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

Abstract

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 presentday 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.

Tracing the genetic origin of Europe's first farmers reveals insights into their social organization

“…This scenario has recently been supported by Neolithic data from northern Spain [44] and southern France [45], which attested a pivotal role for G2a in the Neolithic expansion on the Mediterranean route. Furthermore, G2a has also been reported from four LBK individuals (G2a2a) [40] and the Tyrolean Iceman (G2a2a1b (L91)) [43]. Taken together, these findings suggest that sub-haplogroups of G2a were frequent in Neolithic populations of the sixth-fourth millennia BC across Europe.…”

“…Ancient genomic studies have described the early farmers as genetically most similar to extant populations of southern Europe [31,33,40,41]. Y chromosome data from prehistoric Europeans is still scarce but relevant for our study (electronic supplementary material, dataset S20), including hunter-gatherers [33][34][35]40,42], and early farmers from Germany [38,40], eastern Hungary [41], Austria [43] and southwest Europe [40,44,45].…”

Demographic Events and Evolutionary Forces Shaping European Genetic Diversity

“…Fortunately, the development of next-generation sequencing has been revolutionary for paleogenetics (Stoneking and Krause 2011). Whole genomes from a Neanderthal ) and other archaic humans (Reich et al 2010), as well as an approximately 4000-yearold Paleo-Eskimo from Greenland (Rasmussen et al 2010), have now been sequenced; very recently, we saw the publication of the complete genome of a human European mummy commonly referred to as the Tyrolean Iceman or "Ö tzi" (Keller et al 2012).…”

Integration of Heterogeneous Computing Infrastructures for Genome Sequencing Data Analysis

“…Исследователям удалось восстановить геномную информацию из самых разнообразных типов древнего биологического материала: волос [4,5], мумифицированных тканей [6], кальцинированных зубов и костей [7][8][9], а также растительных останков [10,11]. С появлением новых технических возможностей миллионы и миллиарды последовательностей ДНК могут быть получены из древних биологических образцов, благодаря массивной пропускной способности современных платформ для секвенирования следующего поколения.…”