Search Results (22)

Domestic cattle represent one of the most significant evolutionary successes in the history of human–animal mutualism. This review synthesizes evidence from paleogenomics and modern population genetics, particularly recent pangenome analyses, to reconstruct a comprehensive evolutionary trajectory of cattle. We outline the two domestication events: the emergence of taurine cattle (Bos taurus) in the Fertile Crescent (~10,500 years ago) and zebu cattle (Bos indicus) in the Indus Valley (~8000 years ago). Following domestication, cattle dispersed globally alongside human migration, resulting in a complex genetic mosaic shaped by introgression with wild relatives and extensive admixture between lineages. By integrating data from mitochondrial DNA, Y-chromosome haplotypes, and whole-genome sequencing of modern, ancient, and wild samples, we reconstruct the detailed global dispersal of cattle. Furthermore, we dissect the molecular mechanisms underlying phenotypic diversity, emphasizing how natural selection has driven environmental adaptation, how artificial selection has optimized production traits, and how the emerging bovine pangenome is unveiling “hidden” genetic variations critical for climate resilience and disease resistance. Ultimately, this review summarizes the origin, dispersal, and genomic diversity of cattle, offering vital insights for the conservation of indigenous genetic resources and the advancement of molecular breeding strategies in the face of a changing global climate. Full article

The Andalusian Black Cattle (Negra Andaluza) represents a genetic lineage linked to the ancient Eurasian aurochs, shaped by domestication events in the Near East and later introgressions from Italian and North African wild cattle. This study investigates the breed’s anthropological and historical origins, geographical distribution, and genetic structure. Key influences include historical use as draft animals, regional breeding preferences, and gene flow via transhumant routes. The genetic analysis reveals that Córdoba is the principal nucleus, accounting for 448 identified ancestors, compared to 252 in Huelva and 193 in Seville. In Córdoba, contributions of nodal ancestors through inbreeding loops reached a maximum of 0.0447, while mean inbreeding ($\overline{\mathrm{F}}$) was 0.000949 and mean coancestry ($\overline{\mathrm{C}}$) was 0.000475, indicating moderate but geographically structured genetic drift. In contrast, areas with better connectivity showed higher heterogeneity and lower inbreeding contributions. Canonical discriminant analysis (CDA) revealed that the first discriminant function (F1) explained 79.72% of the variation among groups, primarily driven by nodal ancestors and inbreeding loops. Despite these signs of inbreeding, historical transhumance has helped preserve overall genetic diversity. These findings offer essential insights for conservation programs aimed at maintaining both the genetic integrity and adaptive potential of this historically and culturally important breed. Full article

Ancient introgression is an infrequent evolutionary process often associated with conflicts between nuclear and organellar phylogenies. Determining whether such conflicts arise from introgression, incomplete lineage sorting (ILS), or other processes is essential to understanding plant diversification. Previous studies have reported phylogenetic discordance in the placement of Xanthoceras, but its causes remain unclear. Here, we analyzed transcriptome data from 41 Sapindaceae samples to reconstruct phylogenies and investigate this discordance. While nuclear phylogenies consistently placed Xanthoceras as sister to subfam. Hippocastanoideae, plastid data positioned it as the earliest-diverging lineage within Sapindaceae. Our coalescent simulations suggest that this cyto-nuclear discordance is unlikely to be explained by ILS alone. HyDe and PhyloNet analyses provided strong evidence that Xanthoceras experienced ancient introgression, incorporating approximately 16% of its genetic material from ancestral subfam. Sapindoideae lineages. Morphological traits further support this evolutionary history, reflecting characteristics of both contributing subfamilies. Likely occurring during the Paleogene, this introgression represents a rare instance of cross-subfamily gene flow shaping the evolutionary trajectory of a major plant lineage. Our findings clarify the evolutionary history of Xanthoceras and underscore the role of ancient introgression in driving phylogenetic conflicts, offering a rare example of introgression-driven diversification in angiosperms. Full article

Background/Objectives: Recent progress in evolutionary genomics on human (Homo sapiens) populations has revealed complex demographic events and genomic changes. These include population expansion with complicated migration, substantial population structure, and ancient introgression from other hominins, as well as human characteristics selections. Nevertheless, the genomic regions in which such evolutionary events took place have remained unclear. Methods: Here, we focused on eight loci containing the haplotypes that were previously presented as atypical for the mutation pattern in sequence and/or geographic distribution pattern with the model of recent African origin, which constitute two major clusters: African only, and global. This was the consensus model before information regarding introgression from Neanderthal (Homo neanderthalensis) was available. We compared diversity in identical datasets of the modern human population genome, with the 1000 Genomes project among them. Results/Conclusions: This study identified representative genomic regions that show traces of various demographic events and genomic changes that modern humans have undergone by categorizing the relationships in sequence similarity and in worldwide geographic distribution among haplotypes. Full article

The grapevine was one of the earliest domesticated fruit crops and has been cultivated since ancient times. It is considered one of the most important fruit crops worldwide for wine and table grape production. The current grape varieties are the outcome of prolonged selection initiated during the domestication process of their wild relative. Recent genetic studies have shed light on the origins of the modern domestic grapevine in western Europe, suggesting that its origin stems from the introgression between eastern domestic grapes and western wild grapes. However, the origin of ancient grapevines remains largely unexplored. In this study, we conducted an extensive analysis of 2228 well-preserved waterlogged archaeological grape pips from two sites in Sardinia (Italy), dated to the Late Bronze Age (ca. 1300–1100 BC) and the Iron Age (4th and 3rd centuries BC). Using morphometrics and linear discriminant analyses, we compared the archaeological grape pips with modern reference collections to differentiate between wild and domestic grape types and to investigate similarities with 330 modern cultivars. Grape pips from the Late Bronze Age displayed a high percentage of similarity with domesticated grapevines, with a small percentage assigned to wild ones, while the majority of grape pips from the Iron Age were classified as domestic. Discriminant analyses revealed that both white and red grape varieties were cultivated during the Late Bronze and Iron Ages, suggesting a high level of diversification in grape cultivation. Furthermore, a high percentage of archaeological grape pips from both periods showed strong similarities with modern cultivars from the Caucasus and Balkans. This suggests that the great diversity of grapevines present in Sardinia could result from interbreeding between western Asian cultivars and local grapevines that began in the Late Bronze Age. Additionally, a substantial proportion of archaeological grape pips exhibited similar morphometric characteristics to two important Mediterranean grape cultivars: “Muscat à petits grains blancs” and “Garnacha”. Full article

We performed next-generation sequencing of the 18S rDNA–ITS1–5.8S rDNA region along with traditional Sanger sequencing of rbcL, matK, ndhF, and ITS1–5.8S rDNA–ITS2 to clarify the hybridization pattern in the subtribe Alopecurinae and in the genus Alopecurus in particular. Our data support the hybrid origin of Alopecurus × brachystylus from hybridization between A. geniculatus (sect. Alopecurium) and A. pratensis (sect. Alopecurus). Moreover, in the rDNA of hybrid A. × brachystylus, only A. aequalis-like ribotypes from tetraploid A. geniculatus participated. Surprisingly, we found the traces of introgression of A. arundinaceus-like ribotypes not only in hybrid A. × marssonii (A. geniculatus × A. arundinaceus) but in A. aequalis s. str. as well. A high-polyploid group from the section Alopecurus, A. aggr. alpinus has undoubted hybrid origin: e. g., A. brachystachyus has rDNA from the sect. Alopecurium. Alopecurus alpinus, with its allies, is clearly distinct from other members of the sect. Alopecurus (especially by maternal line) and thus we can re-establish a previous opinion about the separate group to which A. alpinus belongs. Species from the section Colobachne (presumably Alpine grasses from Ancient Mediterranean region) probably hybridized with the A. alpinus group. Even A. myosuroides (sect. Pseudophalaris) that could be referred to the separate genus has ribotypes common with the species of the section Alopecurium (A. aequalis, A. geniculatus) in one of the accessions. Additionally, we found that the possible polyphyletic origin of the genus Limnas. Limnas stelleri is very close to Alopecurus magellanicus according to NGS data, while L. malyschevii is more or less distinct from other studied species of the genus Alopecurus. Full article

Evergreen sclerophyllous oak forests (ESOFs) in southwestern China are a special vegetation type developed in response to the expansion of arid habitats after the uplift of the Himalayas. Here, we used chloroplast (cp) DNA and nuclear ribosomal (nr) DNA to investigate the fine-scale genetic variation patterns of six sympatric oaks (Quercus, Fagaceae) in the hot-dry valley ESOFs of the Jinsha River, southwestern China. Three cp genomes were assembled for each species. Nine cp genome haplotypes and 16 nrDNA haplotypes were identified based on single-nucleotide variants and indels. Our results demonstrated that discordance existed between the cpDNA and nrDNA phylogenies of the sclerophyllous oaks in section Ilex. The nrDNA phylogeny was consistent with species boundaries, while the cpDNA phylogeny was decoupled from taxonomy. Interspecific sharing of closely related cp genome haplotypes was detected between Quercus cocciferoides and the other two sclerophyllous oaks, Q. longispica and Q. franchetii. Specifically, Q. cocciferoides and Q. longispica sampled in a mixed stand exhibited two haplotypes that differed by a 9 bp indel. The local distribution of the two highly similar haplotypes suggested that they may have arisen from ancient introgression. Given that the two species have diverged for a long time, it is possible that the ancestral cp genome of one species was captured by another species through asymmetric introgression in early times, and an indel event occurred subsequently. Phylogenetic analyses using more previously published cp genome sequences indicated that Q. cocciferoides and Q. franchetii shared multiple cpDNA lineages of Ilex oaks, which may be caused by shared ancestral polymorphism and/or ancient introgression. Our study showed that at least three highly variable regions (ψycf1, ndhF-rpl32, and trnK^UUU-rps16 or rpl32-trnL^UAG) can distinguish the nine haplotypes identified by whole-cp genome sequences. These markers are useful for the evolutionary studies of the maternal lineages of oaks in hot-dry valley ESOFs. Full article

Tomato landraces have progressively faded into obscurity, making way for new hybrids and elite tomato cultivars. This study presents a comprehensive evaluation of the agronomic attributes, physicochemical properties, and functional traits across seven cultivars, comprising two high-pigment varieties, ‘HLT−F81’ and ‘HLT−F82’, as well as five underutilized ancient-tomato genotypes considered as landraces. Most of the studied genotypes exhibited satisfactory horticultural and processing traits. The average fruit weight ranged from 73.3 g in ‘Rimone’ to 91.83 g in ‘HLT−F81’, while the soluble solids content ranged from 4.66 °Brix in ‘Justar’ to 6.08 °Brix in ‘HLT−F81’. The functional quality and the content of most antioxidants, as well as the antioxidant activity in both hydrophilic and lipophilic fractions, proved to be the most discriminating parameters among the tomato genotypes. The content of β−carotene and lycopene spanned from 2.94 mg kg⁻¹ fw in ‘Rio Grande’ to 13.94 mg kg⁻¹ fw in ‘HLT−F82’ and 227.8 mg kg⁻¹ fw in ‘HLT−F81’, yielding large variations compared to ‘Rio Grande’. The total phenolic content ranged from 139.83 mg GAE kg⁻¹ fw in ‘Rimone’ to 352.41 mg GAE kg⁻¹ fw in ‘HLT-F81’, while the flavonoid content varied from 136.16 mg RE kg⁻¹ fw in ‘Justar’ to 311.23 mg RE kg⁻¹ fw in ‘HLT-F82’. The presence of tocopherol isomers was genotype-dependent, with a higher content in lines carrying the high-pigment mutations. Among the tested tomato genotypes, the high-pigment tomato line ‘HLT−F81’ achieved the highest hydrophilic and lipophilic antioxidant activity values. This study primarily focused on the recovery and valorization of tomato genetic resources and landraces. It also aimed to identify desirable horticultural (yield, low-input, and low-water demand), processing (°Brix and titratable acidity), and quality (rich antioxidant berries) traits for introgression into new tomato cultivars better suited to the evolving climate conditions of the near future. Full article

Saliva houses over 2000 proteins and peptides with poorly clarified functions, including proline-rich proteins, statherin, P-B peptides, histatins, cystatins, and amylases. Their genes are poorly conserved across related species, reflecting an evolutionary adaptation. We searched the nucleotide substitutions fixed in these salivary proteins’ gene loci in modern humans compared with ancient hominins. We mapped 3472 sequence variants/nucleotide substitutions in coding, noncoding, and 5′-3′ untranslated regions. Despite most of the detected variations being within noncoding regions, the frequency of coding variations was far higher than the general rate found throughout the genome. Among the various missense substitutions, specific substitutions detected in PRB1 and PRB2 genes were responsible for the introduction/abrogation of consensus sequences recognized by convertase enzymes that cleave the protein precursors. Overall, these changes that occurred during the recent human evolution might have generated novel functional features and/or different expression ratios among the various components of the salivary proteome. This may have influenced the homeostasis of the oral cavity environment, possibly conditioning the eating habits of modern humans. However, fixed nucleotide changes in modern humans represented only 7.3% of all the substitutions reported in this study, and no signs of evolutionary pressure or adaptative introgression from archaic hominins were found on the tested genes. Full article

Frike is an ancient and traditional food product prepared from early harvested whole wheat grain, particularly durum wheat (DW). Due to its many health beneficial effects, frike is considered a functional food. It is also a lucrative commodity, produced in various West Asian and North African countries and typically in Southeastern Turkey. However, no systematic assessment of the most-suitable genotypes for frike production in the region is available. This study aimed to carry out such an evaluation, based on frike yield, quality traits, marketing price, and profitability, on a set of 20 DW cultivars and DW-Thinopyrum ponticum introgression lines (ILs). The results based on a field trial performed in Gölbaşı (Adıyaman, Turkey) in the 2021–2022 season revealed the Turkish varieties Tüten-2002, Edessa, Artuklu, and Perre, together with the R5 IL to have the highest frike yields measured on 3 kg of roasted fresh spikes. The highest marketing prices were obtained by Turkish varieties Sariçanak-98, Burgos, Sümerli, and Artuklu, along with the R112 IL, excelling in quality traits. Considering all parameters, the Turkish cultivars Artuklu, Firat-93, and Sariçanak-98, besides the R112 IL, resulted in being the most-convenient genotypes for frike making, thus representing good candidates for maintaining cultural and genetic diversity in food production from a staple crop such as DW. Full article

The genus Nuphar (Nymphaeaceae) comprises aquatic plant species inhabiting freshwater bodies of the Northern hemisphere temperate regions known as yellow water-lilies. Nuphar lutea and N. pumila are the only representatives in the European continent and present different ecologies: the former is a widespread generalist, while the latter is restricted to northern latitudes or high-altitudes due to its requirements for colder and oligotrophic waters. The Central Europe mountainous areas, the Massif Central (France) and the Cantabrian Mountains (north Iberian Peninsula) harbor relict isolated N. pumila populations endangered by eutrophication and hybridization with N. lutea. We aim to detect hybridization processes in the Massif Central and Cantabrian Mountains populations and compare the genetic diversity of N. pumila in the relict populations of Central Europe by using microsatellite (SSR) markers. No evidence of hybridization was found in the Iberian population, whereas the admixture between N. pumila and N. lutea in the Massif Central populations could be due to hybridization or ancient introgression. Our current knowledge would benefit from genetic diversity studies focusing on both species throughout their distributional range. The Iberian and Massif Central N. pumila populations were genetically distinct, representing two different clusters from other relict populations, with low genetic diversity and a genetic boundary within Central Europe. Full article

Ancient anatomically modern humans (AMHs) encountered other archaic human species, most notably Neanderthals and Denisovans, when they left Africa and spread across Europe and Asia ~60,000 years ago. They interbred with them, and modern human genomes retain DNA inherited from these interbreeding events. High quality (high coverage) ancient human genomes have recently been sequenced allowing for a direct estimation of individual heterozygosity, which has shown that genetic diversity in these archaic human groups was very low, indicating low population sizes. In this study, we analyze ten ancient human genome-wide data, including four sequenced with high-coverage. We screened these ancient genome-wide data for pathogenic mutations associated with monogenic diseases, and established unusual aggregation of pathogenic mutations in individual subjects, including quadruple homozygous cases of pathogenic variants in the PAH gene associated with the condition phenylketonuria in a ~120,000 years old Neanderthal. Such aggregation of pathogenic mutations is extremely rare in contemporary populations, and their existence in ancient humans could be explained by less significant clinical manifestations coupled with small community sizes, leading to higher inbreeding levels. Our results suggest that pathogenic variants associated with rare diseases might be the result of introgression from other archaic human species, and archaic admixture thus could have influenced disease risk in modern humans. Full article

The genus Pseudoroegneria (Nevski) Löve (Triticeae, Poaceae) with its genome abbreviated ‘St’ accounts for more than 60% of perennial Triticeae species. The diploid species Psudoroegneria libanotica (2n = 14) contains the most ancient St genome. Therefore, investigating its chromosomes could provide some fundamental information required for subsequent studies of St genome evolution. Here, 24 wheat cDNA probes covering seven chromosome groups were mapped in P. libanotica to distinguish homoelogous chromosomes, and newly identified tandem repeats were performed to differentiate seven chromosome pairs. Using these probes, we investigated intraspecific population chromosomal polymorphism of P. libanotica. We found that (i) a duplicated fragment of the 5St long arm was inserted into the short arm of 2St; (ii) asymmetrical fluorescence in situ hybridization (FISH) hybridization signals among 2St, 5St, and 7St homologous chromosome pairs; and (iii) intraspecific population of polymorphism in P. libanotica. These observations established the integrated molecular karyotype of P. libanotica. Moreover, we suggested heterozygosity due to outcrossing habit and adaptation to the local climate of P. libanotica. Specifically, the generated STlib_96 and STlib_98 repeats showed no cross-hybridization signals with wheat chromosomes, suggesting that they are valuable for identifying alien chromosomes or introgressed fragments of wild relatives in wheat. Full article

Ancient DNA from, Neandertal and modern human fossils, and comparative morphological analyses of them, reveal a complex history of interbreeding between these lineages and the introgression of Neandertal genes into modern human genomes. Despite substantial increases in our knowledge of these events, the timing and geographic location of hybridization events remain unclear. Six measures of facial size and shape, from regional samples of Neandertals and early modern humans, were used in a multivariate exploratory analysis to try to identify regions in which early modern human facial morphology was more similar to that of Neandertals, which might thus represent regions of greater introgression of Neandertal genes. The results of canonical variates analysis and hierarchical cluster analysis suggest important affinities in facial morphology between both Middle and Upper Paleolithic early modern humans of the Near East with Neandertals, highlighting the importance of this region for interbreeding between the two lineages. Full article

Retroelement insertions (RIs) are low-homoplasy characters that are ideal data for addressing deep evolutionary radiations, where gene tree reconstruction errors can severely hinder phylogenetic inference with DNA and protein sequence data. Phylogenomic studies of Neoaves, a large clade of birds (>9000 species) that first diversified near the Cretaceous–Paleogene boundary, have yielded an array of robustly supported, contradictory relationships among deep lineages. Here, we reanalyzed a large RI matrix for birds using recently proposed quartet-based coalescent methods that enable inference of large species trees including branch lengths in coalescent units, clade-support, statistical tests for gene flow, and combined analysis with DNA-sequence-based gene trees. Genome-scale coalescent analyses revealed extremely short branches at the base of Neoaves, meager branch support, and limited congruence with previous work at the most challenging nodes. Despite widespread topological conflicts with DNA-sequence-based trees, combined analyses of RIs with thousands of gene trees show emergent support for multiple higher-level clades (Columbea, Passerea, Columbimorphae, Otidimorphae, Phaethoquornithes). RIs express asymmetrical support for deep relationships within the subclade Afroaves that hints at ancient gene flow involving the owl lineage (Strigiformes). Because DNA-sequence data are challenged by gene tree-reconstruction error, analysis of RIs represents one approach for improving gene tree-based methods when divergences are deep, internodes are short, terminal branches are long, and introgressive hybridization further confounds species–tree inference. Full article