具有在亚洲人中常见的A型血、褐色眼睛、浓密的黑发和较干的耳蜡，同时很有可能是一名秃顶男性。（生物谷Bioon.com）
华大基因近期研究成果：
Nature：新一代合成法成功绘制大熊猫基因组图谱
Nature Biotechnology：构建人类泛基因组序列图谱
Science：家蚕基因组测序成功
生物谷推荐原始出处：
Nature 463, 757-762 (11 February 2010) | doi:10.1038/nature08835
Ancient human genome sequence of an extinct Palaeo-Eskimo
Morten Rasmussen1,2,25, Yingrui Li2,3,25, Stinus Lindgreen1,4,25, Jakob Skou Pedersen4, Anders Albrechtsen4, Ida Moltke4, Mait Metspalu5, Ene Metspalu5, Toomas Kivisild5,6, Ramneek Gupta7, Marcelo Bertalan7, Kasper Nielsen7, M. Thomas P. Gilbert1,2, Yong Wang8, Maanasa Raghavan1,9, Paula F. Campos1, Hanne Munkholm Kamp1,4, Andrew S. Wilson10, Andrew Gledhill10, Silvana Tridico11,12, Michael Bunce12, Eline D. Lorenzen1, Jonas Binladen1, Xiaosen Guo2,3, Jing Zhao2,3, Xiuqing Zhang2,3, Hao Zhang2,3, Zhuo Li2,3, Minfeng Chen2,3, Ludovic Orlando13, Karsten Kristiansen2,3,4, Mads Bak14, Niels Tommerup14, Christian Bendixen15, Tracey L. Pierre16, Bjarne Gr?nnow17, Morten Meldgaard18, Claus Andreasen19, Sardana A. Fedorova5,20, Ludmila P. Osipova21, Thomas F. G. Higham9, Christopher Bronk Ramsey10, Thomas v. O. Hansen22, Finn C. Nielsen22, Michael H. Crawford23, S?ren Brunak7,24, Thomas Sicheritz-Pontén7, Richard Villems5, Rasmus Nielsen4,8, Anders Krogh2,4, Jun Wang2,3,4 & Eske Willerslev1,2
Centre for GeoGenetics, Natural History Museum of Denmark and Department of Biology, University of Copenhagen, Universitetsparken 15, DK-2100 Copenhagen, Denmark
Sino-Danish Genomics Center, BGI-Shenzhen, Shenzhen 518083, China, and University of Copenhagen, DK-2100 Copenhagen, Denmark
BGI-Shenzhen, Shenzhen 518083, China
Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, DK-2200 Copenhagen, Denmark
Department of Evolutionary Biology, Tartu University and Estonian Biocentre, 23 Riia Street, 510101 Tartu, Estonia
Leverhulme Centre for Human Evolutionary Studies, Department of Biological Anthropology, Henry Wellcome Building, Fitzwilliam Street, University of Cambridge, Cambridge CB2 1QH, UK
Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, DK-2800 Lyngby, Denmark
Departments of Integrative Biology and Statistics, UC-Berkeley, 4098 VLSB, Berkeley, California 94720, USA
Research Laboratory for Archaeology and the History of Art, Dyson Perrins Building, South Parks Road, Oxford OX1 3QY, UK
Department of Archaeological Sciences, School of Life Sciences, University of Bradford, West Yorkshire, Bradford BD7 1DP, UK
Biological Criminalistics, Australian Federal Police, 1 Unwin Place, Weston, ACT 2611, Australia
Ancient DNA Laboratory, School of Biological Sciences and Biotechnology, Murdoch University, Perth 6150, Australia
Paleogenetics and Molecular Evolution, Institut de Génomique Fonctionnelle de Lyon, Université de Lyon, Université Lyon 1, CNRS, INRA, Ecole Normale Supérieure de Lyon, 46 allée d’Italie, 69364 Lyon Cedex 07, France
Wilhelm Johannsen Centre For Functional Genome Research, University of Copenhagen, Department of Cellular and Molecular Medicine, The Panum Institute, Blegdamsvej 3A, DK-2200 Copenhagen, Denmark
Department of Genetics and Biotechnology, Aarhus University, Blichers Allé 20PO BOX 50, DK-8830 Tjele, Denmark
Department of Biological Anthropology, University of Cambridge, Cambridge CB2 3QY, UK
Ethnographic Collections, National Museum of Denmark, Frederiksholms Kanal 12, DK-1220 Copenhagen, Denmark
Natural History Museum of Denmark, University of Copenhagen, ?ster Voldgade 5-7, DK-1350 Copenhagen, Denmark
Greenland National Museum and Archives, PO Box 145, DK-3900 Nuuk, Greenland
Department of Molecular Genetics, Yakut Research Centre, Russian Academy of Medical Sciences, 4 Sergelyahonskoe Shosse, Yakutsk 677019, Sakha, Russia
The Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Lavrentyeva Ave. Novosibirsk 630090, Russia
Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark
Department of Anthropology, University of Kansas, Lawrence, Kansas 66045, USA
Novo Nordisk Foundation Center for Protein Research, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3A, DK-2200 Copenhagen, Denmark
These authors contributed equally to this work.
We report here the genome sequence of an ancient human. Obtained from ~4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20×, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.
