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Genetic history of Scythia

PRJNA1145302 Original Paper / DOI2025-07-23131 samples (study)

AI interpretationAI-generated

Ancient DNA reveals Scythians' diverse roots and a lasting fructose intolerance mutation.

A new study used 131 ancient genomes from the Black Sea to the Middle Don to uncover Scythian genetic history. Scythians had diverse origins, mainly from European Bronze Age groups, with traces of later migrations. Elites were often closely related, and clans practiced substantial endogamy. Surprisingly, they carried a harmful fructose intolerance mutation that later spread across West Eurasia and is now the most common cause of fructose intolerance in Europeans.

Sample interpretation

The study analyzed 131 ancient individuals, with 166 site samples in total. Y-chromosome data resolved 60 samples, dominated by R-L51 (6), I-Y8542 (6), and R-BY87922 (5). Mitochondrial DNA showed X4 (10), H1b2 (5), and K1b1 (5) as most frequent. Cultures included Scythian groups (e.g., Scy_Major, n=26) and neighboring Bronze/Iron Age cultures like Srubnaya and Meotian. Key sites were Scy_Major (45) and Scy_Major_Fam (16).

For genealogy enthusiasts

For ancestry enthusiasts, this study shows Scythians were genetically diverse, not a single homogeneous group. The R-L51 Y-lineage links some Scythians to wider European paternal roots. The fructose intolerance mutation highlights how ancient populations can leave lasting health legacies in modern Europeans.

Abstract

Great Scythia was the ancient Greek name for the area stretching from the northern Black Sea coast to the Middle Don. Using high-quality genomic data generated from 131 ancient individuals from Great Scythia and neighboring regions of the Bronze Age and the Iron Age, we established the genetic structure of the Scythians, revealing their diverse origin with major European Bronze Age ancestral components, and genetic traces of migration and invasions. We uncovered relationships between Scythians, including elite Scythians. Substantial endogamy in the Scythian clan was found. We examined Scythians’ phenotypes and medical-genetic background and found a harmful gene mutation causing fructose intolerance. This ancient “Scythian” mutation has spread throughout West Eurasia and has become the most prevalent genetic cause of fructose intolerance in contemporary European populations.

Samples & Data on TheYtree

166samples on site
60Y haplogroup resolved
25archaeological sites

Sample Map

Map tiles by TheYtree · dot size = number of samples

Paternal (Y-DNA) Haplogroups

HaplogroupSamples
R-L51 6
I-Y8542 6
R-BY87922 5
R-Z2123 3
R-Y2631 3
R-Y2 2
J-Y5345 2
R-Y53 2
N-CTS10336 1
R-PF6162 1
R-S14328 1
J-F4326 1

Maternal (mtDNA) Haplogroups

Sample Highlights More samples →

SampleY-DNAmtDNACulture / Period
AS33 J-Y5345 H2b Scythian· 4th century BC
AS40 R-L51 T1a1-a Scy_Crimea Scythian· 4th century BC
AB105 R-Z2106 H8b Stavropol_IA Early Alan· 3rd - 4th centuries AD,132-329 calAD
AB109 R-M417 C4a1 Stavropol_IA Sarmatian· 3rd - 1st centuries BC,402-212 calBC
AB126 N-CTS10336 K1c1e Pyanoborskaya Pyanoborskaya· 2nd century BC – 2nd century AD,196 calBC - 56 calAD
AB127 N-M2019 H10e2 Pyanoborskaya Pyanoborskaya· 2nd century BC – 2nd century AD
AB132 N-Z1979 G2a1 Pyanoborskaya Pyanoborskaya· 3rd century BC – 2nd century AD
AS10 R-Z35 U3b1b Scy_Crimea Late Scythian· 1st century AD
AS11 J-L210 N1a1b Scy_Crimea Late Scythian· the second half of the 2nd century BC
AS13 I-S9952 HV-T16311C! Scy_West Late Scythian· 2nd - the first half of the 1st centuries BC