Search Results (125)

A genetic linkage map of Grifola albicans f. huishuhua (Maitake) is an important resource for chromosome analysis and the genetic basis of phenotypic variation determination. A total of 92 monokaryotic isolates were selected from the F1 generation of Q3-8 × Y1-18 in this study. Restriction site-associated DNA sequencing, as well as identification of single nucleotide polymorphisms (SNPs), was performed, aiming to illustrate a high-density genetic linkage map. A total of 1122 high-quality SNP markers were located on a map with a length of 1473.60 centimorgan (cM) by screening 589534 SNPs. This map covers 12 linkage groups (LGs) with an average genetic distance of 122.80 cM. Three quantitative trait loci (QTLs) related to the growth rate of G. albicans f. huishuhua strains were identified using the composite interval mapping method. These QTLs were mapped to linkage groups (LGs) as follows: LG3 (qmgv), LG4 (qmb), LG5 (qmd), LG8 (qrdm1, qrdm2), and LG10 (qmgrc1, qmgrc2, qmgrc3). The genes associated with mycelial growth rate and biomass production of these strains were identified. This information could be used for molecular marker-assisted selective breeding in G. albicans f. huishuhua. Full article

The family name Hay (plus associated spelling variants) is a prominent Anglo-Norman-in-origin surname that has been well-documented as a Scottish noble lineage since the 12th century CE. Their historical significance, linked to the rise in the Anglo-Norman era (1093–1286 CE) in Scotland, and the historical complexities of surname adoption post-Norman conquest of England, justifies the need for a comprehensive understanding of the genetic history of the Hay noble lineage. This study focuses on examining the patterns of paternal inheritance in lineages with the Hay surname. We conducted a comprehensive analysis of Y-chromosome data that is publicly available on the Family Tree DNA (FTDNA) platform, and specific FTDNA surname projects, as well as looking in more detail at three well-documented male-line descendants of William II de la HAYA, 1st of Erroll (d. 1201) that have been verified to a high degree of confidence. Our results reveal that all descendants of William II de la HAYA, 1st of Erroll (d. 1201) derive from the multigenerational Y-SNPs R1a-YP6500 (plus equivalent SNPs BY33394/FT2017) and R1a-FTT161. Furthermore, subclades of R1a-FTT161 have been identified that confirm direct male-line descent from two of William II de la HAYA’s sons. Subclade R1a-BY199342 (plus equivalents) confirms direct male-line descent from David de la HAYA, 2nd of Erroll (d. 1241), and subclade R1a-FTA7312 confirms direct male-line descent from Robert de la HAYA of Erroll. The result also confirms that the Hay noble lineage shares the Y-SNP R1a-YP4138 (estimated to have occurred in 832 CE) with several non-Hay test takers that have surnames of Norman origin, therefore providing further evidence to support the Norman origin hypothesis for these surnames. In addition to the identification of multigenerational Y-SNPs associated with documented Hay noblemen, this study has observed significant Y-DNA haplogroup diversity among males with the surname Hay (plus associated spelling variants: Hays, Haye, Hayes, Hey and Haya). Our results show that only 22% of the men sampled (n = 109) with the surname Hay (plus associated spelling variation) are descended from the 12th-century progenitor of the noble Hay lineage of Scotland. Therefore, this confirms that a significant proportion of males with the surname Hay do not descend from the noble progenitor of the Scottish Hay lineage of Erroll. Full article

Malaria is a major public health challenge in low- and middle-income countries with significant socio-economic impacts. While chemotherapy has greatly contributed to malaria control, the widespread emergence of resistance to antimalarial drugs threatens progress towards elimination goals. In parallel, the recent rollout of the RTS,S/AS01 and R21/Matrix-M malaria vaccine—targeting the Plasmodium falciparum circumsporozoite protein (CSP)—offers a new prevention tool but may be influenced by parasite genetic diversity. This study investigated the genetic architecture of Plasmodium falciparum circulating in a community in the Southwest Region of Cameroon. Seventy-two blood samples were analyzed using targeted Oxford Nanopore sequencing of pfcrt, pfmdr1, pfdhfr, pfdhps, pfkelch13 and pfcsp genes. We observed a high prevalence of pfdhfr mutations (98.6% N51I, 98.6% C59R, 97.7% S108N) and pfmdr1 Y184F (76.1%) mutation. Mutations in pfdhps (54.2% S436A, 2.8% A437G, 38.9% A581G) were also observed. No WHO-validated pfkelch13 artemisinin resistance markers were found; however, K189T (63.4%) and R255K (4.2%) variants were detected. Nineteen non-synonymous SNPs were identified in pfcsp, reflecting natural background variations as vaccination status was not known. These findings support the continued use of artemisinin-based combination therapies and underscores the need for sustained molecular surveillance of both antimalarial drug resistance and vaccine-related polymorphisms, to inform malaria control strategies. Full article

(1) Background: Water buffaloes (Bubalus bubalis) are important for dairy and meat production. Up to now, genomic analysis has focused on female subjects, leaving the Y chromosome essentially unknown. Advances in third-generation sequencing (TGS) made it possible to improve the study of complex genome sequences, such as buffalo and other mammalian species including humans. (2) Methods: In this study, we applied TGS-based long-read sequencing to generate, in one step, high-quality whole-genome sequences, which can take full advantage of a rapid bioinformatic pipeline, such as that described in the companion paper. (3) Results: Five male buffalo genomes have been fully sequenced at relatively high depth (20–40×) which, combined with the read length typical of TGS, provide the basis for important insights into male-specific genetic traits, including those linked to meat and milk production. (4) Conclusions: With the use of TGS technologies, we offer a complete strategy for fast, one-step genome sequencing which can also be applied to other farm animals with a comparably large genome. This approach can help in revealing genetic features characteristic of an animal individual beyond the simple assessment of a number of SNPs or other known sequence variations, thus supporting improved genetic selection for dairy productivity and future research on genetic variability in buffalo breeds. Full article

Background/Objectives: The eastern periphery of the Slavic expansion (the Volga-Oka region) is the most promising region for reconstructing interactions between Slavic and pre-Slavic populations of the East European Plain. Unlike most pre-Slavic tribes, its autochthonous population practiced inhumation instead of cremation, leaving us with some ancient DNA for analysis. Methods: The region’s modern and ancient Y-chromosome gene pools are dominated by the haplogroup R1a: its frequency reaches 56% in Ryazan Russians (n = 302) and 44% in the Finnic peoples of Mordovia (n = 633). This encouraged us to analyze its Y-SNPs and Y-STRs. Results: Using 2 independent methods of phylogeny analysis, we identified 10 informative Y-STR clusters within R1a, dating back 1600–2900 YBP. The clusters included 48% of modern Ryazan Russians, 40% of Mordovia’s Finnic populations, and ancient DNA samples from the Ryazan-Oka culture (6–7th centuries), Suzdal (12–13th centuries) and Vladimir (13th century). Such a unique combination and pre-Slavic TMRCA indicate that the informative clusters represent pre-Slavic Y lineages. The presence of ancient samples from Vladimir and Suzdal in the clusters suggests that the autochthonous tribes contributed to shaping the urban population of the Vladimir-Suzdal Rus. Some of the informative clusters are associated with the ancient population of the Baltics (2000–4000 YBP). Conclusions: About half of Russian R1a carriers in the Volga-Oka region are descended from a pre-Slavic population, suggesting that the Slavs did not fully replace the autochthonous population but rather mostly culturally assimilated the Meshchyora documented in the Russian chronicles and other local tribes. Full article

Background/Objectives: DNA analysis can be used to expand our understanding of extinct populations and the history of the world and humankind. Dental cavities often contain uncontaminated remains of ancient DNA (aDNA). Archaeological excavations are a convenient source for various samples; however, in almost all extraction methods, a piece of bone or tooth is powdered before extraction, thereby causing damage to archaeological samples that are often irreplaceable and unique. This study aimed to develop a method that enables the collection of DNA from teeth without causing significant damage. Methods: This study presents two methods of DNA extraction from teeth: destructive and non-destructive. Both contemporary and archaeological teeth were examined using both destructive and non-destructive approaches to compare their efficiency. To verify the results, methods such as quantitative RT-PCR, STR analysis, and Y-SNP analysis were employed. Results: Extraction efficiency plays a critical role in this field of research. The main steps of the DNA extraction method were compared and optimized based on purification and using quantitative PCR. Conclusions: The results demonstrate that a non-destructive method of DNA isolation from human teeth can be used successfully, especially when teeth are unique and cannot be destroyed during the examination process. This method yields an appropriate amount of DNA for sequencing. Full article

Disease resistance is one of the most important target traits for sugarcane genetic improvement. Sugarcane brown stripe (SBS) caused by Helminthosporium stenospilum is one of the most destructive foliar diseases, which not only reduces harvest cane yield but also sugar content. This study aimed to identify quantitative trait loci (QTL) and candidate genes associated with SBS resistance. Here, the phenotypic investigation in six field habitats showed a continuous normal distribution, revealing that the SBS resistance trait is a quantitative trait. Two high-density linkage maps based on the single-dose markers calling from the Axiom Sugarcane100K SNP chip were constructed for the dominant sugarcane cultivars YT93-159 (SBS-resistant) and ROC22 (SBS-susceptible) with a density of 2.53 cM and 2.54 cM per SNP marker, and mapped on 87 linkage groups (LGs) and 80 LGs covering 3069.45 cM and 1490.34 cM of genetic distance, respectively. A total of 32 QTL associated with SBS resistance were detected by QTL mapping, which explained 3.73–11.64% of the phenotypic variation, and the total phenotypic variance explained (PVE) in YT93-159 and ROC22 was 107.44% and 79.09%, respectively. Among these QTL, four repeatedly detected QTL (qSBS-Y38-1, qSBS-Y38-2, qSBS-R8, and qSBS-R46) were considered stable QTL. Meanwhile, two major QTL, qSBS-Y38 and qSBS-R46, could account for 11.47% and 11.64% of the PVE, respectively. Twenty-five disease resistance candidate genes were screened by searching these four stable QTL regions in their corresponding intervals, of which Soffic.01G0010840-3C (PR3) and Soffic.09G0017520-1P (DND2) were significantly up-regulated in YT93-159 by qRT-PCR, while Soffic.01G0040620-1P (EDR2) was significantly up-regulated in ROC22. These results will provide valuable insights for future studies on sugarcane breeding in combating this disease. Full article

The SMC-5/6 complex safeguards genome stability through the coordinated action of its core SMC proteins and associated NSE subunits. NSE-1 is a key component of the complex and is essential for DNA repair, yet it remains poorly characterized in Caenorhabditis elegans. To further elucidate the functional mechanisms of NSE-1, we performed an EMS-based forward genetic screen in an nse-1::gfp(wsh1) reporter strain to identify mutants with defective NSE-1 expression or nuclear localization. We isolated three mutants; smc-5(wsh31), smc-5(wsh32), and smc-5(wsh33), that display impaired NSE-1::GFP nuclear localization. SNP mapping and whole-genome sequencing revealed three novel smc-5 alleles: two truncations, alleles smc-5(wsh31) (C587*) and smc-5(wsh32) (Q655*), and one missense variant, smc-5(wsh33) (Y975D), each altering a highly conserved residue in the SMC domain. All three mutants exhibited significantly reduced brood size, progeny viability, and slightly elevated male percentages. Phenotypic characterization revealed that the truncations completely abrogate NSE-1::GFP nuclear localization, whereas the missense allele causes stage-dependent, partial mislocalization. Functional assays further demonstrated allele-specific and developmental stage-dependent hypersensitivities to DNA-damaging agents (MMS, HU, and cisplatin). These separation-of-function smc-5 alleles underscore the importance of domains and conserved residues in complex integrity and genome maintenance, and provide powerful genetic tools to dissect SMC-5/6 functions in vivo. Full article

Background/Objectives: The Carpathian Basin is a genetically and culturally diverse region shaped by complex historical migrations and various ethnic groups. While studies based on Y-chromosomal and mitochondrial DNA have provided valuable insights into the genetic diversity of these populations, genome-wide autosomal SNP data remain underutilized in understanding the genetic structure of these groups. This study presents the first genome-wide autosomal SNP-based analysis of key Hungarian-speaking ethnic groups in the region, focusing on admixture patterns and the extent of preserved historical genetic components. Methods: We analyzed genome-wide autosomal SNP data from 597 individuals representing several ethnic groups in the Carpathian Basin. Standard population genetic methods were applied to assess genetic structure, admixture and differentiation, with comparisons to broader European reference populations. Results: Most ethnic groups displayed genetic affinities with Eastern European populations, consistent with historical and geographical proximity. The Swabian group, of German descent, exhibited a distinct Western European genetic component, likely due to historical isolation. Transylvanian populations appeared relatively homogeneous, indicating a shared ancestral background. In contrast, Csangos showed distinct sub-clusters, suggesting population isolation and distinct histories. Overall, genetic homogeneity characterizes the region, though certain isolated groups retain distinct ancestral signatures. Conclusions: Autosomal SNP analysis revealed mild overall genetic structuring among Carpathian Basin ethnic groups. However, historical isolation has preserved unique genetic components in specific groups, highlighting the value of genome-wide data in uncovering fine-scale population structure. These findings contribute to a deeper understanding of regional genetic diversity, which has implications for both population history and health-related genetic research. Full article

The direct-seeded rice (DSR) system is poised to become the dominant rice cultivation method due to its advantages, including reduced water usage, less labor requirements, decreased greenhouse gas emissions, and improved adaptation to climate change. However, weeds, particularly jungle rice (Echinochloa colona), significantly hinder DSR and cause substantial yield losses. This study aimed to develop rice cultivars competitive against jungle rice through selective breeding, focusing on early seed germination (ESG) and seedling vigor (ESV). We utilized 181 early-backcross selective introgression breeding lines (EB-SILs) developed using Green Super Rice (GSR) technology by backcrossing Weed Tolerant Rice1 (WTR1) with three donor parents, Haoannong, Cheng Hui 448, and Y134. Using the tunable genotyping-by-sequencing (tGBS^®, Data2Bio Technologies, Ames, IA, USA) method, we identified 3971 common single nucleotide polymorphisms (SNPs) that facilitated the mapping of 19 novel quantitative trait loci (QTLs) associated with weed competitiveness—eight linked to ESG traits and eleven to ESV traits. Notably, all QTLs were novel except qRPH1, linked to relative plant height at 14 and 21 days after sowing. Key QTLs were located on chromosomes 2, 3, 5, 6, 8, 9, 10, and 12. Candidate genes identified within these QTLs are implicated in the plant’s response to various abiotic and biotic stresses. Our findings enhance the understanding of the genetic basis for ESG and ESV traits critical for weed competitiveness, supporting marker-assisted and genomic selection approaches for breeding improved rice varieties. Furthermore, this research lays the groundwork for employing gene expression, cloning, and CRISPR editing strategies to combat jungle rice, with potential applications for other weed species and contributing to effective integrated weed management in the DSR system. Full article

This study aimed to identify single nucleotide polymorphism (SNP) loci within the coding sequence of the neuropeptide Y (NPY) gene and evaluate their association with egg production traits in Thai native chickens. The goal was to enhance productivity through selective breeding. A total of 117 chickens, including three Thai native breeds and commercial laying hens, were analyzed. The phenotypic traits measured included age at first egg production (AFEP), first egg weight (FEW), egg weight at 9 months (EW_9M) and 12 months (EW_12M) of egg production period, number of eggs at 9 months (NE_9M) and 12 months (NE_12M) of egg production period, number of eggs per month (EperM), and egg mass (EMs). The NPY gene was sequenced to examine the association between these traits and specific genotypes. The results showed that commercial laying hens (LC) significantly outperformed native breeds in overall egg production. Among the native breeds, Pradu Hang Dum (PH) demonstrated the earliest laying age and the highest cumulative egg production. Genetic diversity analysis revealed moderate heterozygosity levels (PIC = 0.22 to 0.50, He = 0.26 to 0.50). Specific SNP loci (SNP1, SNP2, SNP3, SNP4, SNP5, and SNP6) were found to be associated with key egg production traits, such as AFEP, FEW, EW_9M, EW_12M, NE_9M, NE_12M, EperM, and EMs. These findings highlight the potential of using genetic markers for improving egg production traits in Thai native chickens. By incorporating marker-assisted selection into breeding programs, this research supports the development of more efficient and sustainable poultry farming practices, particularly for local breeds. This study also underscores the importance of preserving genetic diversity while enhancing productivity, ensuring the long-term sustainability of native chicken populations. Full article

Pathogenic Y. enterocolitica’s contamination of cheeks, tongues, and other pork meats at retail was assessed in 2023, over 9 months. A total of 111 samples of cheeks, 104 of tongues, and 160 of fresh meat were taken at retail from the 13 regions of mainland France. The level of contamination was 16.0%, with a higher contamination in tongues (39.4%), followed by cheeks (16.4%). Only one meat sample was contaminated. Of the 128 isolated strains, 97.6% were of the BT4 biotype. Depending on the method used to check the presence of the plasmid—yadA-PCR, CR-MOX testing, or sequencing—the results were not consistent for some strains, but most of the strains (≥ to 65%) had the virulent plasmid pYV. All the BT4 strains (except two strains) carried the sequence ST18; they were distributed in 54 cgMLST genotypes. The genetic diversity of the strains was very high, whatever the typing method used, including cgMLST, wgMLST, and cgSNP. There was higher contamination in tongues and cheeks, and lower contamination in meat, suggesting that the head deboning step is riskier than the evisceration step for contamination by pathogenic Y. enterocolitica. This pathogen remains a zoonotic agent of public health importance to be monitored in pigs. Full article

Prion diseases are fatal neurodegenerative diseases that can be transmitted by infectious protein particles, PrP^Scs, encoded by the endogenous prion protein gene (PRNP). The origin of prion seeds is unclear, especially in non-human hosts, and this identification is pivotal to preventing the spread of prion diseases from host animals. Recently, an abnormally high amyloid propensity in prion proteins (PrPs) was found in a frog, of which the genetic variations in the PRNP gene have not been investigated. In this study, genetic polymorphisms in the PRNP gene were investigated in 194 Dybowski’s frogs using polymerase chain reaction (PCR) and amplicon sequencing. We carried out in silico analyses to predict functional alterations according to non-synonymous single nucleotide polymorphisms (SNPs) using PolyPhen-2, PANTHER, SIFT, and MutPred2. We used ClustalW2 and MEGA X to compare frog PRNP and PrP sequences with those of prion-related animals. To evaluate the impact of the SNPs on protein aggregation propensity and 3D structure, we utilized AMYCO and ColabFold. We identified 34 novel genetic polymorphisms including 6 non-synonymous SNPs in the frog PRNP gene. The hydrogen bond length varied at codons 143 and 207 according to non-synonymous SNPs, even if the electrostatic potential was not changed. In silico analysis predicted S143N to increase the aggregation propensity, and W6L, C8Y, R211W, and L241F had damaging effects on frog PrPs. The PRNP and PrP sequences of frogs showed low homology with those of prion-related mammals. To the best of our knowledge, this study was the first to discover genetic polymorphisms in the PRNP gene in amphibians. Full article

Faba bean (Vicia faba L.) is a valuable ingredient in plant-based foods such as meat and dairy analogues. However, its typical taste and aroma are considered off-flavours in these food applications, representing a bottleneck during processing. Breeding is needed to develop varieties with minimal off-flavours and high protein content. The genetic regulation of these traits is underexplored. To dissect their genetic architecture, we performed a genome-wide association study (GWAS). A total of 245 faba bean accessions (the CGN population) were genotyped using the 90K-SPET targeted assay. These accessions were phenotyped in 2021 and 2022 in the Netherlands for protein, oil, fatty acids, lipid-derived products, phenolic acids, flavonoids, and tannins. The CGN population showed large phenotypic variation and moderate-to-high narrow-sense heritability for most traits. The growing environment significantly affected all traits, with trait-specific genotype-by-year (GxY) interactions. Condensed tannins and fatty acids were the most stable across the two years and had the highest heritability estimates (h² > 0.6). GWAS identified a total of 148 single nucleotide polymorphisms (SNPs) loci in 2021 and 167 in 2022. Key candidate regulators included genes involved in lipid biosynthesis (ATS2, KAS, LPP), amino acid transport (CAT4) for protein storage, zero tannins locus-1 (zt-1), and regulators of the phenylpropanoid pathway, such as a shikimate kinase gene and transcription factors bHLH137-like and MYB. These results pave the way for validation studies and biotechnological applications to improve the quality of faba bean-based foods. Full article

Background: Eastern Finnic populations, including Karelians, Veps, Votes, Ingrians, and Ingrian Finns, are a significant component of the history of Finnic populations, which have developed over ~3 kya. Yet, these groups remain understudied from a genetic point of view. Methods: In this work, we explore the gene pools of Karelians (Northern, Tver, Ludic, and Livvi), Veps, Ingrians, Votes, and Ingrian Finns using Y-chromosome markers (N = 357) and genome-wide autosomes (N = 67) and in comparison with selected Russians populations of the area (N = 763). The data are analyzed using statistical, bioinformatic, and cartographic methods. Results: The autosomal gene pool of Eastern Finnic populations can be divided into two large categories based on the results of the PCA and ADMIXTURE modeling: (a) “Karelia”: Veps, Northern, Ludic, Livvi, and Tver Karelians; (b) “Ingria”: Ingrians, Votes, Ingrian Finns. The Y-chromosomal gene pool of Baltic Finns is more diverse and is composed of four genetic components. The “Northern” component prevails in Northern Karelians and Ingrian Finns, the “Karelian” in Livvi, Ludic, and Tver Karelians, the “Ingrian-Veps” in Ingrians and Veps (a heterogeneous cluster occupying an intermediate position between the “Northern” and the “Karelian” ones), and the “Southern” in Votes. Moreover, our phylogeographic analysis has found that the Y-haplogroup N3a4-Z1927 carriers are frequent among most Eastern Finnic populations, as well as among some Northern Russian and Central Russian populations. Conclusions: The autosomal clustering reflects the major areal groupings of the populations in question, while the Y-chromosomal gene pool correlates with the known history of these groups. The overlap of the four Y-chromosomal patterns may reflect the eastern part of the homeland of the Proto-Finnic gene pool. The carriers of the Y-haplogroup N3a4-Z1927, frequent in the sample, had a common ancestor at ~2.4 kya, but the active spread of N3a4-Z1927 happened only at ~1.7–2 kya, during the “golden” age of the Proto-Finnic culture (the archaeological period of the “typical” Tarand graves). A heterogeneous Y-chromosomal cluster containing Ingrians, Veps, and Northern Russian populations, should be further studied. Full article