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Research Publication

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

Keller A, Graefen A, Ball M et al.

22426219 PubMed ID
42 Authors
02/28/2012 Published
2 Samples
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KA
Keller A
GA
Graefen A
BM
Ball M
MM
Matzas M
BV
Boisguerin V
MF
Maixner F
LP
Leidinger P
BC
Backes C
KR
Khairat R
FM
Forster M
SB
Stade B
FA
Franke A
MJ
Mayer J
SJ
Spangler J
MS
McLaughlin S
SM
Shah M
LC
Lee C
HT
Harkins TT
SA
Sartori A
MA
Moreno-Estrada A
HB
Henn B
SM
Sikora M
SO
Semino O
CJ
Chiaroni J
RS
Rootsi S
MN
Myres NM
CV
Cabrera VM
UP
Underhill PA
BC
Bustamante CD
VE
Vigl EE
SM
Samadelli M
CG
Cipollini G
HJ
Haas J
KH
Katus H
O
O&#x27
CB
Connor BD
CM
Carlson MR
MB
Meder B
BN
Blin N
ME
Meese E
PC
Pusch CM
ZA
Zink A
Chapter II

Abstract

Summary of the research findings

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 Ötztal 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 ~60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.

Chapter III

Ancient DNA Samples

2 ancient DNA samples referenced in this publication

2 Samples
Sample ID Date/Era Country Locality Sex mtDNA Y-DNA
Iceman 3486 BCE Italy Trentino-South Tyrol. Oetz valley M K1f G-FGC5672
Iceman 3486 BCE Italy Trentino-South Tyrol. Oetz valley M K1f G-FGC5672
Chapter IV

Analysis

Comprehensive review of ancestry and genetic findings

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Summary

Key Findings

Ancestry Insights

Traits Analysis

Historical Context

Scientific Assessment