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Corrosion of carbon steel rebar in concrete structures, such as highway bridges and buildings, has a direct impact on their structural integrity since the rebar provides the tensile strength within the structure. Rebar strength depends on the remaining effective radius of a given rod. Long-time decay up to 0.1 s, in the transient response of pulsed eddy current (PEC), was examined as a potential method to quantify general corrosion in ferromagnetic rebar. The transient response of a coaxial solenoidal drive–receive coil pair, oriented parallel to the rebar axis, was analyzed over a range of distances into the concrete (liftoff) and rebar radii. At long times, the single exponential decay constant was largely independent of liftoff. A power law relationship for the characteristic decay time, consistent with long-time diffusion of electromagnetic fields into a rod, was observed. The intercept of a best-fit line to measured voltage decay decreased exponentially with liftoff and maintained a measurable response up to 110 mm distance for a 25 mm (1 in.) diameter rebar. This exponential decay was present in 22 mm (7/8 in.), 19 mm (3/4 in.), and 15 mm (5/8 in.) samples as well. Reported results demonstrate the potential for PEC to quantify remaining cross-sectional area of rebar in concrete structures.

The use of eddy current (EC) arrays to detect damage in sandwich panels, such as disbonding of the carbon fiber reinforced polymer (CFRP) face-sheet to the core, is investigated. It is shown that the array is very sensitive to slight core crush and can readily find small dents and disbonds. At the same time, the eddy current array can look much deeper into the honeycomb to detect defects such as tears. The phase map of the EC signal can be used in some cases to distinguish between different types of damage. EC arrays offer the ability to rapidly scan large areas of CFRP panels.

The extent to which prehistoric migrations of farmers influenced the genetic pool of western North Africans remains unclear. Archaeological evidence suggests the Neolithization process may have happened through the adoption of innovations by local Epipaleolithic communities, or by demic diffusion from the Eastern Mediterranean shores or Iberia. Here, we present the first analysis of individuals’ genome sequences from early and late Neolithic sites in Morocco, as well as Early Neolithic individuals from southern Iberia. We show that Early Neolithic Moroccans are distinct from any other reported ancient individuals and possess an endemic element retained in present-day Maghrebi populations, confirming a long-term genetic continuity in the region. Among ancient populations, Early Neolithic Moroccans are distantly related to Levantine Natufian hunter-gatherers (∼9,000 BCE) and Pre-Pottery Neolithic farmers (∼6,500 BCE). Although an expansion in Early Neolithic times is also plausible, the high divergence observed in Early Neolithic Moroccans suggests a long-term isolation and an early arrival in North Africa for this population. This scenario is consistent with early Neolithic traditions in North Africa deriving from Epipaleolithic communities who adopted certain innovations from neighbouring populations. Late Neolithic (∼3,000 BCE) Moroccans, in contrast, share an Iberian component, supporting theories of trans-Gibraltar gene flow. Finally, the southern Iberian Early Neolithic samples share the same genetic composition as the Cardial Mediterranean Neolithic culture that reached Iberia ∼5,500 BCE. The cultural and genetic similarities of the Iberian Neolithic cultures with that of North African Neolithic sites further reinforce the model of an Iberian migration into the Maghreb.SIGNIFICANCE STATEMENTThe acquisition of agricultural techniques during the so-called Neolithic revolution has been one of the major steps forward in human history. Using next-generation sequencing and ancient DNA techniques, we directly test if Neolithization in North Africa occurred through the transmission of ideas or by demic diffusion. We show that Early Neolithic Moroccans are composed of an endemic Maghrebi element still retained in present-day North African populations and distantly related to Epipaleolithic communities from the Levant. However, late Neolithic individuals from North Africa are admixed, with a North African and a European component. Our results support the idea that the Neolithization of North Africa might have involved both the development of Epipaleolithic communities and the migration of people from Europe.

Flow-induced vibration of loose parts located on steam generator (SG) tube sheets can result in SG tube damage and eventual loss of SG efficiency. Regular inspection of SG tubes at support structures can help extend SG life by detecting and monitoring flaws as well as identifying accumulation of loose parts. Application of conventional eddy-current technologies in this case, however, is limited when magnetite fouling is present or when loose parts are resting directly on the SG tube sheet. Pulsed eddy current (PEC) combined with a modified principal components analysis (MPCA) was investigated as a method of detecting and identifying a variety of loose part materials in close proximity to 15.9-mm outer diameter Alloy-800 SG tubes and surrounding steel support structures. Loose parts were found to be detectable for varying axial positions along the SG tube and when in contact with the tube sheet. When offset radially from the SG tube, 1.6-mm-diameter carbon steel parts with a strong magnetic component allowed detection up to 3.2 mm away, while nonferromagnetic stainless steel parts of the same size could only be detected up to 1.5 mm away. Signal variation in the presence of loose parts was attributed to differences in amplitude of transient response and in relaxation times for diffusion of transient magnetic fields through various materials. The ability to accurately detect and identify loose parts located in close proximity to SG tubes establishes PEC combined with MPCA as a potential candidate for SG inspection.

Corrosion of carbon steel rebar in concrete structures, such as highways, bridges, and buildings have a direct impact on their structural integrity, since the rebar provides the tensile strength within the structure. Rebar strength depends on the remaining effective cross-section of a given rod. Presence of water and migration of corrosive elements, such as chloride, may result in rebar corrosion with subsequent loss of overall structural strength. In order to adequately quantify the cross-section of the ferromagnetic rod, it is necessary that the transient response is strong enough to be detected. In addition, rebar used in different applications will be placed at different depths from the outermost concrete wall. Examination of long-time decay, on five rebar samples of diameters ranging from 19 mm (0.75 in) to 57 mm (2.25 in), in the transient response of Pulsed Eddy Current (PEC) was examined as a potential method to quantify a maximum liftoff-to-size relationship. The transient response of a coaxial solenoidal drive-receive coil pair, oriented parallel to the rebar axis, was analyzed over a range of liftoffs (distance within the concrete) up to 150 mm. At times greater than ~30 ms, a single exponential decay constant appeared as a constant slope, independent of liftoff in a semi-log plot. The intercept of the linear long-time decay, in semi-log space, decreased exponentially with liftoff, and maintained a viable window for analysis up to 85 mm, 110 mm, 125 mm, 138 mm and 141 mm distances for rebar diameters of 18 mm (0.75 in), 25 mm (1 in), 38 mm (1.5 in), 51 mm (2 in) and 57 mm (2.25 in), respectively. Stated data demonstrate a power law dependence on rebar radius of limits on signal analysis due to liftoff. This report shows the potential for PEC analysis to quantify the cross-sectional area of rebar in concrete structures up to size-dependent threshold depths.

This chapter takes a look at genetics and its role in the study of ancient history. Genetics is the study of inheritance, and DNA variation is the essence of heredity. DNA sequence differences underpin genetics overall and population genetics is the study of such diversity in populations and how it changes through time. Reconstructing human history using modern DNA has been a longstanding endeavor rooted in sampling practicality. If a mutational change does not negatively affect the individual's ability to reproduce, it may be passed down to each succeeding generation, eventually becoming established in a population. Such mutations, whether beneficial, harmful, or neutral, can serve as genetic markers.

Aerospace sandwich panels subject to low-velocity impacts can develop damage in both the face sheet and the core that may compromise structural integrity. The standard repair manual for each aircraft specifies allowable damage limits that consider surface dents and the presence of disbonds or delaminations. A strategy for identifying the types of impact damage according to the standard repair manual using a series of non-destructive inspection techniques is presented for honeycomb sandwich panels with composite facesheets and metallic core. Eddy current is first used to identify impact sites, followed by thermography to detect disbonds or delaminations and laser scanning to measure the size of surface dents. Images of damage sites in honeycomb sandwich panels from low-velocity impacts created using a drop tower show that when used together, these inspection methods are able to detect and distinguish between three different damage configurations; core crush, surface dents, and adhesive disbonds or face sheet ply delaminations. While these three methods are commonly used non-destructive evaluation techniques, this paper focuses on their combined use in identifying different types of impact damage in aerospace sandwich panels in-situ according to the requirements of the standard repair manual. The combined methods are shown to address requirements of dent depth, dent area, and the identification of disbonds or delaminations in a more rapid, repeatable and robust manner than is currently employed.

Material electrical resistivity is an important parameter for eddy current based inspections. For example, material resistivity values for the pressure tube (PT) and calandria tube (CT) are required to ensure accurate measurement of the PT-CT gap in CANDU® reactor fuel channels. Currently, gap measurement calibration is performed on a non-heat treated and non-irradiated PT, and the resistivity used during calibration is assumed to reflect that of in-reactor conditions. In contrast, changes in other parameters that affect gap measurement are compensated using in-reactor measurements. To test whether in-reactor conditions, such as exposure to elevated temperatures, could change a PT material's resistivity, this study examined the effect of heat treatment on Zr-2.5% Nb resistivity. Sectioned PT samples were held for varying periods of time at 400 °C and 450 °C, under anaerobic furnace conditions, in order to partially decompose β-Zr and produce varying fractions of ω-Zr. These temperatures were chosen to accelerate the phase transformations, which take place over a longer period of time under reactor operating conditions, where temperatures are typically between 250 °C and 310 °C. The resistivity of the heat-treated PT samples was measured using the four-point method and changes in resistivity with time at temperature were recorded. The magnitude of the resistivity was observed to decrease by up to 10% after approximately 5000 hrs at 400 °C. Reduction of resistivity with heat treatment was associated with changes in the microstructure and supported by empirical resistivity-microstructure models. Transmission electron microscopy (TEM) showed an increase in the HCP (Hexagonal Closed Packed) ω-phase volume fraction, and an associated decrease in the beta-phase network that was reducing contact between higher conductivity α-Zr grains, which resulted in an overall decrease of resistivity. These results have implications for the uncertainty of PT to CT gap measurement, where temperature variations arise along and around the channel during reactor operations.

Inspection for corrosion in steam generator (SG) tube support structures is a significant component of monitoring SG condition, since support degradation can lead to SG tube flaws, and thereby further SG deterioration. A pulsed eddy current probe was developed to augment SG inspection at carbon steel trefoil broach supports. The probe demonstrated capability to measure far side wall loss as small as 20% of the original 2.7-mm-thick broach support ligament from within the Alloy 800 SG tube. A power law fit of the data was found to describe signal variation at later times under conditions of varying wall thickness and lift-off. The associated power law exponent varied linearly with wall thickness and was observed to be largely independent of lift-off and angular orientation of the probe, identifying it as a potential parameter for ligament wall thickness monitoring. Voltage response integrated over time also provided a low-noise means of measuring the wall loss when lift-off variation and misalignment were not present.

In-service inspection of complex systems such as nuclear steam generator (SG) tubes and their surrounding support structures is challenged by overlapping degradation modes. In these complex systems the simultaneous and accurate measurement of more than two interdependent parameters is difficult using standard statistical regression analysis tools. Recently, artificial neural networks (ANNs) have been investigated for dealing with the complex relation between inspection data and defect properties. In this paper, pulsed eddy current data were obtained using a single driver with an array of eight pick-up coils configured for inspection of Alloy-800 SG tube fretting, accompanied by tube offset within a simulated corroding ferromagnetic support structure. Time-voltage data were processed by a modified principal component analysis (MPCA) to reduce data dimensionality, and MPCA scores were input into an ANN that simultaneously targeted four parameters associated with support structure hole size, tube off-centering in two dimensions, and fret depth. The neural network was trained, tested, and validated on experimental data and provided estimates within 2% of hole inner diameter (ID) and 3% of fret depth targets. The estimates of hole ID and tube position were further improved when fret depth was used as an input, as might occur if fret depth inspection results are available.

Inspection of bulk wall loss, due to far side surface corrosion in ferromagnetic steel pipe, is a common requirement across multiple industries, including chemical processing, and oil and gas. In the nuclear industry, there is a requirement for inspection of tile holes and balance of plant inspections, where insulated pipe is present. Inspection is typically done using ultrasonic testing, which necessitates a coupling agent and removal of any insulation. Pulsed eddy current (PEC) technique does not require direct contact and has a larger spot size, thereby facilitating more rapid inspection without insulation removal. To further develop the potential of PEC to inspect under these conditions, a reflection type PEC probe was examined for inspection of thickness of steel plate. PEC data was taken for different plate thicknesses so that sensitivity to wall loss due to corrosion could be assessed. The PEC signal was analyzed by fitting the tail of the transient decay with an exponential curve, with curve fitting parameters correlated to wall thickness variation. An analytical model was developed and partially validated in order to examine a wider range of factors, such as probe dimensions, number of turns, and magnetic permeability and conductivity of the steel. The modelled data was also used to perform a sensitivity analysis on probe dimensions in order to realise the largest range of wall thickness with highest spatial resolution. A finite element method model of the reflection probe over steel plate was used to provide insights into the observation from the analytical model that outer pickup coil radius was the most significant optimization parameter.

Red cell polymorphisms can provide evidence of human migration and adaptation patterns. In Eurasia, the distribution of Diego blood group system polymorphisms remains unaddressed. To shed light on the dispersal of the Dia antigen, we performed analyses of correlations between the frequencies of DI*01 allele, C2-M217 and C2-M401 Y-chromosome haplotypes ascribed as being of Mongolian-origin and language affiliations, in 75 Eurasian populations including DI*01 frequency data from the HGDP-CEPH panel. We revealed that DI*01 reaches its highest frequency in Mongolia, Turkmenistan and Kyrgyzstan, expanding southward and westward across Asia with Altaic-speaking nomadic carriers of C2-M217, and even more precisely C2-M401, from their homeland presumably in Mongolia, between the third century BCE and the thirteenth century CE. The present study has highlighted the gene-culture co-migration with the demographic movements that occurred during the past two millennia in Central and East Asia. Additionally, this work contributes to a better understanding of the distribution of immunogenic erythrocyte polymorphisms with a view to improve transfusion safety.

Degradation and fouling of support structures in nuclear steam generators (SGs) can lead to SG tube damage and loss of SG efficiency. Inspection and monitoring of support structures combined with preventative maintenance programs can alleviate these effects and extend SG life. Conventional eddy current inspection technologies are extensively used for detecting and sizing indications from wall loss, frets at supports, cracks and other degradation modes in the tubes, as well as assessing the condition of support structures. However, these methods have limited capabilities when more than one degradation mode is present simultaneously, or when combined with fouling. Pulsed eddy current combined with principal components analysis (PCA) was examined for inspection of 15.9 mm (5/ $8^{{\prime }{\prime }}$ ) Alloy-800 tubes and surrounding stainless steel (SS410) support structures. Clear separation of PCA scores associated with tubes from those associated with ferromagnetic SS410 supports permitted measurement of tube-to-support gaps, in either the presence of tube fretting or variation of relative position of the tube within SS410 supports. For concentric tubes, frets could be sized independently of SS410 hole diameter variations, which in other materials could represent support corrosion. Capability to clearly separate scores was attributed to large differences in relaxation times for diffusion of transient fields through the tube compared with diffusion into the ferromagnetic support structure.

Aging aircraft is susceptible to cyclic fatigue cracks around ferrous fasteners in multilayer aluminum wing lap joints, as found on Canadian Military aircraft CP-140 Aurora and CC-130 Hercules. Current methods of crack detection utilize bolt hole eddy current, requiring fastener removal, a time consuming process that also has the potential to result in collateral damage. In this paper, pulsed eddy currents (PECs) are induced in the aluminum wing structure by a probe centered over a ferrous fastener. The response signals are analyzed using a modified principal components analysis (PCA) and cluster analysis to show separation of groups of PCA scores from fasteners with and without notches in the bore hole. The Mahalanobis distance (MD), a cluster analysis method, is used to obtain a relative distance measurement between scores associated with cracks from those without cracks. The MD evaluation provides confidence intervals for detection of cracks, which range in extent from fastener holes from 0.9 to 5.5 mm, and a means of potentially sizing larger (>3 mm) second layer cracks. In this paper, 100% of the cracks in the sample were detectable. The results demonstrate PEC as a viable technique for second layer crack detection with ferrous fasteners present.

International audience; The rarity of human remains makes it difficult to apprehend the first settlements in Corsica. It is admitted that initial colonization could have occurred during the Mesolithic period when glaciations would have shortened the open water travel distance from the continent. Meso-lithic sites in Corsica show relatively short and irregular occupation, and suggest discontinu-ous settling of very mobile groups probably traveling by boat. Previous genetic studies on Corsican populations showed internal differentiation and a relatively poor genetic relationship with continental populations, despite intense historical contacts, however local Meso-lithic-based genetic inheritance has never been properly estimated. The aim of this study was to explore the Corsican genetic profile of Y-chromosomes in order to trace the genetic signatures back to the first migrations to Corsica. This study included 321 samples from men throughout Corsica; samples from Provence and Tuscany were added to the cohort. All samples were typed for 92 Y-SNPs, and Y-STRs were also analyzed. Results revealed highly differentiated haplogroup patterns among Corsican populations. Haplogroup G had the highest frequency in Corsica, mostly displaying a unique Y-STR profile. When compared with Provence and Tuscany, Corsican populations displayed limited genetic proximity. Cor-sican populations present a remarkable Y-chromosome genetic mixture. Although the Cor-sican Y-chromosome profile shows similarities with both Provence and to a lesser extent Tuscany, it mainly displays its own specificity. This study confirms the high level of genetic diversity in Corsican populations and backs genetic contributions from prehistoric migrations associated with the Mesolithic, Neolithic and Metal Age eras, rather than from historical movements to Corsica, respectively attested by frequencies and TMRCA of haplogroups G2a-L91 and G2a-P15, J2a-M241 and J2-DYS445 = 6, R1b-U152 and R1b-U106. These results suggest that marine routes to reach the Corsican coast in many different points may have led to such a genetic heterogeneity.

Small cracks originating near bolt holes in the inner layers of aircraft lap joints cannot be detected by conventional eddy current techniques with ferrous fasteners present. The current work employs finite element modeling to investigate the effectiveness of pulsed eddy current (PEC) in detecting deep-lying cracks of different sizes and orientations. Differential signals analyzed using a modified Principal Components Analysis (PCA) method reveal the potential success of a PEC-PCA combination to produce scores that can be used to determine the presence of cracks. The method can also identify signals from an off-centered probe. Results are supported by experiment.

A study was conducted to estimate the Probability of Detection (POD) of a screening technique for samples representative of lap joints in wing structure of the P-3 Orion airframe containing EDM notches in the bottom of the top layer and the top of the second layer radiating from holes containing ferrous fasteners. It was assumed that the defects made up only a small fraction of the data (

The aluminum inner wing spars of F/A-18 Hornet aircraft may undergo stress corrosion cracking along the spar between the fasteners that secure carbon-fiber/epoxy composite skin to the wing. Inspection of the spar through the wing skin is required to avoid wing disassembly. The thickness of the skin varies between 9 and 21 mm (0.36-0.83 in) and fasteners may be either titanium or ferrous. Pulsed eddy currents (PECs), generated by a probe centered over the fastener, demonstrate the capability of detecting simulated cracks within spars with the wing skin present. Comparison of signals from separate pick-up coils, mounted to either side of the excitation coil, is used to detect differences in induced eddy current fields, which arise in the presence of cracks. To overcome variability in PEC signal response due to variation in: 1) skin thickness; 2) fastener material and size; and 3) centering over fasteners, a large calibration data set is acquired. Multidimensional scores from a modified principal components analysis (PCA) of the data are reduced to 1-D using a discriminant analysis method. Under inspection conditions, calibration PCA scores combined with discriminant analysis permit rapid real time go/no-go PEC detection of cracks in F/A-18 inner wing spar.

Stress corrosion cracks may develop between fasteners in the aluminum inner wing spars of F/A-18 Hornet aircraft. These fasteners secure carbon-fibre/epoxy composite wing skin, of nominal 13 mm thickness, to the spar. Inspection of the spar through the wing skin is required in order to avoid wing disassembly. Pulsed eddy currents, generated by a probe design that utilizes the ferrous fastener as a flux conduit, are demonstrated as having the capability of detecting simulated cracks within the spar with the wing skin present. Differentially connected pickup coils are used to sense differences in response due to asymmetries in induced eddy current fields arising in the presence of cracks. To overcome variability in PEC signal response due to variability in magnetic coupling to the fastener, a large measurement set was analyzed using Modified Principal Component Analysis (PCA). The modified PCA minimizes residual sum of squares to extract eigenfunction scores, which are used to detect the presence of cracks ending on one side of the fastener hole. The ability of the method to sense simulated cracks independent of confounding measurement parameters was demonstrated.

The paternal haplogroup (hg) N is distributed from southeast Asia to eastern Europe. The demographic processes that have shaped the vast extent of this major Y chromosome lineage across numerous linguistically and autosomally divergent populations have previously been unresolved. On the basis of 94 high-coverage re-sequenced Y chromosomes, we establish and date a detailed hg N phylogeny. We evaluate geographic structure by using 16 distinguishing binary markers in 1,631 hg N Y chromosomes from a collection of 6,521 samples from 56 populations. The more southerly distributed sub-clade N4 emerged before N2a1 and N3, found mostly in the north, but the latter two display more elaborate branching patterns, indicative of regional contrasts in recent expansions. In particular, a number of prominent and well-defined clades with common N3a3'6 ancestry occur in regionally dissimilar northern Eurasian populations, indicating almost simultaneous regional diversification and expansion within the last 5,000 years. This patrilineal genetic affinity is decoupled from the associated higher degree of language diversity.

The Austronesian expansion has left its fingerprint throughout two thirds of the circumference of the globe reaching the island of Madagascar in East Africa to the west and Easter Island, off the coast of Chile, to the east. To date, several theories exist to explain the current genetic distribution of Austronesian populations, with the "slow boat" model being the most widely accepted, though other conjectures (i.e., the "express train" and "entangled bank" hypotheses) have also been widely discussed. In the current study, 158 Y chromosomes from the Polynesian archipelagos of Samoa and Tonga were typed using high resolution binary markers and compared to populations across Mainland East Asia, Taiwan, Island Southeast Asia, Melanesia and Polynesia in order to establish their patrilineal genetic relationships. Y-STR haplotypes on the C2 (M38), C2a (M208), O1a (M119), O3 (M122) and O3a2 (P201) backgrounds were utilized in an attempt to identify the differing sources of the current Y-chromosomal haplogroups present throughout Polynesia (of Melanesian and/or Asian descent). We find that, while haplogroups C2a, S and K3-P79 suggest a Melanesian component in 23%-42% of the Samoan and Tongan Y chromosomes, the majority of the paternal Polynesian gene pool exhibits ties to East Asia. In particular, the prominence of sub-haplogroup O3a2c* (P164), which has previously been observed at only minimal levels in Mainland East Asians (2.0-4.5%), in both Polynesians (ranging from 19% in Manua to 54% in Tonga) and Ami aborigines from Taiwan (37%) provides, for the first time, evidence for a genetic connection between the Polynesian populations and the Ami.

Armenia, situated between the Black and Caspian Seas, lies at the junction of Turkey, Iran, Georgia, Azerbaijan and former Mesopotamia. This geographic position made it a potential contact zone between Eastern and Western civilizations. In this investigation, we assess Y-chromosomal diversity in four geographically distinct populations that represent the extent of historical Armenia. We find a striking prominence of haplogroups previously implicated with the Agricultural Revolution in the Near East, including the J2a-M410-, R1b1b1(*)-L23-, G2a-P15- and J1-M267-derived lineages. Given that the Last Glacial Maximum event in the Armenian plateau occured a few millennia before the Neolithic era, we envision a scenario in which its repopulation was achieved mainly by the arrival of farmers from the Fertile Crescent temporally coincident with the initial inception of farming in Greece. However, we detect very restricted genetic affinities with Europe that suggest any later cultural diffusions from Armenia to Europe were not associated with substantial amounts of paternal gene flow, despite the presence of closely related Indo-European languages in both Armenia and Southeast Europe.

Fatigue cracks are prone to develop around fasteners found in multi-layer aluminum structures on aging aircraft. Probability of Detection (POD) studies using eddy current techniques within the bolt holes contribute to risk assessments used in evaluating the serviceability of these aircraft. The signal response to corner and mid-bore cracks by eddy current testing using standard split-D differential probes has been examined. The data indicate that split-D probes are primarily sensitive to cracks at the corners of the Ds and that this gives rise to a double maximum for small mid-bore cracks as the corners pass over the crack. The double signal is not seen for corner cracks because the excitation coil, which is almost completely out of the hole, excites almost no eddy currents when the second corner of the D is over the crack. However, the eddy current response is more sensitive to corner cracks. The a90/95 for corner cracks was measured to be 0.22 mm (length) compared to 0.34 mm (depth) and 0.62 mm (length) for mid-bore cracks. The enhanced detectability of corner cracks is attributed to the presence of the edge, which restricts passage of eddy currents around the crack.

The aim of this article is to offer a concise interpretation of the scientific data about the topic of Croatian genetic heritage that was obtained over the past 10 years. We made a short overview of previously published articles by our and other groups, based mostly on Y-chromosome results. The data demonstrate that Croatian human population, as almost any other European population, represents remarkable genetic mixture. More than 3/4 of the contemporary Croatian men are most probably the offspring of Old Europeans who came here before and after the Last Glacial Maximum. The rest of the population is the offspring of the people who were arriving in this part of Europe through the southeastern route in the last 10 000 years, mostly during the neolithization process. We believe that the latest discoveries made with the techniques for whole- genome typing using the array technology, will help us understand the structure of Croatian population in more detail, as well as the aspects of its demographic history.

Autores: Brenna M. Henn ... [et al.]. 8 páginas, 4 figuras., Africa is inferred to be the continent of origin for all modern human populations, but the details of human prehistory and evolution in Africa remain largely obscure owing to the complex histories of hundreds of distinct populations. We present data for more than 580,000 SNPs for several hunter-gatherer populations: the Hadza and Sandawe of Tanzania, and the ≠Khomani Bushmen of South Africa, including speakers of the nearly extinct N|u language. We find that African hunter-gatherer populations today remain highly differentiated, encompassing major components of variation that are not found in other African populations. Hunter-gatherer populations also tend to have the lowest levels of genome-wide linkage disequilibrium among 27 African populations., We analyzed geographic patterns of linkage disequilibrium and population differentiation, as measured by FST, in Africa. The observed patterns are consistent with an origin of modern humans in southern Africa rather than eastern Africa, as is generally assumed. Additionally, genetic variation in African hunter-gatherer populations has been significantly affected by interaction with farmers and herders over the past 5,000 y, through both severe population bottlenecks and sex-biased migration. However, African hunter-gatherer populations continue to maintain the highest levels of genetic diversity in the world., Este trabajo ha sido financiado por: Center for Human Origins and Evolution, Morrison Institute for Population y Resource Studies at Stanford University, a UCSF Chancellor's Graduate Research Fellowship (para C.R.G.), y National Institute of Health Grants 3R01HG003229 y 3R01GM028016.

Human Y chromosome haplogroup structure is largely circumscribed by continental boundaries. One notable exception to this general pattern is the young haplogroup R1a that exhibits post-Glacial coalescent times and relates the paternal ancestry of more than 10% of men in a wide geographic area extending from South Asia to Central-East Europe and South Siberia. Its origin and dispersal patterns are poorly understood as no marker has yet been described that would distinguish European R1a chromosomes from Asian. Here we present frequency and haplotype diversity estimates for more than 2, 000 R1a chromosomes assessed for several newly discovered SNP markers that introduce the onset of informative R1a subdivisions by geography. Marker M434 has a low frequency and a late origin in West Asia bearing witness to recent gene flow over the Arabian Sea. Conversely, marker M458 has a significant frequency in Europe, exceeding 30% in its core area in Eastern Europe and comprising up to 70% of all M17 chromosomes present there. The diversity and frequency profiles of M458 suggest its origin during the early Holocene and a subsequent expansion likely related to a number of prehistoric cultural developments in the region. Its primary frequency and diversity distribution correlates well with some of the major Central and East European river basins where settled farming was established before its spread further eastwards. Importantly, the virtual absence of M458 chromosomes outside Europe speaks against substantial patrilineal gene flow from East Europe to Asia, including to India, at least since the mid-Holocene.

Following a screen for neuromuscular mouse mutants, we identified ostes, a novel N-ethyl N-nitrosourea-induced mouse mutant with muscle atrophy. Genetic and biochemical evidence shows that upregulation of the novel, uncharacterized transient receptor potential polycystic (TRPP) channel PKD1L2 (polycystic kidney disease gene 1-like 2) underlies this disease. Ostes mice suffer from chronic neuromuscular impairments including neuromuscular junction degeneration, polyneuronal innervation and myopathy. Ectopic expression of PKD1L2 in transgenic mice reproduced the ostes myopathic changes and, indeed, caused severe muscle atrophy in Tg(Pkd1l2)/Tg(Pkd1l2) mice. Moreover, double-heterozygous mice (ostes/+, Tg(Pkd1l2)/0) suffer from myopathic changes more profound than each heterozygote, indicating positive correlation between PKD1L2 levels and disease severity. We show that, in vivo, PKD1L2 primarily associates with endogenous fatty acid synthase in normal skeletal muscle, and these proteins co-localize to costameric regions of the muscle fibre. In diseased ostes/ostes muscle, both proteins are upregulated, and ostes/ostes mice show signs of abnormal lipid metabolism. This work shows the first role for a TRPP channel in neuromuscular integrity and disease.

Aim To determine the human Y-chromosome haplogroup backgrounds of intermediate-sized variant alleles displayed by short tandem repeat (STR) loci DYS392, DYS449, and DYS385, and to valuate the potential of each intermediate variant to elucidate new phylogenetic substructure within the human Y-chromosome haplogroup tree. Methods Molecular characterization of lineages was achieved using a combination of Y-chromosome haplogroup defining binary polymorphisms and up to 37 short tandem repeat loci. DNA sequencing and medianjoining network analyses were used to evaluate Y-chromosome lineages displaying intermediate variant alleles. Results We show that DYS392.2 occurs on a single haplogroup background, specifically I1*-M253, and likely represents a new phylogenetic subdivision in this European haplogroup. Intermediate variants DYS449.2 and DYS385.2 both occur on multiple haplogroup backgrounds, and when evaluated within specific haplogroup contexts, delineate new phylogenetic substructure, with DYS449.2 being informative within haplogroup A-P97 and DYS385.2 in haplogroups D-M145, E1b1a-M2, and R1b*-M343. Sequence analysis of variant alleles observed within the various haplogroup backgrounds showed that the nature of the intermediate variant differed, confirming the mutations arose independently. Conclusions Y-chromosome short tandem repeat intermediate variant alleles, while relatively rare, typically occur on multiple haplogroup backgrounds. This distribution indicates that such mutations arise at a rate generally intermediate to those of binary markers and STR loci. As a result, intermediate-sized Y-STR variants can reveal phylogenetic substructure within the Y-chromosome phylogeny not currently detected by either binary or Y-STR markers alone, but only when such variants are evaluated within a haplogroup context.

We study the major levels of Y-chromosome haplogroup variation in 15 Sudanese populations by typing major Y-haplogroups in 445 unrelated males representing the three linguistic families in Sudan. Our analysis shows Sudanese populations fall into haplogroups A, B, E, F, I, J, K, and R in frequencies of 16.9, 7.9, 34.4, 3.1, 1.3, 22.5, 0.9, and 13% respectively. Haplogroups A, B, and E occur mainly in Nilo-Saharan speaking groups including Nilotics, Fur, Borgu, and Masalit; whereas haplogroups F, I, J, K, and R are more frequent among Afro-Asiatic speaking groups including Arabs, Beja, Copts, and Hausa, and Niger-Congo speakers from the Fulani ethnic group. Mantel tests reveal a strong correlation between genetic and linguistic structures (r = 0.31, P = 0.007), and a similar correlation between genetic and geographic distances (r = 0.29, P = 0.025) that appears after removing nomadic pastoralists of no known geographic locality from the analysis. The bulk of genetic diversity appears to be a consequence of recent migrations and demographic events mainly from Asia and Europe, evident in a higher migration rate for speakers of Afro-Asiatic as compared with the Nilo-Saharan family of languages, and a generally higher effective population size for the former. The data provide insights not only into the history of the Nile Valley, but also in part to the history of Africa and the area of the Sahel.

Although geneticists have extensively debated the mode by which agriculture diffused from the Near East to Europe, they have not directly examined similar agropastoral diffusions in Africa. It is unclear, for example, whether early instances of sheep, cows, pottery, and other traits of the pastoralist package were transmitted to southern Africa by demic or cultural diffusion. Here, we report a newly discovered Y-chromosome-specific polymorphism that defines haplogroup E3b1f-M293. This polymorphism reveals the monophyletic relationship of the majority of haplotypes of a previously paraphyletic clade, E3b1-M35*, that is widespread in Africa and southern Europe. To elucidate the history of the E3b1f haplogroup, we analyzed this haplogroup in 13 populations from southern and eastern Africa. The geographic distribution of the E3b1f haplogroup, in association with the microsatellite diversity estimates for populations, is consistent with an expansion through Tanzania to southern-central Africa. The data suggest this dispersal was independent of the migration of Bantu-speaking peoples along a similar route. Instead, the phylogeography and microsatellite diversity of the E3b1f lineage correlate with the arrival of the pastoralist economy in southern Africa. Our Y-chromosomal evidence supports a demic diffusion model of pastoralism from eastern to southern Africa ≈2,000 years ago.

Markers on the non-recombining portion of the human Y chromosome continue to have applications in many fields including evolutionary biology, forensics, medical genetics, and genealogical reconstruction. In 2002, the Y Chromosome Consortium published a single parsimony tree showing the relationships among 153 haplogroups based on 243 binary markers and devised a standardized nomenclature system to name lineages nested within this tree. Here we present an extensively revised Y chromosome tree containing 311 distinct haplogroups, including two new major haplogroups (S and T), and incorporating approximately 600 binary markers. We describe major changes in the topology of the parsimony tree and provide names for new and rearranged lineages within the tree following the rules presented by the Y Chromosome Consortium in 2002. Several changes in the tree topology have important implications for studies of human ancestry. We also present demography-independent age estimates for 11 of the major clades in the new Y chromosome tree.

The earliest Neolithic sites of Europe are located in Crete and mainland Greece. A debate persists concerning whether these farmers originated in neighboring Anatolia and the role of maritime colonization. To address these issues 171 samples were collected from areas near three known early Neolithic settlements in Greece together with 193 samples from Crete. An analysis of Y-chromosome haplogroups determined that the samples from the Greek Neolithic sites showed strong affinity to Balkan data, while Crete shows affinity with central/Mediterranean Anatolia. Haplogroup J2b-M12 was frequent in Thessaly and Greek Macedonia while haplogroup J2a-M410 was scarce. Alternatively, Crete, like Anatolia showed a high frequency of J2a-M410 and a low frequency of J2b-M12. This dichotomy parallels archaeobotanical evidence, specifically that while bread wheat (Triticum aestivum) is known from Neolithic Anatolia, Crete and southern Italy; it is absent from earliest Neolithic Greece. The expansion time of YSTR variation for haplogroup E3b1a2-V13, in the Peloponnese was consistent with an indigenous Mesolithic presence. In turn, two distinctive haplogroups, J2a1h-M319 and J2a1b1-M92, have demographic properties consistent with Bronze Age expansions in Crete, arguably from NW/W Anatolia and Syro-Palestine, while a later mainland (Mycenaean) contribution to Crete is indicated by relative frequencies of V13.

Arabia has served as a strategic crossroads for human disseminations, providing a natural connection between the distant populations of China and India in the east to the western civilizations along the Mediterranean. To explore this region's critical role in the migratory episodes leaving Africa to Eurasia and back, high-resolution Y-chromosome analysis of males from the United Arab Emirates (164), Qatar (72) and Yemen (62) was performed. The role of the Levant in the Neolithic dispersal of the E3b1-M35 sublineages is supported by the data, and the distribution and STR-based analyses of J1-M267 representatives points to their spread from the north, most likely during the Neolithic. With the exception of Yemen, southern Arabia, South Iran and South Pakistan display high diversity in their Y-haplogroup substructure possibly a result of gene flow along the coastal crescent-shaped corridor of the Gulf of Oman facilitating human dispersals. Elevated rates of consanguinity may have had an impact in Yemen and Qatar, which experience significant heterozygote deficiencies at various hypervariable autosomal STR loci.

Published and new samples of Aboriginal Australians and Melanesians were analyzed for mtDNA ( n = 172) and Y variation ( n = 522), and the resulting profiles were compared with the branches known so far within the global mtDNA and the Y chromosome tree. ( i ) All Australian lineages are confirmed to fall within the mitochondrial founder branches M and N and the Y chromosomal founders C and F, which are associated with the exodus of modern humans from Africa ≈50–70,000 years ago. The analysis reveals no evidence for any archaic maternal or paternal lineages in Australians, despite some suggestively robust features in the Australian fossil record, thus weakening the argument for continuity with any earlier Homo erectus populations in Southeast Asia. ( ii ) The tree of complete mtDNA sequences shows that Aboriginal Australians are most closely related to the autochthonous populations of New Guinea/Melanesia, indicating that prehistoric Australia and New Guinea were occupied initially by one and the same Palaeolithic colonization event ≈50,000 years ago, in agreement with current archaeological evidence. ( iii ) The deep mtDNA and Y chromosomal branching patterns between Australia and most other populations around the Indian Ocean point to a considerable isolation after the initial arrival. ( iv ) We detect only minor secondary gene flow into Australia, and this could have taken place before the land bridge between Australia and New Guinea was submerged ≈8,000 years ago, thus calling into question that certain significant developments in later Australian prehistory (the emergence of a backed-blade lithic industry, and the linguistic dichotomy) were externally motivated.

Several commercial PCR multiplex kits incorporate the amelogenin locus for the purpose of human gender identification. Consequently, erroneous results in the electropherogram profile of this locus can carry important forensic implications. In this study, dropout of the amelogenin Y allele was detected in 5 out of 77 phenotypically normal Kathmandu males using the AmpFlSTR Identifiler kit. A battery of male-specific markers including SNPs, STRs, STSs, and a minisatellite were amplified for the five amelogenin null samples in order to delineate the breakpoints of the deletions as well as assess the overall integrity of the Y-chromosome. This study represents the first to examine the haplogroup affiliation of the AMGY deletions. The analyses performed suggest a single origin for the five deletions as indicated by their allocation to a specific Y-haplogroup (J2b2-M241), related Y-STR haplotypes and identical regional localization of breakpoints. The age estimated from the microsatellite variation for the amelogenin deletions (if they are associated by descent) is approximately 6.5+/-3.3 ky, younger than the previously reported related age of the M241 haplogroup representatives (13-14 ky). Our data in combination with previous publications suggest a concentration of afflicted individuals in the Indian subcontinent, possibly as a result of common ancestry. The elevated incidence of the amelogenin dropout in these populations accentuates the need to utilize other loci for gender determination in order to obtain an accurate set of inclusion criteria in forensic casework.

It is commonly thought that human genetic diversity in non-African populations was primarily shaped by a recent out-of-Africa dispersal. Here we present a large geographical Y chromosome study using 459 high coverage sequences, including 302 newly reported here. We date the Y chromosomal Most Recent Common Ancestor (MRCA) in Africa at 254 (95% CI 192- 307) kya and differentiation of African and non-African lineages 52-121 kya. The age estimates for major non-African founder haplogroups cluster closely in a narrow time interval at 47-52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. We find that the highest basal Y chromosome diversity outside Africa has been preserved in South and Southeast Asians while extant Y chromosome diversity in Europe and the Near East stems from a small number of mid-Holocene founders. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck, followed by a fast recovery in Old World populations dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.

A large part of Y chromosome lineages in East European and East Asian human populations belong to haplogroup (hg) NO, which is composed of two sister clades N-M231 and O-M175. The O-clade is relatively old (around 30 thousand years (ky)) and encompasses the vast majority of east and Southeast Asian male lineages, as well as significant proportion of those in Oceanian males. On the other hand, our detailed analysis of hg N suggests that its high frequency in east Europe is due to its more recent expansion westward on a counter-clock northern route from inner Asia/southern Siberia, approximately 12-14 ky ago. The widespread presence of hg N in Siberia, together with its absence in Native Americans, implies its spread happened after the founder event for the Americas. The most frequent subclade N3, arose probably in the region of present day China, and subsequently experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe. Another branch, N2, forms two distinctive subclusters of STR haplotypes, Asian (N2-A) and European (N2-E), the latter now mostly distributed in Finno-Ugric and related populations. These phylogeographic patterns provide evidence consistent with male-mediated counter-clockwise late Pleistocene-Holocene migratory trajectories toward Northwestern Europe from an ancestral East Asian source of Paleolithic heritage.

Biallelic polymorphisms on the Y chromosome have been extensively used to study the history, evolution, and migration patterns of world populations. In this study we screened 8.5 kb of Y chromosomal DNA for single nucleotide polymorphisms (SNPs) in a panel of 95 male individuals belonging to different haplogroups. Five novel Y-SNPs (PK1-5) were identified, four in the Pakistani sample and one in an African sample. The ancestral state of each SNP was determined in two chimpanzee samples and a variety of Pakistani ethnic groups. In addition to these novel Y-SNPs 77 additional markers on the Y chromosome were analyzed to place the SNPs on the phylogenetic tree of Y chromosomal lineages and to further investigate extant human Y chromosomal variation within Pakistan. BATWING analysis gave an estimate of between 2,500 and 7,300 YBP for population expansion in Pakistan which coincides with the period of the Indus Valley civilizations.