discovery keep pouring in aboutÖtzi , our favorite Copper Age mummy , distinguish us more about the Alpine Iceman than perhaps he even cognise himself . But although his genome has been extensively poke into , there has been an important interrogative sentence that scientists struggle to get to the bottom of : What happened to his mother ’s genetic line ?
According tonew enquiry , while that of his father survive today , his maternal descent is now extinct . This offers us novel perceptiveness not only into his heritage but also the demographic changes that occurred in Europe some 5,000 years ago .
“ We know quite a scrap about Ötzi ’s paternal lineage already , ” lead author Valentina Coia told IFLScience . “ The point of this study was to reanalyze his mitochondrial desoxyribonucleic acid and compare this with modern universe . ”
Mitochondrial DNA ( mtDNA ) is sometimes refer to as our “ second genome , ” and unlike the DNA lesion into our chromosomes , it ’s only passed down the distaff production line . Earlier analysis of the mummy ’s whole genome discover that his Y chromosome , only inherit from father , shows exonerated links with modern - twenty-four hour period universe . But when his mtDNA was analyzed , scientists found that his mitochondrial haplogroup – basically a population sharing a common ancestor , in this case down the paternal cable – was unlike to any see so far in be individuals .
This was an interesting find , as it could suggest that Ötzi ’s enate line is no longer in existence . However , at the time , data regarding the haplogroup from which Ötzi ’s was thought to have branched off from – K1 – was scarce , mean few samples were available for comparability . significantly , only a few of the samples were from Europe , and none from the easterly Alps , which was where the 5,300 - year - old Iceman was discovered .
“ We therefore want to analyze more sample in monastic order to really understand the paternal line , ” Coia said . “ Could we not come up this lineage because it is no longer present , or because of the small bit of individual investigated ? ”
Ötzi , pictured , also has 61 tattoos . South Tyrol Museum of Archaeology / Eurac / Samadelli / Staschitz
Published inScientific Reports , Coia and fellow found at the European Academy of Bolzano / Bozen gathered a large oecumenical dataset consisting of 1,077 haplogroup K1 mortal , including 42 that originated from the eastern Alps . After comparing his mtDNA with these samples , the research worker could not find any evidence for the existence of his mtDNA lineage in present - day populations , indicating it is either extinct today or super rare .
So what go on to this lineage , but not his paternal line ? In an attack to find out , the team compared both Ötzi ’s mtDNA and Y chromosome with data available from ancient samples recover from 14 dissimilar sites across Europe . This revealed that while his yttrium - chromosome line was the prevailing lineage in these Neolithic samples , the parental lineage was far less plebeian during this ancient fourth dimension , and likely only existed topically in the Alps .
The squad therefore puts forward a scenario in which population expansion and large migration into Europe around 5,000 years ago importantly altered the genetic structure of this region . So while his scarce parental haplotype was finally replaced by that of neophyte , his parental line hold up in isolate populations , such as those in Sardinia , and thus still exists today .
