New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

被引：271

作者：

Keller, Andreas ^{[2
,3
]}

Graefen, Angela ^{[1
]}

Ball, Markus ^{[4
]}

Matzas, Mark ^{[5
]}

Boisguerin, Valesca ^{[5
]}

Maixner, Frank ^{[1
]}

Leidinger, Petra ^{[2
]}

Backes, Christina ^{[2
]}

Khairat, Rabab ^{[4
]}

Forster, Michael ^{[6
]}

Stade, Bjoern ^{[6
]}

Franke, Andre ^{[6
]}

Mayer, Jens ^{[2
]}

Spangler, Jessica ^{[7
]}

McLaughlin, Stephen ^{[7
]}

Shah, Minita ^{[7
]}

Lee, Clarence ^{[7
]}

Harkins, Timothy T. ^{[7
]}

Sartori, Alexander ^{[7
]}

Moreno-Estrada, Andres ^{[8
]}

Henn, Brenna ^{[8
]}

Sikora, Martin ^{[8
]}

Semino, Ornella ^{[9
]}

Chiaroni, Jacques ^{[10
,11
]}

Rootsi, Siiri ^{[12
,13
]}

Myres, Natalie M. ^{[14
]}

Cabrera, Vicente M. ^{[15
]}

Underhill, Peter A. ^{[8
]}

Bustamante, Carlos D. ^{[8
]}

Vigl, Eduard Egarter ^{[16
]}

Samadelli, Marco ^{[1
]}

Cipollini, Giovanna ^{[1
]}

Haas, Jan ^{[17
]}

Katus, Hugo ^{[17
]}

O'Connor, Brian D. ^{[18
,19
]}

Carlson, Marc R. J. ^{[20
]}

Meder, Benjamin ^{[17
]}

Blin, Nikolaus ^{[4
,21
]}

Meese, Eckart ^{[2
]}

Pusch, Carsten M. ^{[4
]}

Zink, Albert ^{[1
]}

机构：

[1] EURAC Res, Inst Mummies & Iceman, I-39100 Bolzano, Italy

[2] Univ Saarland, Dept Human Genet, D-66421 Homburg, Germany

[3] Siemens Healthcare, D-91052 Erlangen, Germany

[4] Univ Tubingen, Div Mol Genet, Inst Human Genet, D-72074 Tubingen, Germany

[5] Febit Biomed GmbH, D-69120 Heidelberg, Germany

[6] Univ Kiel, Inst Clin Mol Biol, Kiel, Germany

[7] Life Technol, Genome Sequencing Collaborat Grp, Beverly, MA 01915 USA

[8] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

[9] Univ Pavia, Dipartimento Genet & Microbiol, I-27100 Pavia, Italy

[10] Univ Aix Marseille 2, Ctr Natl Rech Sci, Unite Mixte Rech 6578, F-13916 Marseille, France

[11] Univ Aix Marseille 2, Etablissement Francais Sang, Fac Med, F-13916 Marseille, France

[12] Univ Tartu, Dept Evolutionary Biol, EE-510101 Tartu, Estonia

[13] Estonian Bioctr, EE-510101 Tartu, Estonia

[14] Sorenson Mol Geneal Fdn, Salt Lake City, UT 84115 USA

[15] Univ La Laguna, Dept Genet, Fac Biol, Tenerife 38271, Spain

[16] Gen Hosp Bolzano, Dept Pathol Anat & Histol, I-39100 Bolzano, Italy

[17] Univ Heidelberg, Dept Internal Med 3, D-69120 Heidelberg, Germany

[18] Ontario Inst Canc Res, Toronto, ON M5G 0A3, Canada

[19] Nimbus Informat LLC, Carrboro, NC 27510 USA

[20] Fred Hutchinson Canc Res Ctr, Dept Computat Biol, Seattle, WA 98109 USA

[21] Wroclaw Med Univ, Dept Genet, PL-50368 Wroclaw, Poland

来源：

NATURE COMMUNICATIONS | 2012年 / 3卷

基金：

美国国家卫生研究院; 美国国家科学基金会;

关键词：

CORONARY-ARTERY-DISEASE; DNA-SEQUENCES; ANCIENT DNA; GENETIC-VARIATION; CHROMOSOME; 9P21; Y-CHROMOSOME; POPULATION; ATHEROSCLEROSIS; POLYMORPHISMS; HAPLOGROUP;

D O I：

10.1038/ncomms1701

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Otztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to similar to 60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.

引用

页数：9

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