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At least 19 recordsLinked to original sources
PubMed2026

Maternal secretor status and human milk oligosaccharides influence the infant gut resistome.

The infant gut resistome is established early in life and is shaped by perinatal exposures, yet the mechanisms underlying its modulation remain unclear. We combined shotgun metagenomics of fecal samples from 57 one-month-old infants and paired milk samples from 50 mothers in the MAMI cohort to investigate the influence of maternal secretor status on early-life resistome development. Longitudinal follow-up at 6 and 12 months, and also further validation in the independent Lifelines NEXT (LLNEXT) cohort, support our findings. Cesarean section (C-section) was associated with increased antibiotic resistance gene (ARG) diversity, whereas exclusive breastfeeding reduced ARG abundance and diversity. Maternal secretor status further modified resistome composition among exclusively breastfed infants. Human milk oligosaccharide profiling identified specific glycans underlying these associations, with 2'-fucosyllactose and 6'-sialyllactose showing negative correlations with distinct ARG classes. These findings identify human milk composition as a key determinant of early-life resistome assembly and a potential target for modulating antimicrobial resistance.

Humans↗
PubMed2026

Mitochondrial DNA diversity in Ecuadorian populations: Recurrence of variant 16136 within haplogroup B2.

The identification of lineage-defining variants, frequently found in the coding region of mitochondrial DNA (mtDNA), is essential for refining haplogroup classification. Most mtDNA studies in South American populations have focused on the control region (CR), which has provided important insights into population structure and maternal lineage origins, although information needed for more robust phylogenetic resolution has been neglected. This study investigates the maternal genetic structure of Ecuadorian populations by combining CR and whole mitogenome analyses. Sequences from the mtDNA CR were obtained from 461 individuals (253 Mestizos and 208 Native Americans), while complete mitogenomes were sequenced for 127 individuals to improve phylogenetic resolution by identifying lineage-defining variants present in coding region. Most mtDNA haplogroups in the two population groups analyzed were of Native American origin (A2, B2, B4, C1, D1, D4), with significant differences in the distribution of specific lineages between them. Among Mestizos, African haplogroups (all within the L branches) and Eurasian haplogroups (H, K, R, U) were detected at low frequencies, whereas no African lineages were observed among Native Americans. The results obtained highlighted a heterogeneity within Ecuadorian populations that must be considered when developing mtDNA haplotype databases for forensic purposes. Whole mitogenome sequences enabled the identification of variants that refined haplogroup classifications, provided a more accurate reconstruction of the maternal genetic diversity, and improve the discrimination between Native American and Asian maternal lineages within haplogroup B4b.

Humans↗
PubMed2026

Uncovering the mechanism of female restitution in sugarcane hybrids.

Variations of meiosis, which normally halve genetic complements prior to fertilization, can have profound consequences. For example, whole-genome duplications (polyploidy) have shaped the evolution and diversification of most angiosperm lineages. The century-long success of sugarcane interspecific hybrids has been attributed to unusual female restitution-an unreduced maternal gamete fusing with a normal haploid paternal gamete1,2. Here we generated haplotype-resolved genomes of octoploid Saccharum officinarum LA Purple and decaploid Saccharum spontaneum US56-14-4. Eight F1 hybrids between these species exhibited 2:1 maternal to paternal genomic ratios, with 2 assemblies revealing canonical haploid sets of approximately 40 paternal and approximately 80 maternal chromosomes. The maternal chromosomes comprise 40 pairs of duplicated, partially recombined sister chromatids that retain around 62.5% of maternal genetic diversity, characteristic of second division restitution. Using single-molecule long-read sequencing and a novel algorithm that is broadly applicable to polyploid genomes, we identified two classes of recombination breakpoints, including a previously unrecognized configuration supported by both recombinant and non-recombinant reads, across all hybrids and diagnostic of second division restitution. These findings resolve a century-old cytological debate, add new insights into meiotic variations, and offer a genomic approach to accelerate genetic gain in this globally critical sugar and bioenergy crop.

Chimera↗
PubMed2026

Paleogenomics and habitat modeling reveal temperate Eurasian origins of woolly rhinoceroses.

The woolly rhinoceros was a prominent Ice Age megafaunal species, and there is limited knowledge regarding its origin and responses to past glacial cycles. We sequenced 29 mitochondrial and 14 nuclear genomes from Pleistocene specimens across Eurasia and modeled the species' habitats over the past 500,000 years. Our results suggest that its maternal genetic diversity mainly evolved in temperate Eurasia around 460 thousand to 420 thousand years ago during a prolonged glacial-interglacial transition. We found that a ~170-thousand-year-old East Asian individual was ancestral to all later populations, indicating East Asia as one possible origin of Late Pleistocene ancestry. We also identified the Altai region as a major climatic refugium. These findings highlight the crucial role of temperate Eurasia in the evolution of woolly rhinoceroses and the diversification of cold-adapted megafauna.

Animals↗
PubMed1979

Perinatal viral carcinogenesis: the role of immunity.

The perinatal period cumulates conditions favorable to carcinogenesis that comprise high cellular multiplication rates, unstable homeostasis, and immune incompetence. The placenta allows the passage of various antigens including oncogenic viruses that have immunogenic or tolerogenic effects on the fetus. According to the structural type in different species, the placenta also transfers a diversity of maternal antibodies that protect efficiently the unborn progeny. However, in the postnatal period, the infant deprived of maternal antibodies and still incompetent to produce sufficient levels of immunoglobulins is highly susceptible to viral carcinogenesis. In an experimental system, newborn rats were totally protected against viral leukemogenesis by prenatal immunization of mothers with either live or inactivated leukemia virus. The routes of transfer and the comparative efficiency of serum and milk immunoglobulins of different classes to neutralize the virus were examined. The passage of antibodies under conditions of maternal immunosuppression was also studied.

Adolescent↗
PubMed2026

An analysis of Wolbachia incidence and genetics in non-ant Hymenoptera diversity.

Wolbachia bacteria are widespread maternally inherited symbionts of Nematoda and diverse Arthropoda hosts. Their evolutionary success is determined by the ability to affect the biology of the host in different ways, promoting the relative fitness of females harbouring Wolbachia, as well as sporadic cases of horizontal transmission of Wolbachia between different host species. Here, we revised Wolbachia infection in the Hymenoptera with respect to the symbiont occurrence in host taxa and Wolbachia genetics. The representatives of about half of the extant families and 1000 out of 140,000 non-ant hymenopteran species have been tested for Wolbachia infection. We concluded that Wolbachia are found in all major hymenopteran families. More than 75% of Wolbachia diversity belongs to the A supergroup, whereas other variants belong to the B supergroup and only two isolates belong to the supergroup F. One of the main results of this study is the discovery of a specific Wolbachia genetic pattern (based on multilocus sequence typing [MLST]) in Apoidea hosts. Two haplotypes, ST-479 and ST-wH14, along with their alleles within other sequence types (STs), form the core of symbiont diversity, comprising 81% of unique host-Wolbachia ST associations. These haplotypes have not been reported beyond the Apoidea superfamily or Hymenoptera order. The reasons and mechanisms underlying this pattern in Apoidea remain unknown. Another important result of our study concerns the use of the MLST protocol, which has been previously criticised. We analysed 51 Wolbachia genomes for the average nucleotide identity (ANI) and MLST data, and found that genome and MLST variation are highly correlated. Therefore, the MLST protocol for Wolbachia remains reliable for many research tasks.

Animals↗
PubMed2026

A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data.

OBJECTIVE: Non-invasive prenatal testing (NIPT) identifies fetal chromosomal abnormalities by sequencing cell-free fetal DNA (cffDNA). Recent studies suggest the prediction of viral sequences from NIPT data, but current methods lack cost-effectiveness for routine use. This study develops a straightforward workflow to investigate potential viral signatures in pregnant women using NIPT data from 888 Iranian participants. METHOD: Two bioinformatic workflows were compared for predicting viral reads: the traditional method involved mapping reads to the human genome, followed by mapping unmapped reads to viral references, and a direct mapping approach to viral genomes, as proposed in this research. RESULTS: While maintaining reproducibility comparable to the conventional method, the proposed workflow minimizes computational complexity and time usage for data processing. Ultimately, this analysis suggested viral DNA in 24.2% of samples, encompassing 29 distinct species, implying the diversity of the maternal virome. CONCLUSION: This study presents a computationally efficient workflow for the in silico prediction of viral-like sequences from routine NIPT data. Further experimental validation is essential to verify the presence, viability, or clinical relevance of these sequences.

Humans↗
PubMed2026

The Polish Konik Horse: A Multidisciplinary Review of Its Origin, Genetics, Ecology, Health, Behaviour and Reproductive Biology.

The Polish Konik horse (PKH) is one of Europe's best-known native conservation breeds. Traditionally associated with the extinct Eurasian tarpan and conservation grazing, the breed has recently become the subject of multidisciplinary research encompassing genetics, ecology, health, behaviour and reproduction. This narrative review summarises current knowledge on the biological characteristics and contemporary scientific significance of the PKH. Literature published between 2005 and 2026 was identified through searches of PubMed, Scopus, Web of Science and Google Scholar and narratively synthesised. Available evidence suggests that, despite severe historical bottlenecks, the PKH has retained considerable genetic diversity and its characteristic maternal and paternal founder-line structure. Recent molecular studies have revised traditional concepts of the breed's origin, while ecological research supports its important role in conservation grazing and wetland restoration. Behavioural and reproductive studies indicate stable temperament, high reproductive efficiency and adaptation to extensive management systems. However, current knowledge is derived predominantly from observational studies, with relatively few comparative investigations and limited genomic and longitudinal data. The PKH represents a valuable model for research on conservation genetics, environmental adaptation, animal welfare, reproductive biology and ecosystem management. Further interdisciplinary studies are needed to strengthen the evidence base for conservation and breeding strategies.

Polish Konik horse↗
PubMed2026

Metagenomic polymorphic toxin effector and immunity profiling predicts microbiome development and disease-related dysbiosis.

Bacteria use antagonistic interbacterial weapons, such as polymorphic toxin secretion systems (TSS), to compete for niches in the human gut microbiome. We hypothesized that TSS influence gut microbiome development and disease-related dysbiosis. We developed a bioinformatic marker gene approach (PolyProf) to quantify TSS including ~200 effector and immunity genes and applied it to ~15,000 publicly available human metagenomes. PolyProf alpha and beta diversity readily distinguished 12 different human disease states and enabled the construction of highly accurate linear regression classifier machine learning models. Elastic net machine learning models integrating bacterial taxonomy with PolyProf had strong predictive value for 12 disease states, outperforming models utilizing taxonomy alone. During microbiome development in the first year of life, PolyProf alpha diversity increases, and beta diversity becomes increasingly like the maternal microbiome, influenced by vertical transfer, delivery mode, and breastfeeding. PolyProf is related to strain sharing among adults through social interactions. In summary, TSS genes strongly correlate with microbiome development and interpersonal strain sharing, suggesting roles for interbacterial antagonism. Since PolyProf distinguishes diverse adult disease statuses, these dynamics may contribute to non-genetic inheritance.IMPORTANCEPrevious research has demonstrated that bacteria compete within the gut microbiome using toxin secretion systems (TSS). How TSS contribute to human microbiome development and the microbiome alterations observed in human diseases is not known. This study develops a new bioinformatic tool for profiling TSS-related genes in metagenomic data. Application of this approach to large-scale human fecal metagenomic data demonstrates the dynamic association of TSS during microbiome development, including the exchange of strains among social contacts. TSS gene abundance patterns are highly predictive of 12 disease states. This study advances the field by enabling TSS profiling in metagenomes and by identifying disease and microbiome development biomarkers that provide hypotheses for future mechanistic studies and may be useful for disease diagnosis.

Dysbiosis↗
PubMed1977

[Ethology of the family (natural models of family physiology)].

The Ethology of the Family allows in a first step to collect naturals models of family organisations. It results an extreme diversity where all family forms exist: maternal, paternal, biparental, solitary. However we can find in this notion of socialitary peogramme where a certain mode of social operation is inscribed in the genetic code.

Animals↗
PubMed2025

A single-cell transcriptomic atlas of the pigtail macaque placenta in late gestation.

The placenta is a complex organ with multiple immune and non-immune cell types that promote fetal tolerance and facilitate the transfer of nutrients and oxygen. The nonhuman primate (NHP) is a key experimental model for studying human pregnancy complications, in part due to similarities in placental structure, which makes it essential to understand how single-cell populations compare across the human and NHP maternal-fetal interface. We constructed a single-cell RNA-Seq (scRNA-Seq) atlas of the placenta from the pigtail macaque ( Macaca nemestrina ) in the third trimester, comprising three different tissues at the maternal-fetal interface: the chorionic villi (placental disc), chorioamniotic membranes, and the maternal decidua. Each tissue was separately dissociated into single cells and processed through the 10X Genomics and Seurat pipeline, followed by aggregation, unsupervised clustering, and cluster annotation. Next, we determined the maternal-fetal origins of cell populations and analyzed single-cell RNA trajectory, Gene Ontology enrichment, and cell-cell communication. Single-cell populations in the pigtail macaque were strikingly similar in their identity and frequency to those found in the human placenta, including cells from trophoblast, stromal cell, immune, and macrophage lineages. An advantage of our approach was the deep sequencing of three tissues at the maternal-fetal interface, which yielded a rich diversity of common and rare single-cell populations. The third-trimester pigtail macaque single-cell atlas enables the identification of cellular subclusters analogous to those in humans and provides a powerful resource for understanding experimental perturbations on the NHP placenta.

Journal Article↗
PubMed2026

Lactobacillus iners at the nexus of microbiota, immunity, and pregnancy.

Pregnancy induces a dynamic reconfiguration of the vaginal microbiome, typically marked by increased dominance of Lactobacillus species and reduced microbial diversity. Among these bacteria, Lactobacillus iners stands out for its unique genomic traits, controversial associations with vaginal health, and frequent presence across all stages of gestation. This review synthesizes current literature on the maternal microbiome with a focus on L. iners, exploring its strain-level diversity, metabolic idiosyncrasies, and inflammatory potential. We discuss how host factors such as ethnicity, sexual activity, maternal age, and especially obesity, influence microbial composition, and evaluate conflicting data surrounding L. iners in contexts like in vitro fertilization, preterm birth, and postpartum recovery. Emerging evidence suggests that L. iners may act as a transitional species, whose effect on pregnancy outcomes depends on its abundance, genetic features, and interactions with the host immune system. We also assess limitations of current animal models and propose future directions for understanding this enigmatic bacterium. Unraveling the role of L. iners will be essential to predicting, preventing, and managing adverse pregnancy outcomes in diverse populations.

Humans↗
PubMed1975

Quality of health care for the disadvantaged.

Literature review points out that: (a) differentials in health status between the disadvantaged and the nondisadvantaged persist, often to a large degree; (b) differentials in the overall amount of care received are less striking now than heretofore, but standardization by level of need demonstrates measurable discrepancies in health services provided to the disadvantaged compared with the nondisadvantaged; (c) the quality of health care for the disadvantaged is not strikingly poorer than care for the nondisadvantaged, but, in view of demonstrable shortcomings in the quality of health care in general, this is not viewed as a positive statement; and (d) attempts to improve quality of care for the disadvantaged have not had the hoped-for impact. Four new avenues are suggested for possible further research; increased patient responsibility, increased consumer knowledge, financial accountability, and quality assurance activities. Because of the likelihood of only marginal changes in health status, rigorous evaluation of any experimental program is emphasized. During the last decade, many attempts have been made by private and governmental bodies to improve the health of the American people. In general, these efforts have focused on improving the health of members of disadvantaged groups and have included such diverse activities as building OEO health centers, developing maternal and infant care programs, and financing care for the elderly. During the last few years, a different movement, concerned with assuring high quality care for all people, has produced efforts such as quality assurance activities in health maintenance organizations, the Professional Standards Review Organization program, and the medical care evaluation program of the Joint Commission on the Accreditation of Hospitals. Consideration of these two issues, i.e., improving the health of disadvantaged groups and improving the quality of care for all people, has led to two policy-relevant questions: "Can the health of disadvantaged groups be substantially improved by assuring that a high level quality of care is delivered to them?" and "Can the quality of care delivered to disadvantaged groups be improved?" The purpose of this paper is to review some available data pertinent to both these issues and to suggest some ideas for future research.

Adolescent↗
PubMed2026

Single-cell transcriptomics on FFPE placenta: A novel method for comprehensive exploration of an entire placental section.

INTRODUCTION: The placenta's complex cellular diversity challenges traditional transcriptomic analyses. Single-cell RNA sequencing (scRNA-seq) offers breakthrough capabilities by enabling transcriptome profiling at the single-cell level. However, traditional scRNA-seq relies on fresh or frozen samples, which present practical storage and quality challenges. Applying scRNA-seq to Formalin-Fixed, Paraffin-Embedded (FFPE) placentas could harness archived samples for clinical insights. METHODS: We used 10x Genomics Flex technology to analyze 8 non-pathological placentas ranging from 21 + 6 weeks of gestation (WoG) to 39 + 4 WoG. RESULTS: Our approach identifies diverse cell populations and allows us to discern maternal from fetal cells. Despite sample size limitations, the method yields comparable data to prior fresh/frozen tissue studies and we complete these data by integrating new molecular markers. The potential to correlate single-cell results with histopathology enables us to conduct an in-depth analysis across entire placental sections by concurrently addressing both fetal and maternal cells. We could thus confirm molecular markers like KRT5/6 using immunohistochemistry by revisiting the slide. DISCUSSION: This innovation could aid in understanding focal anomalies observed on standard histology slides, thereby enhancing traditional histopathological assessments. Given its practicality, integrating our method into routine practice is both feasible and promising.

Differentially expressed genes (DEG)↗
PubMed1977

The consequences of nullosomy for a chromosomal region affecting cyclic AMP phosphodiesterase activity in Drosophila.

A study of Drosophila nullosomic for chromomere 3D4 shows that this region of the genome is necessary for male fertility, normal female fertility and normal oogenesis. Males nullosomic for 3D4 lack normal, motile sperm. Females nullosomic for this region exert a maternal influence on their progeny which results in a diversity of imaginal defects. The observation that chromomere 3D4 is the most probable locus for a chromosomal region which affects cAMP phosphodiesterase activity, and which may contain a structural gene for the enzyme, prompts the hypothesis that the diverse physiological effects caused by nullosomy for 3D4 are the result of an aberrant cAMP metabolism.

3',5'-Cyclic-AMP Phosphodiesterases↗
PubMed2026

Maternal and Fetal HLA Heterozygosity in Preeclampsia: Insights From a Large Multi-Ancestry Pregnancy Cohort.

Preeclampsia (PE) is a leading cause of maternal and neonatal morbidity, with immune dysregulation at the maternal-fetal interface central to its pathogenesis. The highly polymorphic HLA region mediates maternal immune tolerance of the semi-allogeneic fetus, yet the contribution of HLA diversity to PE risk remains poorly defined. Whether the HLA heterozygote advantage observed in other immune disorders is relevant to PE has not been systematically evaluated. Using data from the multi-ancestry TOPMed Boston-Colombia Collaborative for Adverse Pregnancy Outcomes (n = 12,790; 4770 PE, 8020 controls; 10,808 maternal, 1982 fetal, including 1848 pairs), we evaluated associations between heterozygosity across eight classical HLA loci and PE and four sub-phenotypes, adjusting for genetic ancestry. HLA heterozygosity was common across most loci (> 80%). No individual maternal HLA locus was associated with overall PE; however, heterozygosity across Class I loci showed a protective effect in preterm PE (OR = 0.81, 95% CI: 0.68-0.97), with a similar pattern for HLA-A heterozygosity (OR = 0.78, 95% CI: 0.64-0.97). In contrast, fetal heterozygosity at HLA-DQB1 was nominally associated with increased risk of PE (OR = 1.36, 95% CI: 1.03-1.80) and preterm PE (OR = 1.73, 95% CI: 1.13-2.74). No individual maternal or fetal HLA alleles were associated with PE. Maternal-fetal mismatch analysis demonstrated locus-specific associations with preterm PE, including increased risk with HLA-DQA1 mismatch and reduced risk with HLA-C mismatch. These findings highlight distinct maternal and fetal immunogenetic contributions to PE risk and underscore the importance of considering HLA diversity-rather than individual alleles alone-in studies of PE aetiology.

Humans↗
PubMed2026

Delayed maturation of the milk microbiome in women with type 1 diabetes.

AIMS/HYPOTHESIS: The breastmilk microbiome plays a crucial role in gut microbial colonisation and immune development, but little is known about how it is influenced by type 1 diabetes. METHODS: We conducted a longitudinal 16S rRNA gene sequencing study of milk from women with type 1 diabetes (n=69 pregnancies; 174 samples) and women who did not have type 1 diabetes (n=49 pregnancies; 123 samples), collected at seven timepoints from birth to 15 months postpartum. Alpha diversity (richness, inverse Simpson evenness) was analysed by generalised linear mixed models, beta diversity was analysed by Bray-Curtis dissimilarities and PERMANOVA, and differential abundance was analysed by limma. Additionally, we examined associations with maternal genetic risk score (GRS), maternal HLA type, glycaemic management (HbA1c) and breastmilk secretory IgA (sIgA), and performed a parallel analysis for the infant stool microbiome. RESULTS: A significant interaction between type 1 diabetes status and timepoint was observed for alpha diversity, both richness (p=0.01) and inverse Simpson diversity (p=0.003), indicating distinct temporal trajectories between women with and without type 1 diabetes. In those without type 1 diabetes, richness increased significantly between birth and 1 week postpartum, but this early increase was delayed in women with type 1 diabetes to between 1 week and 3 months postpartum (p=0.002). Beta diversity analysis revealed earlier and more extensive compositional shifts in women without type 1 diabetes compared to those with type 1 diabetes. These differences persisted after adjusting for Caesarean delivery, BMI, parity and infant sex, and were not attributable to a delay in initiating breastfeeding. Taxa with delayed enrichment in women with type 1 diabetes included Streptococcus spp. and Rothia mucilaginosa, which metabolise human milk oligosaccharides to short-chain fatty acids to promote development of the infant's gut barrier and immune system. Maternal GRS, HLA, HbA1c or sIgA were not associated with milk microbiota diversity trajectories. In infant stool samples, alpha diversity did not differ between exposure groups, and showed no evidence of delayed maturation. Beta diversity revealed an early compositional shift between birth and 1 week postpartum only in infants born to women without type 1 diabetes. Similarly, significant taxonomic changes between birth and 1 week postpartum were detected only in infants born to women without type 1 diabetes, but with some taxa differing between exposure groups at 1 week. CONCLUSIONS/INTERPRETATION: Maternal type 1 diabetes is associated with delayed early maturation of the breastmilk microbiome. Early compositional differences in microbiota restructuring were also observed in the infant gut, partially mirroring the pattern in the milk microbiome; however, sustained differences in infant gut microbiota diversity were not detected. Further investigation could determine whether these changes affect development of the infant's gut and immune system.

Humans↗