Using advanced supercomputers, researchers have looked into the genes of Lithuanians and found they have much in common with ancient peoples and even Neanderthals.
“What we have found is that Lithuanians are one of the few peoples who have preserved the European gene pool,” Alina Urnikytė, researcher at Vilnius University, said in a press release by the university.
According to her, researchers long thought there were only two “unique” groups of people left in Europe: the Basques and the Sardinians. “So now we can add Lithuanians to the list,” she said.
The researchers found that Lithuanians had some of the largest genetic footprint of European hunter-gatherers, which are usually found in closed populations living in mountainous areas or on islands.
In Lithuania, the population has retained its uniqueness not only for natural, but also for cultural reasons.
“Both Basques and Lithuanians have retained their uniqueness by being surrounded by other peoples. So not only geography, but also the worldview of the inhabitants had a huge impact,” she said. “It was only after the last ice age [...] that favourable living conditions emerged in Lithuania, which was also heavily forested and swampy, so movement was limited by the land’s natural conditions.”
Going back to ancient peoples
By comparing the genomes of today’s Lithuanians with those of Neanderthals and other ancient peoples, researchers at Vilnius University were able to explain the origins of the Lithuanian physical features, metabolism and immunity.
“When we talk about archaic genomes, we are talking about the genomes of Neanderthal and Denisovan man, which are more than 40,000 years old. We are also making comparisons with ancient human genomes, which are between 200 and several thousand years old,” said Urnikytė.
Big data gathered during the research process requires supercomputers to analyse.
“As an example, 75 genomes take up several terabytes of memory. To work with this data, you need to master bioinformatics tools and also know how to programme,” said Urnikytė.
She and her colleagues are investigating how the Lithuanian genome has changed over generations. For the first time, Urnikytė and her team have managed to sequence the entire genome.
“It is very important to know which areas of the genome are under natural selection, because we can find the parts of the genome that are responsible for traits, phenotypes, or certain diseases, and then we can identify the traits that are growing in a population. This is very important because it can be used in personalised medicine,” she said.
Lithuanian genes showed they had adapted to fight infectious diseases.
The researchers identified HLA-DRB1, a human leukocyte antigen gene involved in acquired immunity reactions and in clearing infection, as a highly potent gene.
“Natural selection is very ‘clever’, as it eliminates gene variants that are not useful. So these surviving genomic variants were in one way or another useful to us, precisely to adapt to local pathogens,” she added.
They also discovered another gene left by the Neanderthals – BNC2, which is responsible for skin pigmentation and hair structure.
This gene is found throughout Eurasia, so depending on its expression, it can lead to both light and dark skin colour.
“As modern humans migrated northwards towards colder climates, it was advantageous for them to have fair skin, as it allows vitamin D to penetrate better. It is not the only gene responsible for our fair skin and blue eyes, but one of these gene variants is found in the Lithuanian population at a much higher frequency than in other European populations,” said Urnikytė.
Urnikytė and her team have identified characteristics that have been influenced by natural selection for 250,000 years. She compared this data with the genome of the three generations of Lithuanians living today and identified eight genetic regions that have been repeated across the three generations.
“One of those regions includes two genes, PNLIP and PNLIPRP3. These genes are responsible for the breakdown of fats and for metabolism,” she said.
“These genes were, and still are, most likely responsible for adaptation to a particular diet. It is very possible that these genes come from the hunter-gatherer days when meat and oily fish were staple foods, and the body had to adapt to these foods,” Urnikytė added.
“Interestingly, these signals are still very strongly expressed in our population today. This is probably one of the reasons why Lithuanians not only like but are also able to digest cepelinai [dumplings] with bacon,” she smiled.
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