Ancient DNA reveals male diffusion through the Neolithic Mediterranean route

Abstract

The Neolithic is a key period in the history of the European settlement. Although archaeological and present-day genetic data suggest several hypotheses regarding the human migration patterns at this period, validation of these hypotheses with the use of ancient genetic data has been limited. In this context, we studied DNA extracted from 53 individuals buried in a necropolis used by a French local community 5,000 y ago. The relatively good DNA preservation of the samples allowed us to obtain autosomal, Y-chromosomal, and/or mtDNA data for 29 of the 53 samples studied. From these datasets, we established close parental relationships within the necropolis and determined maternal and paternal lineages as well as the absence of an allele associated with lactase persistence, probably carried by Neolithic cultures of central Europe. Our study provides an integrative view of the genetic past in southern France at the end of the Neolithic period. Furthermore, the Y-haplotype lineages characterized and the study of their current repartition in European populations confirm a greater influence of the Mediterranean than the Central European route in the peopling of southern Europe during the Neolithic transition.

Mitochondrial haplogroup C in ancient mitochondrial DNA from Ukraine extends the presence of East Eurasian genetic lineages in Neolithic Central and Eastern Europe

“…7,8 Two specimens were designated as members of haplogroup H, two were members of the U clade and three shared the 16223-16298-16327 HVS1 sequence motif characteristic of the root sequence of haplogroup C. 9,10 Specimen Ya34 carried a transition at 16357, characteristic of the C4a2 subbranch of the C clade. 10 While the majority of mtDNA lineages found in the Neolithic remains from the NPR can be ascribed to the haplogroups of West Eurasian origin and are in agreement with those previously reported for prehistoric haplogroups in West Eurasia, [11][12][13][14][15][16][17][18] our finding of East Eurasian lineages is uncommon in ancient European remains and has only been observed in the neighboring populations of the Carpathian Mountains. 19,20 Haplogroup C is a derivative of the M8 subclade of the Asianspecific M clade.…”

Low prevalence of lactase persistence in Neolithic South-West Europe

“…As a consequence, the frequency of lactase persistence has increased rapidly in the generations to follow. This hypothesis has been described in literature as the 'culture-historical hypothesis' 7,8 and has been supported by recent studies in the Neolithic samples from Central, Mediterranean and Northern Europe [9][10][11] and medieval samples from Central Europe. 3 Burger et al 9 reported the absence of lactase persistence in a total number of nine early Neolithic Central Europeans (7500 YBP), which argues that in this era Europeans were predominantly lactase deficient in adulthood.…”

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

“…This is predominately based on a high number of lineages attributed to the 'Neolithic package' and low frequencies of hunter-gatherers lineages, which clearly distinguish the cluster of farmers not only from hunter-gatherers of Central/North [28 -30,41] and southwestern Europe [32, 47,48], but also from Neolithic Iberian populations [44,45,47,48,50] and Central European cultures of the third/second millennia BC [39,49,51]. To exclude biases induced by potential maternal kinship within the prehistoric datasets, we also performed PCA and MDS with reduced datasets, excluding haplotypes with identical HVS-I and II sequences from the same site.…”

“…Genetic studies on modern-day populations have discussed haplogroup G [25,65] and its subgroup G2a as potential representatives of the spread of farming from the Near East to Europe [26]. 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].…”

“…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].…”