Genetics and Molecular Biology最新文献

This systematic review investigates the cytogenotoxicity of various food preservatives in mammalian cells, including sodium benzoate and potassium sorbate, through a comprehensive analysis of studies retrieved from PubMed, SCOPUS, and Web of Science. An orderly search conducted in March 2025 identified 19 relevant studies (from an initial 594), which employed assays, such as the micronucleus test and the comet assay to assess DNA damage, and MTT assay and polychromatic/normochromatic erythrocytes (PCE/NCE) ratio for evaluating cytotoxicity. Among these, 13 studies (68 %) reported genotoxic effects, with sodium benzoate being the most frequently associated with micronucleus formation and chromosomal abnormalities. Additionally, 12 studies (63 %) described cytotoxic effects, evidenced by decreased cell viability, altered proliferation indices, or nuclear alterations. As for the quality assessment, 18 studies (out of 19) were categorized as strong (n = 15) or moderate (n = 3) and, therefore, we consider our findings to be trustworthy. In summary, the consistent association between exposure to food preservatives and cytogenotoxic outcomes highlights the importance of monitoring such compounds and establishing clearer safety thresholds to protect human health. Certainly, these findings are important for clarifying the role of biomarkers related to cytogenotoxicity due to food preservative consumption in humans.

X-STR analysis offers novel pathways for exploring both paternal and maternal lineages, which is particularly valuable in parenthood testing where standard methods fail. Despite being limited in availability, these markers show promise in improving forensic analyses, especially with emerging technology such as Massively Parallel Sequencing (MPS). This study introduces a new X-STRs multiplex system that could increase discrimination power in complex cases, expanding marker diversity and complementing traditional markers. We selected 12 X-STR loci (DXS61071, DXS97199, DXS12310, DXS14221, DXS33963, DXS39152, DXS44734, DXS54471, DXS68748, DXS70370, DXS13932, and DXS14986) for the assay. Genomic DNA was extracted from 100 unrelated males and 104 females, in a sample population from Rio de Janeiro, amplified with custom-designed primers and subjected to capillary gel electrophoresis and MPS. Forensic efficiency evaluation revealed high values of the combined power of discrimination in males (cPDM ≥ 0.999999997) and females (cPDF ≥ 0.999999999999995), as well as combined paternity exclusion (cPE ≥ 0.99999). Among these markers, two exhibit high polymorphism, with multiple isoalleles distinguishable by their sequences, using MPS technology. The incorporation of these new X-STR markers multiplex system in conjunction with MPS analysis could potentially increase the power of discrimination in forensic analysis for mixtures and complex cases.

Stingless bees like Melipona interrupta play vital ecological roles and rely on diverse microbial communities in their larval food. This study investigated the impact of fungal diversity on larval development and caste differentiation. Fungi isolated from brood cell food were identified morphologically and molecularly, with Fomitopsis sp. and Zygosaccharomyces sp. showing high prevalence. Artificial larval rearing was conducted using sterilized and non-sterilized food inoculated with these fungi. Zygosaccharomyces sp. significantly enhanced survival rates and queen production, achieving results comparable to natural conditions, while Fomitopsis sp. had a modest effect. Statistical analyses confirmed significant associations between fungal treatments and larval outcomes. These findings underscore the functional role of fungi in M. interrupta larval nutrition and offer potential applications in sustainable meliponiculture.

Satellite DNAs are abundant components of the genomes of many eukaryotic species. They are composed of long and rather homogeneous arrays of tandem repeats that are typically located at the heterochromatin. They may contribute to the structural organization and regulatory dynamics of the genome. However, they evolve rapidly between species and changes in their sequences and abundance may contribute to the process of speciation. Here we used Illumina genomic sequencing raw data and the TAREAN bioinformatic tool to identify and characterize the most abundant satDNAs present in two sister species from the buzzatii cluster (repleta group): D. gouveai and D. borborema. We found five satDNAs, two are reported in these species for the first time (CDSTR138 and CDSTR230), two have already been reported (pBuM and DBC-150) and one is described here for the first time (CDSTR8). These satDNAs differ in both quantitative and qualitative terms between the two species. Most notoriously, the pBuM satDNA was found in D. gouveai, but it is virtually absent in D. borborema, despite their relatively recent divergence (<0.5My). We mapped these satDNAs to the chromosomes and found that most of them are located near or at the centromeres, with overlapping distribution in several locations.

The oxytocinergic system plays a crucial role in regulating physiological and behavioral processes, making it a key component of neurobiology in both humans and animals. This study utilizes computational modeling to explore the interaction between G protein-coupled receptors (GPCRs) and the Homo sapiens neurohormone oxytocin (Leu8OT), as well as, for the first time, the Pro8OT variant found in Callithrix jacchus and other New World monkeys. Pro8OT has been previously recognized for its functional and evolutionary significance. We performed homology modeling of receptors (OTR, VTR1a, and VTR1b) in both human and marmoset species. Additionally, cholesterol's role in modulating receptor binding and stability was evaluated in our simulations. Our findings suggest a general pattern across primates, preserving the essential pleiotropic functions of the oxytocinergic system in regulating physiology and behavior, which align with the shared evolutionary framework of species within this order. However, some specific variations were observed, as Pro8OT exhibits distinct binding affinities and unique receptor interactions. Comparative analysis of human and marmoset OT-OTR complexes indicate a more stable and favorable binding environment in marmoset systems, suggesting species-specific adaptations. These results enhance our understanding of the oxytocinergic system, bridging computational models with evolutionary neurobiology and providing insights for future functional studies.

Bees are fundamental factors in ecology and agriculture due to their ecosystem services as pollinators, including many important crops. Because of its ecological significance and value to humans, the honey bee, Apis mellifera, was one of the earliest insect species targeted for genome sequencing, and over the last decades, many other species of social bees, including practically all species comprising the genus Apis and dozens of bumble bee species (Bombini) have complete genome assemblies deposited in public databases. The largest clade of the social bees, the stingless bees (Meliponini), is, however, strongly underrepresented. To date, only five genomes for species of three genera have been released for the New World stingless bees, which comprise over 400 species distributed in 32 genera. Different from the honey bee, these species are native to the Neotropics, being important pollinators of many native plants and cultivars, including greenhouse cultures. We present here the genome assemblies for two species of the genus Scaptotrigona, one of the largest genera among the stingless bees in Brazil. The new datasets are highly complete and, as shown in our phylogenomics analysis, these genomes provide robust support for the clades of the corbiculate bees and their evolutionary history.

Circulating neutrophils and ferroptosis are vital for the development of intracranial atherosclerotic stenosis (ICAS). This study aimed to explore that whether neutrophil ferroptosis participate in ICAS. Sixteen patients with ICAS and 14 healthy controls were enrolled. We collected peripheral blood and separated neutrophils. LncRNA, mRNA, and miRNA sequencing were performed. The differently expressed (DE) lncRNAs, mRNAs, and miRNAs were selected. The protein-protein interaction (PPI) network was constructed, top 30 hubgenes were selected, and intersected with DE ferroptosis genes to obtain the core genes. Combined with DE lncRNAs and miRNAs, the ceRNA network and TF-miRNA-mRNA network were constructed. Finally, the expression levels of the core genes were verified by Quantitative Reverse Transcription PCR (qRT-PCR) in other 11 patients and 9 healthy controls. The five core ferroptosis hubgenes were preliminarily identified, and ceRNA network and TF-miRNA-mRNA network were constructed. We identified several pairs of interactions. Finally, verification of qRT-PCR results revealed that CTSB (P=0.001) and HNRNPL (P=0.002) were upregulated, KRAS (P=0.003) and MAP1LC3A (P=0.004) were downregulated in ICAS group, compared with healthy controls. Our results identified four core genes (CTSB, HNRNPL, KRAS and MAP1LC3A) and constructed potential regulatory network, providing the potential therapeutic targets for ICAS.

Apurinic/apyrimidinic sites are one of the most frequent spontaneous lesions in DNA. Evolutionarily conserved AP endonucleases (ExoIII and EndoIV families) incise the DNA backbone 5' to the AP site and the cleaved AP sites are subsequently repaired by the base excision repair machinery. AP endonucleases additionally exhibit 3'-5' exonuclease activity. Novel AP endonucleases that are not member of AP endonuclease families keep being reported and exhibit 3'-5' exonuclease activity and other important DNA processing. Interestingly, human and mouse WRN helicases contain a 3'-5' exonuclease domain, but the precise functional roles of the exonuclease activity in vivo remain unclear. We searched for WRN-like exonuclease proteins in the Caenorhabditis elegans database and found a new gene, zk1098.3, which shows a high similarity to human EXD3. Here, we assigned zk1098.3 to exd3-1. We cloned exd3-1 from an ORF clone and purified the recombinant EXD3-1 protein. We found that EXD3-1 displays incision at AP sites and exonucleolytic digestion on the nicked AP site and that EXD3-1 is involved in recovery from replication stress-induced cell cycle arrest. This work suggests that EXD3-1 either plays a role in base excision repair, although the extent of this repair remains to be determined, or has a specialized DNA damage response function.

The literature shows a correlation between ethnicity and pathogenic variants of the thyroid stimulating hormone receptor (TSHR) gene. Some of these polymorphisms may be risk factors for the development of primary congenital hypothyroidism (PCH). In this study, we investigated the relationship between the frequency of TSHR gene polymorphisms and the genetic influence of African, Amerindian, and European ancestry-informative markers in patients from an Amazonian population in Brazil who were diagnosed with PCH. The study was conducted on samples from 106 patients who were diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSHR gene were automatically sequenced. Ancestry-informative marker identification was performed using a panel of 48 markers, and the results were compared with parental Amerindian, Western European, and Sub-Saharan African populations using Structure v2.3.4 software. Four nucleotide alterations were identified among 49 patients. The distribution of tested ancestry markers among the 106 patients indicated a significant difference in the percentages of Amerindian (25.90 %), European (41.80 %), and African (32.20 %) ancestry. Logistic regression analysis revealed no significant association between the rs2075179 and rs1991517 polymorphisms and genetic ancestry. This study revealed no evidence of a relationship between polymorphic TSHR gene variants and genetic ancestry markers in patients with PCH.

The identification of novel functional biomarkers is crucial in recognizing high-risk colorectal cancer (CRC) patients. Despite this need, no prognostic biomarker has been implemented in clinical practice for CRC. To address this gap, we utilized integrated transcriptomic data from public databases alongside our original multi-omics data, including proteome and chromatin accessibility datasets. Bioinformatics studies on transcriptomic datasets from 487 CRC patients led us to identify three Golgi apparatus prognostic genes: NIPAL1, ZYG11B, and PARP10. We found that decreased expression of NIPAL1 and ZYG11B, as well as increased expression of PARP10, elevated the risk of CRC. These genes are potentially involved in cellular processes such as nucleotide excision repair and DNA replication. Additionally, our original multi-omics datasets, encompassing proteomic data and chromatin accessibility profiling from assay for transposase-accessible chromatin with sequencing (ATAC-Seq), identified alterations in protein levels of potential upstream transcription factors CDX2 and YY1 for three genes. Furthermore, chromatin accessibility at DNA binding regions corresponding to transcription factors such as SPI1 and JUND changed, potentially explaining the observed variations in mRNA levels for these genes. Our findings highlight the biological activities of these genes, including NIPAL1, PARP10, and ZYG11B, and their upstream regulators, offering a functional context for future in-depth mechanistic studies.