遗传最新文献

Apomixis is a form of asexual reproduction in plants where embryos and clone seeds are formed directly without meiosis and fertilization. The progenies generated through apomixis are genetically identical to the maternal plants, and the genotypes does not change across generations, and the phenotypes do not undergo segregation. Successful introduction of apomixis into major crops and permanent, can achieve the permanent fixation of crop heterosis, will resulting in significant economic benefits. Parthenogenesis constitutes a pivotal component in artificial apomixis, facilitating the transition from sexual reproduction to unisexual reproduction. In this review, we summarize the recent studies on plant parthenogenesis genes, and provide an overview of the application in haploid breeding and apomixis system. This contributes to a deeper and comprehensive understanding of parthenogenesis, offering important references for its application in apomixis.

Muscle fibers are the fundamental units of skeletal muscle. Based on contraction speed and metabolic properties, muscle fibers are categorized into fast-twitch and slow-twitch fibers. Further subdivision based on MyHC gene isoforms identifies them as type I, IIA, IIB, and IIX fibers. There is potential for interconversion among these muscle fiber types. The proportions of different muscle fibers determine muscle functional properties and affect muscle quality. Compared with muscles mainly harboring fast-twitch fibers, muscles predominantly composed of slow-twitch fibers are characterized by enhanced water-holding capacity, tenderness, and superior flavor. During the formation and transformation of animal skeletal muscle fibers, the expression of a series of muscle-specific genes is precisely regulated by cis-regulatory elements. These cis-regulatory elements achieve precise regulation of the target genes through interactions with transcription factors and other regulatory proteins, thereby ensuring the formation and transformation of muscle fibers. Based on introducing the types and characteristics of muscle fibers, we summarize and prospect the role of the transcription factors and cis-regulatory elements in the formation and transformation of fast-twitch and slow-twitch muscle fibers in livestock. The aim of this review is to deepen the understanding of the relationship between gene expression regulation and muscle fiber diversity, and to provide theoretical support for the improvement of meat quality in livestock.

PANoptosis, a novel form of pro-inflammatory programmed cell death, plays a role in the progression of various cancers. However, its mechanisms in hepatocellular carcinoma (HCC) remain unclear. Recent studies have highlighted the critical role of long non-coding RNAs (lncRNAs) in the development and progression of multiple cancers. In this study, we retrieve HCC datasets from the TCGA and GEO databases. We identify PANoptosis-related lncRNAs through correlation analysis based on HCC datasets and previous research. Consistent clustering analysis reveals two distinct subtypes of HCC patients: Cluster 1 and Cluster 2. Compared with the Cluster 2 subtype, Cluster 1 shows a better prognosis and higher levels of immune infiltration. We then perform a Lasso-Cox regression analysis of PANoptosis-related lncRNAs to construct a risk assessment model for predicting the prognosis of HCC patients. Kaplan-Meier analysis indicates that patients in the low-risk group have higher survival rates, while ROC (receiver operating characteristic curve) and calibration curves demonstrate the model's good predictive performance. These findings provide deeper insights into the critical role of PANoptosis-related lncRNAs in developing HCC, offering potential biomarkers and therapeutic targets for future HCC treatment.

N⁶-methyladenosine (m⁶A), one of the most prevalent mRNA modifications, plays crucial roles during animal and plant development and in various physiological and pathological processes. Previous studies have characterized m⁶A methyltransferase complexes, demethylases, and m⁶A-binding proteins, but as a relatively new epitranscriptomic pathway, it is likely that new m⁶A components remain to be discovered. To explore the effects of m⁶A modification on tissues and organs, the m⁶A reader Ythdc1 was overexpressed in Drosophila melanogaster eye imaginal discs. Our results showed that overexpression of Ythdc1 leads to ectopic expression of Sxl in males, the rough eye in both males and females, and the activation of JNK signaling and apoptotic pathway. In order to screen m⁶A modifiers using the rough eye phenotype, a stable Drosophila strain overexpressing Ythdc1 was further constructed. By screening of more than 1,500 RNAi lines, several repressors and enhancers that may be involved in m⁶A modification were successfully identified. These genes are less studied in m⁶A pathway, and therefore we further verified them and conducted preliminary mechanistic analyses on them. In summary, this study identified multiple potential factors of the m⁶A modification pathway, expanded our understanding of the m⁶A modification network, and provided ideas and directions for exploring new regulatory mechanisms of this important pathway.

Genetics, as a core discipline of life sciences, has broad applications in medicine, agriculture, and environmental protection. With the rapid development in biotechnology, genetic education is facing new challenges and demands. Traditional teaching models have gradually revealed limitations in cultivating students' innovative abilities, practical skills, and comprehensive qualities. To enhance the quality and effectiveness of genetic education, promoting educational reform has become a focal point for educators and researchers. This study employs bibliometric methods to comprehensively review and analyze 690 relevant publications on genetic education reform from 1986 to 2023, encompassing both domestic and international contexts. The analysis covers multiple dimensions, including the time distribution of publications, research topics, major research institutions and authors, and keyword co-occurrence. Results indicate a steady annual growth in research on genetic education reform. Keyword analysis reveals prominent themes such as "educational reform", "experimental education" and "medical genetics", focusing on innovative teaching methods and improving educational outcomes. High-output institutions are primarily found in the fields of agriculture and life sciences, particularly within agricultural universities and the life sciences of comprehensive universities. Here, we summarize the current state and development trends in genetic education reform, providing a scientific basis and reference for future research. This study will promote the innovative development of genetic education and cultivate more high-quality talents with innovative spirit and practical abilities.

Mosaic loss of Y Chromosome (mLOY) refers to genetic mosaicism in males where some somatic cells have lost the Y chromosome (ChrY) while other cells remain their ChrY. mLOY is primarily found in the blood, not only because blood cells are easily accessible, but also because hematopoietic stem cells with LOY mutation gain competitive advantages, therefore producing a large number of LOY-positive blood cells via clonal hematopoiesis. Due to the specific structures, human ChrY is prone to be missegregated during mitosis, and driving by the germline variants, environmental insults and aging microenvironments, mLOY becomes the most commonly acquired age-related mutation in male genomes. Population-based cohort studies have shown that men with a certain degree of mLOY is associated with significantly reduced life expectancy and increased risks of cancer, Alzheimer's disease, cardiovascular diseases and among others. Recent studies using mouse models have further demonstrated that mLOY is a driving factor of leukemia and cardiovascular diseases. These findings suggest that mLOY not only provides a common genetic explanation for the occurrence of many chronic diseases in men, but also provides a new kernel for studying sex differences in human lifespan and disease risk. Here, we briefly summarize the findings from the population-based cohort studies on clonal hematopoiesis driven by LOY. Subsequently we sort out the risk factors of mLOY, methods for detecting mLOY and developing mLOY mouse models, and the potential mechanisms of mLOY in promoting a myriad of chronic diseases. Finally, we provide our own forward-looking perspectives for the future challenges and opportunities in mLOY. The findings from this review provide references for studying the biological role of Y chromosome and sex difference of chronic diseases.

In order to investigate the cues, which cause abnormal fermentation during the traditional Zhejiang rosy rice vinegar production, here, the Illumina Novaseq sequencing platform is adopted to decipher the abnormal phage community organization, structure, and related function annotation. The results show that the dominant viral families from the abnormal and the normal fermentation vinegar mash are inconsistency on known taxonomic identification information. Population network analysis and PCA (principal component analysis) indicate that the composition and structure of phage communities differ significantly between abnormal and normal fermentation vinegar mash. Only 3.29% VCs (viral clusters) simultaneously contain vOTUs (viral operational taxonomic units) from both fermentation situation. The abnormal phageome displays high network heterogeneity and dominant phage species at the genus level. Accompanied by the widespread distribution of phage-derived hydrolases that target bacterial cell wall, the lower proportion of lysogenic phages contributes to the phages of abnormal fermentation vinegar mash more inclined to lyse the hosts. Furthermore, the predicted bacterial host community coupling with the aberrant phage community is quite different from that in the normal vinegar fermentation. In conclusion, the abnormal structure and function of the phage community constitutes one of the primary reasons for the failure of traditional rosy vinegar fermentation. Phageome research has opened up a new approach for analyzing the causes of abnormal fermentation in traditional fermented foods as well as for regulating and transforming microbial communities.

In the continuous progression of genomic research, an increasing number of investigations have revealed that structural variations (SVs) hold a vital role in human evolution and the pathogenesis of diseases. Consequently, SVs have attracted extensive attention within the realm of clinical research.In recent years, optical genome mapping (OGM), which represents a high-resolution, ultra-long-read, automated, non-sequencing genomic detection technique, has exhibited remarkable advantages in the exploration of structural variations. When compared with karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and high-throughput sequencing technologies, OGM is capable of detecting structural and numerical aberrations throughout the entire genome in a single assay. These encompass aneuploidy, insertions, deletions, duplications, inversions, balanced translocations, and complex structural variations. With a detection resolution reaching as high as 500 bp, OGM is alternatively designated as the next-generation cytogenetic technology due to its high-resolution and long-fragment analysis capabilities. This endows it with substantial practical value in the detection of genomic structural variations. In this review, we comprehensively summarize the application of OGM methods in the detection of disease-related SVs, with the intention of providing valuable references and profound insights for SVs research, especially in the domain of disease diagnosis.

Genome sequencing (GS) refers to a technology that comprehensively and systematically detects the DNA sequences of an individual's nuclear and mitochondrial genomes. It aims to identify genetic variants and investigate their roles in human health and disease progression. As an emerging diagnostic tool, GS offers significant support for clinical diagnosis due to its high throughput, accuracy, and comprehensiveness. However, the complexity of data analysis and interpretation requires substantial professional expertise and experience, posing considerable challenges. When applying GS technology for molecular diagnosis of genetic diseases, ethical and technical issues related to clinical application arise, including informed consent, diagnostic data interpretation, and defining the scope and content of clinical reports. This expert consensus outlines the core workflow of clinical genome sequencing (cGS), clarifies its testing scope and technical limitations, and provides key steps for data quality control, analysis, annotation, and variant interpretation. It also addresses controversial issues related to report content and informed consent. This consensus aims to assist professionals in accurately understanding and appropriately utilizing clinical genome sequencing, thereby improving diagnostic accuracy for genetic diseases, enhancing the clinical utility of the technology, and advancing medical scientific research.

De novo mutations (DNMs) are significant genetic factors contributing to sporadic hearing loss (HL) and complex HL syndromes. To analyze the genetic counseling characteristics and interpretation of pathogenic DNMs for sporadic HL, we retrospectively analyze the clinical information of probands and their parents from 410 sporadic HL core pedigrees enrolled in the "Chinese Deafness Genome Project (CDGP)" between October 2015 and October 2023. We apply family trio-based genome sequencing (targeted gene capture and high throughput sequencing, mitochondrial genome sequencing, and copy number variants analysis) and validate the samples of their unaffected-parents. Homologous allele sequencing is used to identity by descent (IBD) in the DNM family trios. The results reveal that 7.3% (30 cases) of the probands in these sporadic hearing loss core pedigrees carry 17 types of autosomal dominant gene de novo single nucleotide variants (SNVs), insertions/deletions (Indels), and one type of de novo copy number variation, encompassing all types of DNM. Among them, WFS1 c.2051C>T, ATP1A3 c.2452G>A, and ACTG1 c.94C>T are common DNM in sporadic HL. The genotype C>T transversion exhibit a high number (34.6%). Clinical feature analyses also show that 56.7% (17/30) of the probands have non-syndromic HL, but more than half of them (52.9%, 9/17) carry pathogenic genotypes clearly associated with "syndromic HL", possibly exhibiting temporary "mimic" non-syndromic HL phenotypic characteristics. The average parental ages at childbirth for the 30 probands are 29.4 years for fathers and 28.3 years for mothers, with 13.3% of fathers or mothers aged ≥35 years. Additionally, among the family structure of the proband of genetic counseling, 63.3% are single-child families with a clear desire for another child, and 16.7% of the probands' parents seek prenatal genetic counseling for conceiving a "second child". During genetic counseling, it is essential to test the "family proband-parents' trios" core pedigree as a unit to analyze the genetic contribution of DNMs to HL. Furthermore, there is a certain correlation between the occurrence of DNMs and increasing parental age at childbirth. Therefore, for families with a history of DNM-associated sporadic HL, it is necessary to collect clinical information such as the parental age at childbirth and obstetric history of hearing-healthy parents. For these families planning another child, it is recommended to undergo prenatal diagnosis for the identified DNM pathogenic variations after conception and pay attention to the pregnancy outcome.