Complex Admixture Research Articles

Al(SO4)(OH)·5H2O Stemming from Complexation of Aluminum Sulfate with Water-Soluble Ternary Copolymer and further Stabilized by Silica Gel as Effective Admixtures for Enhanced Mortar Cementing.

A water-soluble ternary copolymer bearing carboxyl, sulfonic, and amide functional groups was synthesized using ammonium persulfate-catalyzed free radical polymerization in water, resulting in high monomer conversion. This copolymer was then complexed with aluminum sulfate, forming an admixture containing Al(SO4)(OH)·5H2O, which was subsequently combined with silica gel. Characterization revealed that the synthesized copolymer formed a large, thin membrane that covered both the aluminum compounds and the silica gel blocks. The introduction of this complex admixture, combining the copolymer and aluminum sulfate, not only reduced the setting times of the cement paste but also enhanced the mechanical strengths of the mortar compared to using aluminum sulfate alone. The complex admixture led to the formation of katoite, metajennite, and C3A (tricalcium aluminate) in the mortar, demonstrating significant linking effects, whereas pure aluminum sulfate could not completely transform C3S within 24 h. Further addition of silica gel to the complex admixture further shortened the setting times of the paste, slightly reduced compressive strength, but improved flexural strength compared to the initial complex admixture. The silicon components appeared to fill the micropores and mesopores of the mortar, accelerating cement setting and enhancing flexural strength, while slightly decreasing compressive strength. This study contributed to the development of new cementing accelerators with improved hardening properties.

Myoepithelial tumors of soft tissue and bone in children and young adults: A clinicopathologic study of 40 cases occurring in patients ≤ 21 Years of age

Myoepithelial tumors of the soft tissue and bone occurring in patients 21 years of age and younger are rare, and their clinicopathologic features remain incompletely understood. We studied a well-characterized series of 40 such tumors. Cases were retrieved from our archives for the period 2009–2022 and re-reviewed. Available immunohistochemical and molecular genetic data was collected. Clinical information including available follow-up was obtained. The tumors occurred in 18 males and 22 females, ranging from 3 months to 21 years of age (median 11.5 years), and involved a wide variety of soft tissue (n = 36) and bone (n = 4) locations. Histologically benign myoepithelial tumors tended to occur in adolescents (median age 14.5 years; range 5–21 years), whereas myoepithelial carcinomas occurred in younger patients (median age 8.5 years; range 3 months–20 years). Microscopically, the tumors showed a complex admixture of epithelioid, plasmacytoid and spindled cells in a variably hyalinized, myxoid, chondroid or chondromyxoid background. Small subsets of histologically malignant tumors had rhabdoid or “round cell” features. Immunohistochemistry showed 35/40 (88%) cases to be positive with at least one keratin antibody. The 5 keratin-negative tumors were uniformly positive for S100 protein and/or SOX10 and expressed EMA (4 cases) and/or p63 (3 cases). EMA, SMA and GFAP were positive in 21/25 (84%), 13/21 (62%), and 8/21 (38%) tumors, respectively. SMARCB1 and SMARCA4 expression was retained in 29/31 (94%) and 22/22 (100%) of cases, respectively. FISH for EWSR1 gene rearrangement was positive in 6/18 (33%) tested cases. Two EWSR1-negative tumors were also FUS-negative. NGS identified EWSR1::POU5F1, FUS::KLF17, and BRD4::CITED1 gene fusions in 3 tested cases. Clinical follow-up (22 patients; median 23 months; range 1–119 months) showed 3 patients with local recurrences and 5 with distant metastases (lymph nodes, lung, and brain). Three patients died of disease, 3 were alive with recurrent or unresectable disease, and 16 were disease-free. Adverse clinical outcomes were seen only in patients with malignant tumors. We conclude that myoepithelial neoplasms of soft tissue and bone are over-repesented in patients ≤21 years of age, more often histologically malignant, and potentially lethal. Histologic evaluation appears to reliably predict the behavior of these rare tumors.

Differentiated genomic footprints suggest isolation and long-distance migration of Hmong-Mien populations

BackgroundThe underrepresentation of Hmong-Mien (HM) people in Asian genomic studies has hindered our comprehensive understanding of the full landscape of their evolutionary history and complex trait architecture. South China is a multi-ethnic region and indigenously settled by ethnolinguistically diverse HM, Austroasiatic (AA), Tai-Kadai (TK), Austronesian (AN), and Sino-Tibetan (ST) people, which is regarded as East Asia’s initial cradle of biodiversity. However, previous fragmented genetic studies have only presented a fraction of the landscape of genetic diversity in this region, especially the lack of haplotype-based genomic resources. The deep characterization of demographic history and natural-selection-relevant genetic architecture of HM people was necessary.ResultsWe reported one HM-specific genomic resource and comprehensively explored the fine-scale genetic structure and adaptative features inferred from the genome-wide SNP data of 440 HM individuals from 33 ethnolinguistic populations, including previously unreported She. We identified solid genetic differentiation between HM people and Han Chinese at 7.64‒15.86 years ago (kya) and split events between southern Chinese inland (Miao/Yao) and coastal (She) HM people in the middle Bronze Age period and the latter obtained more gene flow from Ancient Northern East Asians. Multiple admixture models further confirmed that extensive gene flow from surrounding ST, TK, and AN people entangled in forming the gene pool of Chinese coastal HM people. Genetic findings of isolated shared unique ancestral components based on the sharing alleles and haplotypes deconstructed that HM people from the Yungui Plateau carried the breadth of previously unknown genomic diversity. We identified a direct and recent genetic connection between Chinese inland and Southeast Asian HM people as they shared the most extended identity-by-descent fragments, supporting the long-distance migration hypothesis. Uniparental phylogenetic topology and network-based phylogenetic relationship reconstruction found ancient uniparental founding lineages in southwestern HM people. Finally, the population-specific biological adaptation study identified the shared and differentiated natural selection signatures among inland and coastal HM people associated with physical features and immune functions. The allele frequency spectrum of cancer susceptibility alleles and pharmacogenomic genes showed significant differences between HM and northern Chinese people.ConclusionsOur extensive genetic evidence combined with the historical documents supported the view that ancient HM people originated from the Yungui regions associated with ancient “Three-Miao tribes” descended from the ancient Daxi-Qujialing-Shijiahe people. Then, some have recently migrated rapidly to Southeast Asia, and some have migrated eastward and mixed respectively with Southeast Asian indigenes, Liangzhu-related coastal ancient populations, and incoming southward ST people. Generally, complex population migration, admixture, and adaptation history contributed to the complicated patterns of population structure of geographically diverse HM people.

Reconstructing complex admixture history using a hierarchical model.

Various methods have been proposed to reconstruct admixture histories by analyzing the length of ancestral chromosomal tracts, such as estimating the admixture time and number of admixture events. However, available methods do not explicitly consider the complex admixture structure, which characterizes the joining and mixing patterns of different ancestral populations during the admixture process, and instead assume a simplified one-by-one sequential admixture model. In this study, we proposed a novel approach that considers the non-sequential admixture structure to reconstruct admixture histories. Specifically, we introduced a hierarchical admixture model that incorporated four ancestral populations and developed a new method, called HierarchyMix, which uses the length of ancestral tracts and the number of ancestry switches along genomes to reconstruct the four-way admixture history. By automatically selecting the optimal admixture model using the Bayesian information criterion principles, HierarchyMix effectively estimates the corresponding admixture parameters. Simulation studies confirmed the effectiveness and robustness of HierarchyMix. We also applied HierarchyMix to Uyghurs and Kazakhs, enabling us to reconstruct the admixture histories of Central Asians. Our results highlight the importance of considering complex admixture structures and demonstrate that HierarchyMix is a useful tool for analyzing complex admixture events.

Prevalence of single-nucleotide variants in twenty-five pharmacogenes from a Cuban sample cohort.

The Cuban population is genetically diverse, and information on the prevalence of genetic variants is still limited. As complex admixture processes have occurred, we hypothesized that the frequency of pharmacogenetic variants and drug responses may vary within the country. The aims of the study were to describe the frequency distribution of 43 single-nucleotide variants (SNVs) from 25 genes of pharmacogenetic interest within the Cuba population and in relation to other populations, while taking into consideration some descriptive variables such as place of birth and skin color. SNVs were analyzed in 357 unrelated healthy Cuban volunteers. Genotype, allele frequencies, and ancestry proportions were determined, and the pairwise fixation index (FST ) was evaluated. Hardy-Weinberg equilibrium (HWE) deviations in six loci (rs11572103, rs2740574, rs776746, rs3025039, rs861539, and rs1762429) were identified. Minor allele frequencies (MAFs) ranged from 0.00 to 0.15 for variants in genes encoding xenobiotic metabolizing enzymes. They also ranged from 0.01 to 0.21 for variants in DNA repair, growth factors, methyltransferase, and methyl-binding proteins, while they ranged from 0.04 to 0.27 for variants in the O-6-methylguanine-DNA methyltransferase enzyme. Moderate genetic divergence was observed upon comparison to Africans (FST = 0.071 and SD 0.079), with 19 markers exhibiting moderate-to-large genetic differentiation. The average European, African, and Amerindian ancestry proportions were 67.8%, 27.2%, and 5.3%, respectively. Ancestry proportions differed by skin color and birthplace for both African and European components, with the exception of the European component, which showed no significant difference between individuals from Western and Eastern regions. Meanwhile, the statistical significance varied in comparisons by skin color and birthplace within the Amerindian component. Low genetic divergence was observed across geographical regions. We identified 12 variants showing moderate-to-large differentiation between White/Black individuals. Altogether, our results may support national strategies for the introduction of pharmacogenetic tools in clinical practice, contributing to the development of precision medicine in Cuba.

Unraveling the mitochondrial phylogenetic landscape of Thailand reveals complex admixture and demographic dynamics

The evolutionary dynamics of mitochondrial DNA within the Thai population were comprehensively explored with a specific focus on the influence of South Asian admixture. A total of 166 samples were collected through randomized sampling, ensuring a diverse representation. Our findings unveil substantial genetic and haplogroup diversity within the Thai population. We have identified 164 haplotypes categorized into 97 haplogroups, with a notable inclusion of 20 novel haplogroups. The distribution of haplogroups exhibited variations across different populations and countries. The central Thai population displayed a high diversity of haplogroups from both the M and N clades. Maternal lineage affinities were discerned between several Mainland Southeast Asia (MSEA) and South Asian populations, implying ancestral genetic connections and a substantial influence of South Asian women in establishing these relationships. f4-statistics indicates the presence of a Tibeto-Burman genetic component within the Mon population from Thailand. New findings demonstrate two phases of population expansion occurring 22,000–26,000 and 2500–3800 years ago, coinciding with the Last Glacial Maximum, and Neolithic demographic transition, respectively. This research significantly enhances our understanding of the maternal genetic history of Thailand and MSEA, emphasizing the influence of South Asian admixture. Moreover, it underscores the critical role of prior information, such as mutation rates, within the Bayesian framework for accurate estimation of coalescence times and inferring demographic history.

Ancestry and kinship in a Late Antiquity-Early Middle Ages cemetery in the Eastern Italian Alps

In South Tyrol (Eastern Italian Alps), during Late Antiquity-Early Middle Ages, archeological records indicate cultural hybridization among alpine groups and peoples of various origin. Using paleogenomics, we reconstructed the ancestry of 20 individuals (4th-7th cent. AD) from a cemetery to analyze whether they had heterogeneous or homogeneous ancestry and to study their social organization. The results revealed a primary genetic ancestry from southern Europe and additional ancestries from south-western, western, and northern Europe, suggesting that cultural hybridization was accompanied by complex genetic admixture. Kinship analyses found no genetic relatedness between the only two individuals buried with grave goods. Instead, a father-son pair was discovered in one multiple grave, together with unrelated individuals and one possible non-local female. These genetic findings indicate the presence of a high social status familia, which is supported by the cultural materials and the proximity of the grave to the most sacred area of the church.

Demographic modeling of admixed Latin American populations from whole genomes

Demographic models of Latin American populations often fail to fully capture their complex evolutionary history, which has been shaped by both recent admixture and deeper-in-time demographic events. To address this gap, we used high-coverage whole-genome data from Indigenous American ancestries in present-day Mexico and existing genomes from across Latin America to infer multiple demographic models that capture the impact of different timescales on genetic diversity. Our approach, which combines analyses of allele frequencies and ancestry tract length distributions, represents a significant improvement over current models in predicting patterns of genetic variation in admixed Latin American populations. We jointly modeled the contribution of European, African, East Asian, and Indigenous American ancestries into present-day Latin American populations. We infer that the ancestors of Indigenous Americans and East Asians diverged ∼30 thousand years ago, and we characterize genetic contributions of recent migrations from East and Southeast Asia to Peru and Mexico. Our inferred demographic histories are consistent across different genomic regions and annotations, suggesting that our inferences are robust to the potential effects of linked selection. In conjunction with published distributions of fitness effects for new nonsynonymous mutations in humans, we show in large-scale simulations that our models recover important features of both neutral and deleterious variation. By providing a more realistic framework for understanding the evolutionary history of Latin American populations, our models can help address the historical under-representation of admixed groups in genomics research and can be a valuable resource for future studies of populations with complex admixture and demographic histories.

Influence of Dosage and Modulus on Soluble Sodium Silicate for Early Strength Development of Alkali-Activated Slag Cements

In world practice, the need for high-strength concrete with an intensive gain of early strength is due to an increase in requirements for characteristics of concrete and the desire to shorten the construction period. Alkali-activated cement, based on soluble sodium silicates (SSS), can demonstrate high strength and rapid gain due to the nano-modifying effect of amorphous silica present in SSS. However, the problem with the effective use of such cement compositions is unsatisfactory short setting times. This work investigates the effect of modifying admixtures on the structure formation of alkali-activated slag cement (AASC), its physical and mechanical properties depending on characteristics of SSS and the basicity of the aluminosilicate component (precursor), which was changed by the ratio of the ordinary Portland cement (OPC) clinker and granulated blast furnace slag (GBFS). A positive synergistic effect was noticed from glycerol and trisodium phosphate, as the components of a complex admixture, to control the setting of AASC. This resulted in extending the initial setting time from 1 to 5 min to the values of 21–72 min. The compressive strength of 21–26.3 MPa by 3 h, 36.5–43.4 MPa by 1 day, and 84.7–117.1 MPa by 28 days was obtained. Proper shrinkage deformations were equal to 0.47–0.6 mm/m. It was shown that with an increase in the basicity of the aluminosilicate component, the properties of AASC increased both in the early and late stages of hardening.

Fibrocartilaginous lipoma: a clinicopathological analysis of six cases

Objective: To investigate the clinicopathological characteristics, immunophenotype, molecular genetics and differential diagnoses of fibrocartilaginous lipomas which consist of adipose tissue, fibrocartilage and fibrous elements. Methods: The clinicopathological features, immunohistochemical profiles and molecular profiles in six cases of fibrocartilaginous lipomas diagnosed at Foshan Traditional Chinese Medicine Hospital, Fudan University Shanghai Cancer Center, the Fifth Affiliated Hospital of Zhengzhou University and the Fourth Affiliated Hospital of Harbin Medical University from January 2017 to February 2022 were included. The follow-up information, diagnosis and differential diagnoses were evaluated. Results: There were three males and three females with a median age of 53 years (range 36-69 years) at presentation. Tumors were located in the extremities, the head and neck region and trunk; and presented as painless masses that were located in the subcutaneous tissue or deep soft tissue. Grossly, three cases were well defined with thin capsule, one case was well circumscribed without capsule, two cases were surrounded by some skeletal muscle. The tumors were composed of fatty tissue with intermingled gray-white area. The tumors ranged from 1.50-5.50 cm (mean 2.92 cm). Microscopically, the hallmark of these lesions was the complex admixture of mature adipocytes, fibrocartilage and fibrous element in varying proportions; the fibrocartilage arranged in a nodular, sheet pattern with some adipocytes inside. Tumor cells had a bland appearance without mitotic activity. Immunohistochemical analysis using antibodies to SMA, desmin, S-100, SOX9, HMGA2, RB1, CD34, adipopholin was performed in six cases; the fibrocartilage was positive for S-100 and SOX9, adipocytes were positive for S-100, adipopholin and HMGA2; CD34 was expressed in the fibroblastic cells, while desmin and SMA were negative. Loss of nuclear RB1 expression was not observed. Other genetic abnormalities had not been found yet in four cases. Follow-up information was available in six cases; there was no recurrence in five, and one patient only underwent biopsy of the mass. Conclusions: Fibrocartilaginous lipoma is a benign lipomatous tumor with mature adipocytes, fibrocartilage and fibrous elements. By immunohistochemistry, they show the expression of fat and cartilage markers. No specific molecular genetics changes have been identified so far. Familiarity with its clinicopathological features helps the distinction from its morphologic mimics.

Report of an Unusual Case of Hemosiderotic Fibrohistiocytic Lipomatous Tumor with Systematic Review of Clinicopathological Characteristics and Differential Diagnosis

The spectrum of lipomatous lesions ranges from benign to highly malignant disease. Differentiation between these mesenchymal lesions is important for pathologist as well as clinician to indicate prognosis and choose the most appropriate treatment. Hemosiderotic firohistiocytic lipomatous tumor (HFLT) is a rare subtype of lipomatous tumor. The diagnosis is usually based on clinical, histological, and immunohistochemical (IHC) information. We reported a case of 56 years old man with a painful mass in the dorsal aspect of the thigh showing an unusal clinical presentation but a characteristic histological and IHC features. In this article we have retrospectively reviewed the 67 cases of HFLT reported in literature so far along with one case reported at our institution. The review focuses on clinicopathological and histomorphological characteristics of HFLT and the related entities. The hallmark of HFLT and its related lesions is complex admixture of mature adipose tissue, spindle tumor cells with striking deposition of hemosiderin pigment. Even though HFLT shows marked predeliction for the distal extremeties especially the foot/ ankle with a female preponderance, they can occur at uncommon site such as thigh and also in males as seen in our case. Keywords: Pleomorphic hyalinizing angiectatic tumor, Hemosiderotic fibrolipomatous tumor, Myxoinflammatory Fibroblastic Sarcoma, Hemosiderin, Lipoma

Estimating admixture pedigrees of recent hybrids without a contiguous reference genome.

The genome of recently admixed individuals or hybrids has characteristic genetic patterns that can be used to learn about their recent admixture history. One of these are patterns of interancestry heterozygosity, which can be inferred from SNP data from either called genotypes or genotype likelihoods, without the need for information on genomic location. This makes them applicable to a wide range of data that are often used in evolutionary and conservation genomic studies, such as low-depth sequencing mapped to scaffolds and reduced representation sequencing. Here we implement maximum likelihood estimation of interancestry heterozygosity patterns using two complementary models. We furthermore develop apoh (Admixture Pedigrees of Hybrids), a software that uses estimates of paired ancestry proportions to detect recently admixed individuals or hybrids, and to suggest possible admixture pedigrees. It furthermore calculates several hybrid indices that make it easier to identify and rank possible admixture pedigrees that could give rise to the estimated patterns. We implemented apoh both as a command line tool and as a Graphical User Interface that allows the user to automatically and interactively explore, rank and visualize compatible recent admixture pedigrees, and calculate the different summary indices. We validate the performance of the method using admixed family trios from the 1000 Genomes Project. In addition, we show its applicability on identifying recent hybrids from RAD-seq data of Grant's gazelle (Nanger granti and Nanger petersii) and whole genome low-depth data of waterbuck (Kobus ellipsiprymnus) which shows complex admixture of up to four populations.

A genetic and linguistic analysis of the admixture histories of the islands of Cabo Verde.

From the 15th to the 19th century, the Trans-Atlantic Slave-Trade (TAST) influenced the genetic and cultural diversity of numerous populations. We explore genomic and linguistic data from the nine islands of Cabo Verde, the earliest European colony of the era in Africa, a major Slave-Trade platform between the 16th and 19th centuries, and a previously uninhabited location ideal for investigating early admixture events between Europeans and Africans. Using local-ancestry inference approaches, we find that genetic admixture in Cabo Verde occurred primarily between Iberian and certain Senegambian populations, although forced and voluntary migrations to the archipelago involved numerous other populations. Inter-individual genetic and linguistic variation recapitulates the geographic distribution of individuals' birth-places across Cabo Verdean islands, following an isolation-by-distance model with reduced genetic and linguistic effective dispersals within the archipelago, and suggesting that Kriolu language variants have developed together with genetic divergences at very reduced geographical scales. Furthermore, based on approximate bayesian computation inferences of highly complex admixture histories, we find that admixture occurred early on each island, long before the 18th-century massive TAST deportations triggered by the expansion of the plantation economy in Africa and the Americas, and after this era mostly during the abolition of the TAST and of slavery in European colonial empires. Our results illustrate how shifting socio-cultural relationships between enslaved and non-enslaved communities during and after the TAST, shaped enslaved-African descendants' genomic diversity and structure on both sides of the Atlantic.

Abstract 1945: Racial disparities in comprehensive cancer tumor profiling testing from real-world data of 100,000 cancer patient records

Abstract Inequities in cancer patient outcomes and healthcare utilization by race and ethnicity are coming to the forefront. Overcoming these inequities requires a better understanding of the extent of such disparities across cancer types and medical interventions. Here, we studied the race and ethnicity of patients receiving tumor profiling for therapy decision support by examining real-world data (RWD) from 100,000 de-identified patient records across major cancer types. Tumors and normal tissue (when available) were sequenced with the Tempus xT assay, a 648-gene next-generation sequencing panel. Since race and ethnicity metadata are frequently incomplete in RWD, we imputed these categories from continental genetic ancestry inferred from genotypes of 654 ancestry informative markers obtained from sequencing data. Using a heuristic that combines East Asian, African, Amerindian, European, and South Asian ancestry proportions, we imputed Asian (A), Non-Hispanic Black (NHB), Hispanic/Latino/Native American (HIS), and Non-Hispanic White (NHW) categories with <2% error rate (based on available metadata), leaving 3% of unclassified patients due to complex admixture. NHW patients are overrepresented in the cohort at 72% as compared to NHB (11%), HIS (9%) and ASN (5%). We compared the distributions of patients by race/ethnicity categories across specific cancer types against the overall cohort race/ethnicity distributions. These distributions were compared to the expected distribution under the null hypothesis of no relationship by the χ2 test of independence. Significantly (p<0.05) over/under-represented categories in each cancer type were compared to ranks of incidence by race/ethnicities in SEER program data at the national level. Differences are of a smaller magnitude in NHW as compared to the other races/ethnicities. We observed several differences that are concordant with SEER; for example, overrepresentations of NHB in breast, colorectal, and endometrial cancers, which correspond to high incidences of these cancers for NHB. Notably, we observed several discordances with SEER incidence rate ranks, including underrepresentation of NHB in pancreatic and urinary tract cancers, underrepresentation of NHW in breast and colorectal cancers, overrepresentation of ASN in gallbladder and biliary cancer, and overrepresentation of HIS in colorectal cancer. These differences can be the result of a complex interplay of factors, such as stage of the disease at sequencing, access to early-stage curative therapies, comorbidities/cofactors, access to care, insurance, socioeconomic status, and others. Nonetheless, our results show that analysis of racial disparities can be performed with RWD, and this information can be useful in studying causes and devising strategies to improve healthcare equity. Citation Format: Francisco M. De La Vega, Brooke Rhead, Yannick Pouliot, Justin Guinney. Racial disparities in comprehensive cancer tumor profiling testing from real-world data of 100,000 cancer patient records [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 1945.

Multiple founding paternal lineages inferred from the newly-developed 639-plex Y-SNP panel suggested the complex admixture and migration history of Chinese people

BackgroundNon-recombining regions of the Y-chromosome recorded the evolutionary traces of male human populations and are inherited haplotype-dependently and male-specifically. Recent whole Y-chromosome sequencing studies have identified previously unrecognized population divergence, expansion and admixture processes, which promotes a better understanding and application of the observed patterns of Y-chromosome genetic diversity.ResultsHere, we developed one highest-resolution Y-chromosome single nucleotide polymorphism (Y-SNP) panel targeted for uniparental genealogy reconstruction and paternal biogeographical ancestry inference, which included 639 phylogenetically informative SNPs. We genotyped these loci in 1033 Chinese male individuals from 33 ethnolinguistically diverse populations and identified 256 terminal Y-chromosomal lineages with frequency ranging from 0.0010 (singleton) to 0.0687. We identified six dominant common founding lineages associated with different ethnolinguistic backgrounds, which included O2a2b1a1a1a1a1a1a1-M6539, O2a1b1a1a1a1a1a1-F17, O2a2b1a1a1a1a1b1a1b-MF15397, O2a2b2a1b1-A16609, O1b1a1a1a1b2a1a1-F2517, and O2a2b1a1a1a1a1a1-F155. The AMOVA and nucleotide diversity estimates revealed considerable differences and high genetic diversity among ethnolinguistically different populations. We constructed one representative phylogenetic tree among 33 studied populations based on the haplogroup frequency spectrum and sequence variations. Clustering patterns in principal component analysis and multidimensional scaling results showed a genetic differentiation between Tai-Kadai-speaking Li, Mongolic-speaking Mongolian, and other Sinitic-speaking Han Chinese populations. Phylogenetic topology inferred from the BEAST and Network relationships reconstructed from the popART further showed the founding lineages from culturally/linguistically diverse populations, such as C2a/C2b was dominant in Mongolian people and O1a/O1b was dominant in island Li people. We also identified many lineages shared by more than two ethnolinguistically different populations with a high proportion, suggesting their extensive admixture and migration history.ConclusionsOur findings indicated that our developed high-resolution Y-SNP panel included major dominant Y-lineages of Chinese populations from different ethnic groups and geographical regions, which can be used as the primary and powerful tool for forensic practice. We should emphasize the necessity and importance of whole sequencing of more ethnolinguistically different populations, which can help identify more unrecognized population-specific variations for the promotion of Y-chromosome-based forensic applications.

Tunable Superconductivity and Möbius Fermi Surfaces in an Inversion-Symmetric Twisted van der Waals Heterostructure

We theoretically study a moiré superlattice geometry consisting of mirror-symmetric twisted trilayer graphene surrounded by identical transition metal dichalcogenide layers. We show that this setup allows us to switch on or off and control the spin-orbit splitting of the Fermi surfaces via application of a perpendicular displacement field D_{0} and explore two manifestations of this control: first, we compute the evolution of superconducting pairing with D_{0}; this features a complex admixture of singlet and triplet pairing and, depending on the pairing state in the parent trilayer system, phase transitions between competing superconducting phases. Second, we reveal that, with application of D_{0}, the spin-orbit-induced spin textures exhibit vortices which lead to "Möbius fermi surfaces" in the interior of the Brillouin zone: diabatic electron trajectories, which are predicted to dominate quantum oscillation experiments, require encircling the Γ point twice, making their Möbius nature directly observable. Further, we show that the superconducting order parameter inherits the unconventional, Möbius spin textures. Our findings suggest that this system provides a promising experimental avenue for systematically studying the impact of spin-orbit coupling on the multitude of topological and correlated phases in near-magic-angle twisted trilayer graphene.

A Complex Organomineral Admixture For Cement Saving

The aim of the research is to prepare a composition of a complex organomineral admixture based on industrial waste for cement saving, to experimentally establish the optimum crushing degree of an ash-and-slag waste composition and to estimate the ratio between mineral and organic components of the complex admixture, ensuring the possibility of reducing cement consumption without loss of concrete strength. As a mineral component of the complex admixture the wastes from thermoelectric power stations were used, representing by an ash-and-slag waste composition crushed to a fine powder condition. Optimization of the complex admixture is carried out using mathematical methods of the theory of planning experiments.
 As a result of this research a quadratic polynomial model of influence of crushing fineness of ash-and-slag wastes and cement consumption on concrete strength has been obtained. It is established, that depending on the degree of crushing of ash-and-slag waste composition within values of specific surface of received powder from 2400 to 4000 cm2/g it is possible to reduce cement consumption by 8-18 % without loss in strength of concrete. The introduction of complex organomineral admixtures into concrete is very effective as it saves cement. However, special studies are required in each case. The compositions of the new complex admixtures are tested on the basis of traditional raw materials, and economic efficiency in saving cement is established. It is proposed to use the methodology of mathematical modelling of the technological complex system under study, presented in this article.

Genetic and socioeconomic modulation of biomarkers

AbstractIntroductionIdentification and measurement of biomarkers has become a key component of much research in the neurodegeneration field, particularly in research linking psychosocial stressors and brain health. Socioeconomic position may influence neurodegeneration through several pathways, including behaviors and psychosocial stress levels, both of which may influence biological markers of inflammation, coagulation, and adhesion. Underserved populations, particularly from low‐to‐middle‐income countries in Latin America (LMICs), are more likely to have experienced poor, chronic stress due to discrimination, limited educational and occupational opportunities, and minimal access to social support and health care. All of these factors can modify neurodegenerative disease risk and clinical progression of dementia, in part through changes in immune function. Complicating matters, few studies have characterized inflammatory biomarker levels in LMICs, where biological and environmental exposures likely modify immune profiles. Finally, the effect of complex genetic admixture on both baseline and disease‐associated inflammatory biomarker levels remains underexplored, greatly limiting the generalizability of dementia biomarkers (beta amyloid, tau, neurofilament) that were largely developed in homogenous populations.MethodWe propose to review the existing evidence and present our ongoing study fostered in the Multi‐Partner Consortium to Expand Dementia Research in Latin America (ReDLat) cohort divided into three groups: participants with Alzheimer´s Dementia (AD), participants with Frontotemporal Dementia (FTD), and controls. We will comprehensively assess gene and protein expression measures of immune function in blood to identify single and combined measurements that provide sensitive and specific distinction between AD and FTD and all cases from controls. In addition, we will assess the modulatory effect that social determinants of health (SDOH) have on these biological biomarkers.Expected ResultsOur expected outcome is to understand how SDOH contribute to gene and protein expression measures of immune function and how they modify the gold standard biomarkers of disease and risk for AD and FTD in Latin America.ConclusionsNew opportunities for identifying novel diagnostic and therapeutic inroads may be easier to detect in Latin American populations that display a greater environmental and genomic diversity, while simultaneously elucidating potential strategies for reducing health disparities in Americans who face similar SDOH challenges.

Genomic insights into the genetic structure and population history of Mongolians in Liaoning Province

The Mongolian population exceeds six million and is the largest population among the Mongolic speakers in China. However, the genetic structure and admixture history of the Mongolians are still unclear due to the limited number of samples and lower coverage of single-nucleotide polymorphism (SNP). In this study, we genotyped genome-wide data of over 700,000 SNPs in 38 Mongolian individuals from Fuxin in Liaoning Province to explore the genetic structure and population history based on typical and advanced population genetic analysis methods [principal component analysis (PCA), admixture, FST, f 3 -statistics, f 4 -statistics, qpAdm/qpWave, qpGraph, ALDER, and TreeMix]. We found that Fuxin Mongolians had a close genetic relationship with Han people, northern Mongolians, other Mongolic speakers, and Tungusic speakers in East Asia. Also, we found that Neolithic millet farmers in the Yellow River Basin and West Liao River Basin and Neolithic hunter–gatherers in the Mongolian Plateau and Amur River Basin were the dominant ancestral sources, and there were additional gene flows related to Eurasian Steppe pastoralists and Neolithic Iranian farmers in the gene pool of Fuxin Mongolians. These results shed light on dynamic demographic history, complex population admixture, and multiple sources of genetic diversity in Fuxin Mongolians.

Insight into resistance to 'Candidatus Liberibacter asiaticus,' associated with Huanglongbing, in Oceanian citrus genotypes.

Huanglongbing (HLB), the most destructive citrus disease, is associated with unculturable, phloem-limited Candidatus Liberibacter species, mainly Ca. L. asiaticus (Las). Las is transmitted naturally by the insect Diaphorina citri. In a previous study, we determined that the Oceanian citrus relatives Eremocitrus glauca, Microcitrus warburgiana, Microcitrus papuana, and Microcitrus australis and three hybrids among them and Citrus were full-resistant to Las. After 2 years of evaluations, leaves of those seven genotypes remained Las-free even with their susceptible rootstock being infected. However, Las was detected in their stem bark above the scion-rootstock graft union. Aiming to gain an understanding of the full-resistance phenotype, new experiments were carried out with the challenge-inoculated Oceanian citrus genotypes through which we evaluated: (1) Las acquisition by D. citri fed onto them; (2) Las infection in sweet orange plants grafted with bark or budwood from them; (3) Las infection in sweet orange plants top-grafted onto them; (4) Las infection in new shoots from rooted plants of them; and (5) Las infection in new shoots of them after drastic back-pruning. Overall, results showed that insects that fed on plants from the Oceanian citrus genotypes, their canopies, new flushes, and leaves from rooted cuttings evaluated remained quantitative real-time polymerase chain reaction (qPCR)-negative. Moreover, their budwood pieces were unable to infect sweet orange through grafting. Furthermore, sweet orange control leaves resulted infected when insects fed onto them and graft-receptor susceptible plants. Genomic and morphological analysis of the Oceanian genotypes corroborated that E. glauca and M. warburgiana are pure species while our M. australis accession is an M. australis × M. inodora hybrid and M. papuana is probably a M. papuana × M. warburgiana hybrid. E. glauca × C. sinensis hybrid was found coming from a cross between E. glauca and mandarin or tangor. Eremocitrus × Microcitrus hybrid is a complex admixture of M. australasica, M. australis, and E. glauca while the last hybrid is an M. australasica × M. australis admixture. Confirmation of consistent full resistance in these genotypes with proper validation of their genomic parentages is essential to map properly genomic regions for breeding programs aimed to generate new Citrus-like cultivars yielding immunity to HLB.