遗传最新文献

{"title":"Screening of <i>Drosophila melanogaster</i> RNA m⁶A modification pathway factors.","authors":"Shu-Yang Gao, Hou-Guang Lu, Yan-Hua Wang, Dong Yan","doi":"10.16288/j.yczz.24-341","DOIUrl":"https://doi.org/10.16288/j.yczz.24-341","url":null,"abstract":"<p><p><i>N</i>⁶-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 <i>Ythdc1</i> was overexpressed in <i>Drosophila melanogaster</i> eye imaginal discs. Our results showed that overexpression of <i>Ythdc1</i> 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 <i>Drosophila</i> strain overexpressing <i>Ythdc1</i> 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.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 4","pages":"476-488"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the research hotspots and trends in genetic education reform.","authors":"Yan Guo, Da-Jin Zhang, Dong-Li Zhu, Shan-Shan Dong, Tie-Lin Yang","doi":"10.16288/j.yczz.24-292","DOIUrl":"https://doi.org/10.16288/j.yczz.24-292","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 4","pages":"399-408"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hematopoietic mosaic loss of Y chromosome: from population cohorts to pathogenic mechanisms.","authors":"Li-Na Zhu, Xu Wang, Xi-Han Guo","doi":"10.16288/j.yczz.24-211","DOIUrl":"https://doi.org/10.16288/j.yczz.24-211","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 4","pages":"409-427"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of structure and function of phage community occurring in the abnormal fermentation of vinegar mash through virome sequencing.","authors":"Jia-Wen Ma, Xin-le Liang","doi":"10.16288/j.yczz.24-226","DOIUrl":"https://doi.org/10.16288/j.yczz.24-226","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 4","pages":"489-498"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application and research of genomic optical mapping technology in disease diagnosis.","authors":"Jing Quan, Yan-Qun Xiao, Da-Ru Lu, Yun Bao","doi":"10.16288/j.yczz.24-192","DOIUrl":"https://doi.org/10.16288/j.yczz.24-192","url":null,"abstract":"<p><p>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 <i>in situ</i> 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.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 4","pages":"428-436"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expert consensus on clinical genome sequencing interpretation and reporting.","authors":"Yulan Lu, Guozhuang Li, Yaqiong Wang, Kexin Xu, Xinran Dong, Jihao Cai, Bingbing Wu, Huijun Wang, Ping Fang, Jian Wang, Hua Wang, Luming Sun, Yongyu Ye, Qing Li, Yaping Liu, Li Liu, Ning Liu, Jiaqi Liu, Fang Song, Lin Yang, Zhengqing Qiu, Zefu Chen, Huaxia Luo, Dan Guo, Chanjuan Hao, Sen Zhao, Shangzhi Huang, Jing Peng, Xiaoqiang Cai, Ruifang Sui, Linkang Li, Nan Wu, Wenhao Zhou, Shuyang Zhang","doi":"10.16288/j.yczz.24-296","DOIUrl":"10.16288/j.yczz.24-296","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"314-328"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Wheat wide hybridization and chromosome engineering breeding in China.","authors":"Qi Zheng, Li Zhao, Bin Li, Hongwei Li, Wanquan Ji, Xueyong Zhang","doi":"10.16288/j.yczz.24-334","DOIUrl":"10.16288/j.yczz.24-334","url":null,"abstract":"<p><p>As the second important staple crop next to rice in China, common wheat (<i>Triticum aestivum</i>) plays a decisive role in national food security. Wild and semi-wild relatives of wheat provide abundant genetic resources for wheat genetic improvement. In China, wheat wide hybridization and chromosome engineering breeding initiated in the 1950s and developed into a well-defined theoretical and technical system over the next three decades through learning, exploration and practice. Subsequently, the technological innovation in alien chromatin identification and the isolation and analysis of alien resistance genes sponsored by continuous national projects have significantly enhanced China's impact on the world in this field. Eminent scientists such as Professor Li Zhensheng, who was awarded the Medal of the Republic before the National Day in 2024, have made outstanding contributions to the establishment and development of the research in this area in China. This article reviews the history of wheat wide hybridization and chromosome engineering breeding in China, aiming to honor the senior scientists and inspire future researchers to work hard in germplasm innovation and alien gene transfer, cloning and utilization in breeding.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"289-299"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interpretation of <i>de novo</i> mutations (DNM) and genetic counseling for sporadic hearing loss based on family trio-based sequencing.","authors":"Jing Guan, XiaonanWu, Jin Li, Guohui Chen, Hongyang Wang, Qiuju Wang","doi":"10.16288/j.yczz.24-228","DOIUrl":"10.16288/j.yczz.24-228","url":null,"abstract":"<p><p><i>De novo</i> 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 <i>de novo</i> single nucleotide variants (SNVs), insertions/deletions (Indels), and one type of <i>de novo</i> copy number variation, encompassing all types of DNM. Among them, <i>WFS1</i> c.2051C>T, <i>ATP1A3</i> c.2452G>A, and <i>ACTG1</i> 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.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"329-341"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular mechanism of Mfn2 alleviating endoplasmic reticulum stress and inhibiting apoptosis of sheep follicular granulosa cells.","authors":"Gulimire Abudureyimu, Ying Chen, Shuhong Tang, Hong Dong, Liqin Wang, Yangsheng Wu, Juncheng Huang, Jiapeng Lin","doi":"10.16288/j.yczz.24-247","DOIUrl":"10.16288/j.yczz.24-247","url":null,"abstract":"<p><p>Follicle development is a crucial step in mammalian reproductive processes, the specific role of Mfn2 in regulating mitochondrial function and endoplasmic reticulum stress in this process is still unclear, this study aimed to investigate the role of Mfn2 in the follicular development of adult sheep. Large, medium, and small follicles were collected, and granulosa cells (GCs) were isolated from large follicles. The expression levels of Mfn2 in different follicles were detected using qRT-PCR and Western blot, and the localization of Mfn2 in follicles was determined through immunofluorescence. Additionally, the expression levels of the mitochondrial autophagy-related protein Pink1, endoplasmic reticulum stress proteins (Grp78, Perk, Chop), and apoptosis-related proteins (Bcl2 and BAX) were detected. Furthermore, siRNAs were transfected into GCs to knock down Mfn2 expression, and changes in intracellular Ca²⁺ accumulation and mitochondrial membrane potential were evaluated, along with the expression levels of the aforementioned proteins. The results showed that Mfn2 expression was significantly higher in large follicles compared to small follicles and was primarily localized in GCs. Compared to small follicles, the expression levels of Pink1, Grp78, Perk, Chop, and BAX were significantly lower in large follicles, while Bcl2 expression was significantly increased (<i>P</i><0.01). After Mfn2 knockdown, intracellular Ca²⁺ levels and mitochondrial membrane potential were significantly reduced, while the expression levels of Pink1, Grp78, Perk, Chop, and BAX were significantly increased, and Bcl2 expression was significantly decreased (<i>P</i><0.01). Mfn2 may influence cell apoptosis during sheep follicular development by regulating mitochondrial function and endoplasmic reticulum stress.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"342-350"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thinking and practices of new methods for breeding wheat with improved nutrient use efficiency.","authors":"Yiping Tong, Wan Teng, Hongqing Ling, Aimin Zhang","doi":"10.16288/j.yczz.25-006","DOIUrl":"10.16288/j.yczz.25-006","url":null,"abstract":"<p><p>In the early 1990s, based on China's basic national conditions, Li Zhensheng put forward the concept of sustainable agricultural development that took the path of resource-conserving and high-yield agriculture. He carried out breeding explorations on the efficient use of mineral nutrients by crops and pioneered a new direction for wheat breeding with the goals of \"less input, more output, environmental protection, and sustainable development\", mainly focusing on improving the absorption and utilization efficiency of phosphorus and nitrogen. He has led and greatly promoted \"the Second Green Revolution\" in China's agriculture. In September 2024, Academician Li Zhensheng was awarded the \"Medal of the Republic\". This review summarizes Academician Li Zhensheng's strategic considerations in advocating the new direction of breeding and how he arranged to conduct research on the physiological and genetic basis of phosphorus efficient use in wheat. By doing so, we pay tribute to the outstanding work done by Academician Li Zhensheng in the research field of nutrient-efficient use by crops, and it is expected to further demonstrate Li Zhensheng's academic approaches and spirit so as to provide references for those who come after him.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"300-307"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}