Biochemical Genetics最新文献

The ornamental fish Poecilia velifera (Sail-fin molly, Poeciliidae) has spread widely to various non-native ecosystems around the world, far from its native habitat in the Yucatan Peninsula, Mexico. Despite the availability of some partial mitochondrial and nuclear genetic information, the complete mitogenomic structure and its variation remain unknown for this species, which is essential for a comprehensive genetic characterization and detailed phylogenetic investigation. This study applied next-generation sequencing to generate the de novo mitogenome of morphologically identified P. velifera from a non-native brackish water ecosystem in Banten Province, Indonesia. The resulting mitogenome was 16,627 bp in length and encompassed 13 protein-coding genes (PCGs), 22 transfer RNAs, two ribosomal RNAs, and a non-coding control region (CR). The result enhances our understanding of the genetic makeup of P. velifera compared to its congeners. Furthermore, the identified nucleotide variations within the conserved blocks of the CR region could provide insights into the functional role of this non-coding region. Bayesian phylogenetic inference using concatenated PCGs distinguished P. velifera from its congeners and showed monophyletic clustering of Poecilia in the family Poeciliidae, consistent with earlier evolutionary hypotheses. This first mitogenome of P. velifera paves the way for using multiple mitochondrial markers in species identification and understanding population structure in the near future. In addition, looking into the genetic evidence of this ornamental species in a non-native ecosystem, the study emphasizes the importance of strict quarantine regulations to protect Indonesia's native fish species.

Gangliosidosis is a hereditary metabolic disorder inherited in an autosomal recessive manner. This disorder is marked by the accumulation of gangliosides in the central nervous system, leading to considerable and progressive neurological deficits. In the current study, we described the clinical findings and genetic variations observed in 12 patients manifesting symptoms of gangliosidosis disorders. The results of molecular investigations revealed the presence of different variants in the HEXA (three cases), HEXB (four cases) and GLB1 genes (five cases) in the patients. Notably, the c.833C > T (p.A278V) variant in the HEXB was detected in two unrelated cases. Four novel variants were also detected, including two likely pathogenic variants in the HEXB gene, namely c.1083-2del and c.1616_1622dup (p.Ile541Metfs*14). A single case had three variants in the GLB1 gene, including two novel variants (c.545C > T and c.631G > C); and a previously reported pathogenic variant (c.601C > T). The current study broadens the spectrum of genetic variations in Iranian patients with different types of gangliosidosis. This information is also important for the process of genetic counseling in the affected families.

In the past decade, the treatment of thyroid cancer (TC) has been brought to a new era, but tumor metastasis still is an intractable difficulty in clinical. LncRNA ABHD11-AS1 has been confirmed to be involved in TC progression. However, its specific mechanism remains unknown. Tissues from TC patients and TC cells served as mainly experimental subjects in this study. The migration of TC cells was assessed using the scratch assay, and the ability of cell invasion was evaluated by transwell assay. RT-qPCR and western blot were conducted to determine the levels of related genes and proteins. The dual-luciferase reporter assay was used to validate the relationships among ABHD11-AS1, miR-876-5p and CALM2. ABHD11-AS1 and CALM2 are elevated in TC cancer samples and cells, while the expression of miR-876-5p is reduced. Subsequently, the ability of TC cells to migrate, invade and EMT was inhibited by both ABHD11-AS1 knockdown or miR-876-5p overexpression. Moreover, the suppression of malignant characteristics in TC cells resulting from ABHD11-AS knockdown was counteracted by the inhibition of miR-876-5p or the upregulation of CALM2. On the mechanism, ABHD11-AS1 elevated CALM2 and promoted the malignant development of TC cells by acting as a miR-876-5p sponge. ABHD11-AS1 mediated the miR-876-5p/CALM2 axis to drive the metastasis of thyroid cancer.

In recent years, the BTB (Bric-a-brac/Tramtrack/Broad complex) gene family in plants has garnered widespread attention for its regulatory roles in plant growth and development. However, knowledge regarding BTBs in poplar trees remains limited. Here, we identified 94 BTB gene family members across the genome of Populus alba L. Through phylogenetic analysis, these members were classified into seven subfamilies and 16 branches, followed by comprehensive bioinformatics and biological analyses. Structural analysis revealed that poplar BTB gene family exhibits both high conservation and diversity, with distinct gene structures and protein features. Expression pattern analysis demonstrated differential expression of poplar BTB genes across various tissues, hormone treatments, and under drought stress, suggesting their potential roles in poplar growth and development and drought response. This study provides a vital foundation and reference for unraveling the BTB-involved regulatory mechanisms underlying poplar growth and development and drought response.

Sepsis, a life-threatening condition characterized by a systemic inflammatory response, leads to organ dysfunction and high mortality rates. Honeysuckle, a traditional herbal remedy, has shown promise in attenuating organ damage and inhibiting pro-inflammatory factors in sepsis. However, the underlying molecular mechanisms remain unclear. We employed a multi-omics approach to elucidate honeysuckle's potential therapeutic effects in sepsis. RNA sequencing was performed on blood samples from 22 sepsis patients and 10 healthy controls to identify differentially expressed genes. Network pharmacology was utilized to predict effective ingredients and therapeutic targets of honeysuckle in sepsis. Meta-analysis compared gene expression between sepsis survivors and non-survivors. Single-cell RNA sequencing was employed to localize target gene expression at the cellular level. We identified 1328 differentially expressed genes in sepsis, with 221 upregulated and 1107 downregulated. Network analysis revealed 15 genes linked to 12 honeysuckle components. Four genes-DPP4, CD40LG, BCL2, and TP53-emerged as core therapeutic targets, showing decreased expression in non-survivors but upregulation in survivors. Single-cell analysis demonstrated that these genes were primarily expressed in T cells and other immune cells, suggesting their role in regulating immune response and inflammation. This study uses single-cell RNA sequencing and network analysis to identify DPP4, CD40LG, BCL2, and TP53 as key regulatory targets in sepsis, providing insights into disease mechanisms and potential therapeutic interventions. Network pharmacology analysis suggests possible interactions with honeysuckle compounds, though experimental validation is needed.

Amelogenesis Imperfecta (AI) is a set of hereditary diseases affecting enamel development, leading to various types of enamel defects, potentially impacting oral health unassociated with other generalized defects. AI manifests in syndromic and non-syndromic forms and can be inherited through autosomal recessive, autosomal dominant, or X-linked inheritance patterns. Genetic studies have identified sequence variants in a number of genes (≥ 70) linked to both syndromic and non-syndromic AI, highlighting the genetic diversity underlying the condition. The current study involved clinical evaluation and exome sequencing, aimed at identifying the causative variants in four unrelated consanguineous Pakistani families presenting AI phenotypes. The exome sequencing results revealed a novel homozygous frameshift variant FAM20A: NM_017565.4, c.188dupA; p.(Asp63Glufs*17) in families A, B, and C while a nonsense homozygous variant WDR72: NM_182758.4, c.2686C > T; p. (Arg896*) in family D. The segregation of both variants was confirmed by Sanger sequencing. Bioinformatics analysis predicted the pathogenicity of these genetic variants. These alterations suggest functional consequences, potentially impairing the FAM20A and WDR72 proteins and causing dental anomalies. This investigation significantly broadens our understanding of FAM20A and WDR72's involvement in AI. Furthermore, this study highlights the genetic heterogeneity of AI (involving FAM20A and WDR72 in this study) within the Pakistani population.

COVID-19, caused by SARS-CoV-2 infection, frequently induces thrombotic complications in affected individuals. P-selectin, a pivotal platelet marker, plays a central role in platelet-leukocyte aggregation, contributing to hemostasis and thrombosis. Additionally, D-dimer serves as an indicator of coagulation system activity, while miR-17-5p exhibits antiviral properties in respiratory infections. This study aimed to evaluate and compare the expression levels of D-dimer, P-selectin, and miR-17-5p in COVID-19 patients hospitalized in intensive care units (ICUs) and those in non-ICU wards. This cross-sectional study included 50 COVID-19 patients, divided into ICU and non-ICU groups. P-selectin expression was assessed using Flow cytometry, D-dimer levels were measured via chemiluminescence, and miR-17-5p expression was analyzed using quantitative real-time polymerase chain reaction (qRT-PCR). Our analysis revealed no significant difference in P-selectin expression levels between ICU and non-ICU patients (p = 0.1068). However, the expression levels of D-dimer and miR-17-5p were significantly elevated in ICU patients compared to non-ICU patients, with corresponding p-values of 0.032 and 0.0176, respectively. The heightened expression of D-dimer and miR-17-5p in ICU patients suggests their potential utility as predictive biomarkers for assessing the hemostatic status of COVID-19 patients.