Miguel A. Alfonso Sanchez

Background/Objectives: The Bedouins (nomads) and the Fellahin (farmers) of Jordan represent two distinct subpopulations, characterized by unique lifestyles, settlement patterns, and linguistic features. This study aims to estimate the frequency of 27 Y-STRs in these two Jordanian subpopulations, along with various forensic parameters and paternal lineage comparisons with neighboring populations. Methods: Twenty-seven Y-STRs were typed in two major Jordanian subpopulations: Bedouin nomads (n = 101) and Fellahin farmers (n = 98). The forensic and paternal genetic lineage parameters and Y-haplogroup predictions were estimated. In addition, we conducted multidimensional scaling (MDS) and centroid analyses based on the Fst distance matrix to compare the sampled communities with neighboring populations from the MENA region, East Africa, Southeast Europe, and South Asia. Results: The Y-haplogroup predictions revealed differences in the predicted lineage composition based on the Y-STR profiles. The predicted J1a2a1a2 haplogroup predominated among the Bedouins (74.3%), whereas the Fellahin displayed a more heterogeneous profile, with notable frequencies of J1 (40%) and J2 (17.3%). Furthermore, the Fellahin exhibited remarkable genetic diversity and significant gene flow, providing plausible evidence of kinship with neighboring Levantine and Arabian groups. In contrast, the Bedouins showed consistently lower diversity across multiple loci, indicating long-term tribal isolation and, therefore, the potential effects of genetic drift. The MDS and centroid analyses positioned the Fellahin among the genetically interconnected Middle Eastern populations, while the Bedouins were clustered with the Arabian Peninsula populations. Conclusions: Overall, the contrasting genetic signatures of the two Jordanian subpopulations reflect their settlement patterns and sociocultural practices. In addition, the Y-STR dataset generated in this study enhances the Jordanian forensic database and to extends our understanding of paternal lineage structures in the West Asian/Levantine region.

The chromosomal region 17q21.31 harbors a 900 kb inversion polymorphism named after the microtubule-associated protein tau (MAPT) gene. Since no recombination occurs, two haplotypes are recognized: a directly oriented variant (H1) and an inverted variant (H2). The H2 haplotype features a distribution pattern with high frequencies in the Near East and Europe, medium levels in South Asia and North Africa, and low levels elsewhere. Studies of this genomic region are relevant owing to its likely association with numerous neurodegenerative diseases. However, the causes underlying the geographic distribution of the haplotype frequencies remain a bone of contention among researchers. With this work, we have intended to outline a plausible hypothesis on the origin of the high European H2 frequencies. To that end, we have analyzed an extensive population database (including three new Iberian populations) to explore potential clinal variations of H2 frequencies. We found a sigmoidal frequency cline with an upward trend from South Asia to Europe. The maximum value was detected in the Basques from Gipuzkoa province (0.494) with the curve’s inflection point in the Near East. From our results, we suggest that the most likely scenario for high H2 frequencies in Europe would be a founding event in the Near East during the late Paleolithic or early Neolithic. Subsequently, such H2 overrepresentation would have reached Europe with the arrival of the first Neolithic farmers. The current frequencies and geographic distribution of the 17q21.31 inversion suggest that the founding events mainly affected the H2D subhaplotype.

The accurate determination of the spatial trends on the variability of a species’ gene pool is essential to elucidate the underlying demographic-evolutionary events, thus helping to unravel the microevolutionary history of the population under study. Herein we present a new software called GenoCline, mainly addressed to detect genetic clines from allele, haplotype, and genome-wide data. This program package allows identifying the geographic orientation of clinal genetic variation through a system of iterative rotation of a virtual coordinate axis. Besides, GenoCline can perform complementary analyses to explore the potential origin of the genetic clines observed, including spatial autocorrelation, isolation by distance, centroid method, multidimensional scaling and Sammon projection. Among the advantages of this software is the ease in data entry and potential interconnection with other programs. Genetic and geographic data can be entered in spreadsheet table formatting (.xls), whereas genome-wide data can be imported in Eigensoft format. Genetic frequencies can also be exported in a format compatible with other programs dealing with population genetic and evolutionary biology analyses. All illustrations of results are saved in.svg format so that there will be high quality and easily editable vectorial graphs available for the researcher. Being implemented in Java, GenoCline is highly portable, thus working in different operating systems.

Frequencies of H1 and H2 haplotypes of the microtubule-associated protein tau (MAPT) gene were examined in two Jordanian samples. The criterion for haplotype assignment was the presence/absence of the intronic 238-bp deletion, located between exons 9 and 10 of the MAPT genomic region. We further compiled MAPT haplotype frequencies in Middle Eastern, South Asian, and European populations to widen the scope of analyses. Jordan MAPT*H2 haplotype frequencies peaked among worldwide samples analysed to date, with the Jordan general population featuring the top value (0.386). AMOVA tests results indicated spatial genetic structuring, as they unveiled significant differences in H2 frequencies between South Asia and Europe, with a hypothetical contact zone in the Middle East. The southeastern region of the Middle East shares low H2 frequencies with South Asia, while the northwestern area shows high H2 frequencies, similar to and even higher than observed in Europe. We suggest that high H2 frequencies could have originated at the beginning of the Neolithic in the western region of the Middle East, most likely through genetic drift episodes associated with founding events. Subsequently, the arrival of Neolithic farmers boosted the H2 haplotype spreading throughout Europe.

Objectives: This study aimed to explore the diversity of paternal lineages in Jujuy province (Argentina) by analyzing Y chromosome markers. Furthermore, we examined among‐population genetic variability based both on paternally (NRY haplotypes) and maternally (mtDNA haplogroups) inherited markers. We sought to evaluate the impact of sex‐biased gene flow on genetic background in Jujuy, and contribute data on the microevolutionary forces acting in this zone.Methods: DNA from 149 males from five Jujuy regions were analyzed for 12 non‐recombining Y (NRY) markers. Genetic heterogeneity among Jujuy regions was evaluated through population differentiation tests. To identify potential genetic boundaries in Jujuy, analysis of molecular variance (AMOVA) and the Monmonier's algorithm implemented in the Barrier v2.2 software were employed.Results: A clear divergence between Jujuy highlands and lowlands for NRY haplotypes was found. A marked discrepancy between genetic structuring for paternal lineages and the lack of geographical pattern for mitogenomes was confirmed by all statistical analyses.Conclusions: Genetic structuring of paternal lineages is most likely caused by admixture processes that have occurred since colonial times in the Jujuy lowlands. Immigrants were predominantly male that settled in the lower altitude zones, due to the steep orography of the region. Input of allochthonous male lineages because of gene flow toward the lowlands would have increased diversity of NRY markers, thus compensating for drift effects. Likewise, limited input of allochthonous mitogenomes would have promoted genetic drift, a key factor in the shaping of diversity of maternal lineages across Jujuy subpopulations, irrespective of altitude.

This study describes autosomal STR profiles of the populations of South and North Afghanistan. A total of 188 unrelated individuals residing north (n = 42) and south (n = 146) of the Hindu Kush Range within the territory of Afghanistan were examined against the background of 54 geographically targeted reference populations from Eurasia and North East Africa. The main objective of this study was to investigate longitudinal gene flow across the Hindu Kush Range and Eurasia. Genetic differentiation tests between North and South Afghanistan generated insignificant genetic differences for all loci. Multidimensional scaling (MDS) plots based on Fst distances and Neighbor-Joining (N-J) analysis indicated genetic affinities between the Afghani groups and Indian/Near East/West Asian populations. Admixture and Structure analyses demonstrate a gradient of genetic continuity within a major east to west cline that includes North and South Afghanistan as intermediate populations. Overall, although Afghanistan is surrounded by a number of natural barriers, instead of an isolated territory, it has been a genetically porous region providing a migrational nexus to the rest of Eurasia.