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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

World Journal of Pediatrics 2024年第1期20卷 82-91页

作者： Han Zhang Kai Gao Shuang Wang Yue-Hua Zhang Zhi-Xian Yang Ye Wu Yu-Wu Jiang Department of Pediatrics Peking University First Hospital.No.1 Xi'an Men StreetWest DistrictBeijing 100034China Bejing Key Laboratory of Molecular diagnosis and Study on Pediatric genetic Diseases BeijingChina Children Epilepsy center Peking University First HospitalBeijingChina Key Laboratory for Neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijingChina center of Epilepsy Beijing Institute for Brain DisordersBeijingChina

Background The PACS gene family has been demonstrated to be related to intracellular vesicular *** phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial *** We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation *** information obtained from these patients was analyzed along with that obtained from previously reported *** With the inclusion of the newly diagnosed cases in this study,103 cases with PACS gene family-related neurological diseases were reported,of which 43 were PACS2-related cases and the remaining were PACSI-related *** patients had seizures,which have been reported to be effectively controlled by several types of anti-seizure medications(ASMs).The most efficacious and frequently prescribed ASMs included sodium valproate(43.3%,13/30),oxcarbazepine/carbamazepine(26.7%,8/30),and levetiracetam(20%,6/30).Almost all patients had intellectual disability/developmental *** most common pathogenic missense variants were PACSI ***203Trp and PACS2 *** addition,we report a patient carrying a likely pathogenic copy number variation(CNV)(de novo heterozygous deletion of chr14:105821380-106107443,286 kilobase,destroyed part of the furin-binding region domain and the protein structure after it)with more severe and refractory late-onset *** The clinical phenotypes of the different PACS heterozygous missense variants were *** pathogenic variant sites of PACSI and PACS2 were quite limited but located in different regions.A CNV destroying part of the PACS2 gene might also be *** findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family.

关键词： Developmental delay Epilepsy Intellectual disability PACSI PACS2

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The genetic basis and process of inbreeding depression in an elite hybrid rice

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Science China(Life Sciences) 2024年第8期67卷 1727-1738页

作者： Xiaodong Xu Yawen Xu Jian Che Xu Han Zhengji Wang Xianmeng Wang Qinghua Zhang Xu Li Qinglu Zhang Jinghua Xiao Xianghua Li Qifa Zhang Yidan Ouyang National Key Laboratory of Crop genetic Improvement and National Centre of Plant Gene Research(Wuhan) Hubei Hongshan LaboratoryHuazhong Agricultural UniversityWuhan 430070China

Inbreeding depression refers to the reduced performance arising from increased homozygosity,a phenomenon that is the reverse of heterosis and exists among plants and *** a natural self-pollinated crop with strong heterosis,the mechanism of inbreeding depression in rice is largely *** understand the genetic basis of inbreeding depression,we constructed a successive inbreeding population from the F_(2)to F_(4)generation and observed inbreeding depression of all heterotic traits in the progeny along with the decay of heterozygosity in each *** expected depression effect was largely explained by 13 QTLs showing dominant effects for spikelets per panicle,11 for primary branches,and 12 for secondary branches,and these loci constitute the main correlation between heterosis and inbreeding ***,the genetic basis of inbreeding depression is also distinct from that of heterosis,such that a biased transmission ratio of alleles for QTLs with either dominant or additive effects in four segregation distortion regions would result in minor effects in expected ***,two-locus interactions may change the extent and direction of the depression effects of the target loci,and overall interactions would promote inbreeding depression among *** an F_(2:3)variation population,the actual performance of the loci showing expected depression was evaluated considering the heterozygosity decay in the background after *** found inconsistent or various degrees of background depression from the F_(2)to F_(3)generation assuming different genotypes of the target locus,which may affect the actual depression effect of the locus due to *** results suggest that the genetic architecture of inbreeding depression and heterosis is closely linked but also differs in their intrinsic mechanisms,which expand our understanding of the whole-genome architecture of inbreeding depression.

关键词： rice inbreeding depression spikelet development dominance segregation distortion epistasis

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Preimplantation genetic testing for embryos predisposed to hereditary cancer:Possibilities and challenges

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Cancer Pathogenesis and Therapy 2024年第1期2卷 1-14页

作者： Mohammed H.Albujja Maher Al-Ghedan Lakshmidevi Dakshnamoorthy Josep Pla Victori Department of Forensic Sciences Naif Arab University for Security SciencesRiyadh 11452Saudi Arabia genetics Laboratory Thuriah Medical CenterRiyadh 11523Saudi Arabia Department of genetic Counselling VI-RMA GlobalValencia 46004Spain

Preimplantation genetic testing(PGT),which was developed as an alternative to prenatal genetic testing,allows couples to avoid pregnancies with abnormal chromosomes and the subsequent termination of the affected *** used for early onset monogenic conditions,PGT is now used to prevent various types of inherited cancer conditions based on the development of PGT technology,assisted reproductive techniques(ARTs),and in vitro fertilization(IVF).This review provides insights into the potential benefits and challenges associated with the application of PGT for hereditary cancer and provides an overview of the existing literature on this test,with a particular focus on the current challenges related to laws,ethics,counseling,and ***,this review predicts the future potential applications of this *** PGT may be utilized to predict and prevent hereditary cancer,each case should be comprehensively *** motives of couples must be assessed to prevent the misuse of this technique for eugenic purposes,and non-pathogenic phenotypes must be carefully *** cases that require this technology should also be carefully considered based on legal and ethical *** may be the preferred treatment for hereditary cancer cases;however,such cases require careful case-by-case ***,this study concludes that multidisciplinary counseling and support for patients and their families are essential to ensure that PGT is a viable option that meets all legal and ethical concerns.

关键词： Preimplantation genetic testing Hereditary cancer Late-onset diseases Ethics Legal restrictions

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genetic testing and prenatal diagnosis of 64 pedigrees with autosomal dominant polycystic kidney disease

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China Medical Abstracts(Internal Medicine) 2024年第1期41卷 53-54页

作者：王莉 genetic&Prenatal Diag center 1st Affil HospZhengzhou UnivZhengzhou 450052

Objective To detect and analyze the gene variation types of 64 unrelated pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD),and explore the detection efficiency of multiple gene analysis techniques and variation *** The clinical data of 64 pedigrees with ADPKD from Nephrology Department or genetic and Prenatal diagnosis center of the First Affiliated Hospital of Zhengzhou University from December 2017 to August 2020 were retrospectively analyzed.

关键词： diagnosis kidney clinical

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genetic analysis and fine mapping of a grain size QTL in the smallgrain sterile rice line Zhuo201S

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Journal of Integrative Agriculture 2024年第7期23卷 2155-2163页

作者： Bin Lei Jiale Shao Feng Zhang Jian Wang Yunhua Xiao Zhijun Cheng Wenbang Tang Jianmin Wan College of Agronomy Hunan Agricultural UniversityChangsha 410128China National Key Facility for Crop Gene Resources and genetic Improvement/Institute of Crop Sciences Chinese Academy of Agricultural SciencesBeijing 100081China State Key Laboratory for Crop genetics and Germplasm Enhancement/Jiangsu Plant Gene Engineering Research center Nanjing Agricultural UniversityNanjing 210095China State Key Laboratory of Hybrid Rice Hunan Hybrid Rice Research CenterChangsha 410125China

The development and application of the small-grain rice sterile line Zhuo201S(Z201S)has demonstrated its potential for mechanized hybrid rice seed production,leading to significant cost ***,the molecular mechanism responsible for the small-grain size characteristic of Z201S remains *** this study,we conducted a genetic analysis using near-isogenic lines constructed from Z210S,a small-grain rice sterile line,and R2115,a normal-grain *** results revealed that the small-grain trait in Z201S is governed by a single partially dominant gene which also enhances grain *** mapping,we localized the causal gene to the short arm of chromosome 2,within a 113 kb physical region delimited by the molecular markers S2-4-1 and *** analysis and gene expression assays indicated LOC_Os02g14760 as the most likely candidate gene,suggesting that the small-grain size trait of Z201S is controlled by a novel locus that has not been previously identified.

关键词： rice grain size map-based cloning

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The key mediator of diabetic kidney disease:Potassium channel dysfunction

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Genes & Diseases 2024年第4期11卷 188-200页

作者： Jia Guo Chaojie Zhang Hui Zhao Yufan Yan Zhangsuo Liu Nephrology Research center The First Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan 450052China Key Laboratory of Precision diagnosis and Treatment for Chronic Kidney Disease in Henan Province ZhengzhouHenan 450052China Research center for Kidney Disease ZhengzhouHenan 450052China

Diabetic kidney disease is a leading cause of end-stage renal disease,making it a global public health *** molecular mechanisms underlying diabetic kidney disease have not been elucidated due to its complex ***,exploring these mechanisms from new perspectives is the current focus of research concerning diabetic kidney *** channels are important proteins that maintain the physiological functions of cells and *** ion channels,potassium channels stand out,because they are the most common and important channels on eukaryotic cell surfaces and function as the basis for cell *** potassium channel abnormalities have been found to be closely related to diabetic kid-ney disease progression and genetic susceptibility,such as K_(ATP),K_(ca),K_(ir),and K_(v).In this review,we summarized the roles of different types of potassium channels in the occurrence and devel-opment of diabetic kidney disease to discuss whether the development of DKD is due to potas-sium channel dysfunction and present new ideas for the treatment of DKD.

关键词： Channel dysfunction Diabetic kidney disease End-stage renal disease lon channel Potassium

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Innovative computational tools provide new insights into the polyploid wheat genome

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aBIOTECH 2024年第1期5卷 52-70页

作者： Yongming Chen Wenxi Wang Zhengzhao Yang Huiru Peng Zhongfu Ni Qixin Sun Weilong Guo Frontiers Science center for Molecular Design Breeding Key Laboratory of Crop Heterosis and UtilizationBeijing Key Laboratory of Crop Genetic ImprovementChina Agricultural UniversityBeijing 100193China

Bread wheat(Triticum aestivum)is an important crop and serves as a significant source of protein and calories for humans,***,its large and allopolyploid genome poses constraints on genetic *** complex reticulate evolutionary history and the intricacy of genomic resources make the deciphering of the functional genome considerably more ***,we have developed a comprehensive list of versatile computational tools with the integration of statistical models for dissecting the polyploid wheat ***,we summarize the methodological innovations and applications of these tools and databases.A series of step-by-step examples illustrates how these tools can be utilized for dissecting wheat germplasm resources and unveiling functional genes associated with important agronomic ***,we outline future perspectives on new advanced tools and databases,taking into consideration the unique features of bread wheat,to accelerate genomic-assisted wheat breeding.

关键词： Polyploid wheat Genome complexity Functional genomics Tool development

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genetic variants in C1GALT1 are associated with gastric cancer risk by influencing immune infiltration

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Journal of Biomedical Research 2024年第4期38卷 348-357页

作者： Mengfan Guo Jingyuan Liu Yujuan Zhang Jingjing Gu Junyi Xin Mulong Du Haiyan Chu Meilin Wang Hanting Liu Zhengdong Zhang Departments of Environmental Genomics and genetic Toxicology the Key Laboratory of Modern Toxicology of Ministry of EducationCenter for Global HealthJiangsu Key Laboratory of Cancer BiomarkersPrevention and TreatmentCollaborative Innovation Center for Cancer Personalized MedicineSchool of Public Health/Institute of Clinical Researchthe Affiliated Taizhou People's Hospital of Nanjing Medical UniversityNanjing Medical UniversityNanjingJiangsu 211166China Departments of Environmental Genomics and genetic Toxicology the Key Laboratory of Modern Toxicology of Ministry of EducationCenter for Global HealthJiangsu Key Laboratory of Cancer BiomarkersPrevention and TreatmentCollaborative Innovation Center for Cancer Personalized MedicineSchool of Public HealthNanjing Medical UniversityNanjingJiangsu 211166China Department of Bioinformatics School of Biomedical Engineering and InformaticsNanjing Medical UniversityNanjingJiangsu 211166China Department of Biostatistics Center for Global HealthSchool of Public HealthNanjing Medical UniversityNanjingJiangsu 211166China

Core 1 synthase glycoprotein-N-acetylgalactosamine 3-β-galactosyltransferase 1(C1GALT1)is known to play a critical role in the development of gastric cancer,but few studies have elucidated associations between genetic variants in C1GALT1 and gastric cancer *** using the genome-wide association study data from the database of Genotype and Phenotype(dbGAP),we evaluated such associations with a multivariable logistic regression model and identified that the rs35999583 G>C in C1GALT1 was associated with gastric cancer risk(odds ratio,0.83;95% confidence interval[CI],0.75-0.92;P=3.95×10^(-4)).C1GALT1 mRNA expression levels were significantly higher in gastric tumor tissues than in normal tissues,and gastric cancer patients with higher C1GALT1 mRNA levels had worse overall survival rates(hazards ratio,1.33;95%CI,1.05-1.68;P_(log-rank)=1.90×10^(-2)).Furthermore,we found that C1GALT1 copy number differed in various immune cells and that C1GALT1 mRNA expression levels were positively correlated with the infiltrating levels of CD4^(+)T cells and *** results suggest that genetic variants of C1GALT1 may play an important role in gastric cancer risk and provide a new insight for C1GALT1 into a promising predictor of gastric cancer susceptibility and immune status.

关键词： O-glycosylation genetic variants immune status gastric cancer

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New insights shed light on the enigma of genetic diversity and species complexity

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Science China Life Sciences 2024年

作者： Zuobin Zhu Conghui Han Shi Huang Xuzhou Engineering Research center of Medical genetics and Transformation Key Laboratory of Genetic Foundation and Clinical Application Xuzhou Medical University Department of Urology Xuzhou Clinical School of Xuzhou Medical University Xuzhou Central Hospital center for Medical genetics School of Life Sciences Central South University

genetic diversity remains poorly understood, but several recent Science papers may shed new light on this long-standing puzzle (Exposito-Alonso et al., 2022; Gao et al., 2023; Kuderna et al., 2023).Exposito-Alonso et al.(2022) demonstrated that a reduction in environmental diversity, including species habitat and living environment complexity, leads to a decrease in genetic diversity.

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Plasma proteome profiling reveals biomarkers of chemotherapy resistance in patients with advanced colorectal cancer

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Quantitative Biology 2024年第2期12卷 215-224页

作者： Jingxin Yang Jin Chen Luobin Zhang Fangming Zhou Xiaozhen Cui Ruijun Tian Ruilian Xu Medical genetic center Affiliated Shenzhen Maternity and Child Healthcare HospitalSouthern Medical UniversityShenzhenChina Clinical center for Molecular diagnosis and Therapy The Second Affiliated Hospital of Fujian Medical UniversityQuanzhouChina Department of Chemistry and Research center for Chemical Biology and Omics Analysis School of ScienceSouthern University of Science and TechnologyShenzhenChina Department of Oncology Shenzhen People’s Hospital(The Second Clinical Medical CollegeJinan UniversityThe First Affiliated HospitalSouthern University of Science and Technology)ShenzhenChina

Colorectal cancer(CRC)is one of the most common *** with advanced CRC can only rely on chemotherapy to improve ***,primary drug resistance frequently occurs and is difficult to *** in plasma protein composition have shown potential in clinical ***,it is urgent to identify potential protein biomarkers for primary resistance to chemotherapy for patients with *** sample preparation and high-throughput analysis were used to explore potential plasma protein *** susceptibility testing of circulating tumor cells(CTCs)has been investigated,and the relationship between their values and protein expressions has been *** addition,the differential proteins in different chemotherapy outcomes have been ***,the potential biomarkers have been detected via enzyme-linked immunosorbent assay(ELISA).Plasma proteome of 60 CRC patients were *** correlation between plasma protein levels and the results of drug susceptibility testing of CTCs was performed,and 85 proteins showed a significant positive or negative correlation with chemotherapy ***-four CRC patients were then divided into three groups according to their chemotherapy outcomes(objective response,stable disease,and progressive disease),and 37 differential proteins were found to be related to chemotherapy *** overlapping proteins were further investigated in an additional group of 79 patients using *** levels of F5 and PROZ significantly increased in the progressive disease group compared to other outcome *** study indicated that F5 and PROZ proteins could represent potential biomarkers of resistance to chemotherapy in advanced CRC patients.

关键词： biomarker chemotherapy resistance colorectal cancer plasma proteome

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