Article
Cell Biology
Peta Hill, Foyez Shams, Christopher P. Burridge, Erik Wapstra, Tariq Ezaz
Summary: This study explores the links between mechanisms of transitions in sex determination and sex chromosome evolution by studying the rare species Carinascincus ocellatus and its relative Liopholis whitii. Unique and conserved regions of the Y chromosome were identified among different populations of C. ocellatus, with no evidence of sex chromosome homology between C. ocellatus and L. whitii, indicating independent evolutionary origins. The study also discusses sex chromosome homology within the subfamily Lygosominae and proposes connections between sex chromosome evolution, sex determination transitions, and karyotype evolution.
Article
Biology
Peta Hill, Geoffrey M. While, Christopher P. Burridge, Tariq Ezaz, Kirke L. Munch, Mary McVarish, Erik Wapstra
Summary: This study found evidence of sex reversal in the viviparous reptile Carinascincus ocellatus, and showed that the frequency of sex reversal is related to temperature. The study also suggests that XX-biased genotypic sex ratios could produce either male- or female-biased phenotypic sex ratios, depending on the rate of XX sex reversal.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Review
Biochemical Research Methods
Jiashu Liu, Cui-Xiang Lin, Xiaoqi Zhang, Zongxuan Li, Wenkui Huang, Jin Liu, Yuanfang Guan, Hong-Dong Li
Summary: Alternative splicing (AS), a key pathway for transcriptional regulation, has been shown to be associated with complex diseases. Computational approaches for detecting disease-associated AS events have been developed. This review discusses the metrics used for characterizing AS events quantitatively. It also reviews and discusses three types of methods for detecting disease-associated splicing events: differential splicing analysis, aberrant splicing detection, and splicing-related network analysis. Additionally, methods for detecting genetic variants that potentially regulate splicing are described. Experimental comparisons are conducted to illustrate the performance of each method. The limitations of these methods are discussed, as well as potential ways to address them. This review aims to provide a systematic understanding of computational approaches for analyzing disease-associated splicing.
BRIEFINGS IN BIOINFORMATICS
(2023)
Review
Endocrinology & Metabolism
Panyisha Wu, Moya Zhang, Nicholas J. G. Webster
Summary: Alternative RNA splicing is an important biological process that has been linked to various clinical syndromes, but its applicability to common diseases is still uncertain. This review focuses on the changes in alternative RNA splicing in fatty liver disease and the role of splicing regulation in disease progression.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Ecology
Peta Hill, Erik Wapstra, Tariq Ezaz, Christopher P. Burridge
Summary: Polymorphisms can result in genetic isolation when populations have divergent sex determination mechanisms, leading to isolation. Study on viviparous snow skinks suggests that populations with different sex determination mechanisms may be genetically isolated.
ECOLOGY AND EVOLUTION
(2021)
Article
Biochemistry & Molecular Biology
Carmelo Gurnari, Simona Pagliuca, Valeria Visconte
Summary: Alternative RNA splicing is an essential physiological function that plays a crucial role in cellular development. RNA splicing dysfunction has been implicated in the development of several cancers, including myeloid malignancies. Cancer cells exhibit marked gene expression alterations, including different usage of AS isoforms, potentially causing tissue-specific effects and disruptions of downstream pathways.
Review
Immunology
Jianli Zhou, Qiao Zhang, Yuzhen Zhao, Yuchen Song, Yanan Leng, Moxian Chen, Shaoming Zhou, Zhaoxia Wang
Summary: Inflammatory bowel disease (IBD) is a group of chronic diseases including Crohn's disease and ulcerative colitis, which have a global impact on both children and adults. The burden of IBD is increasing worldwide, and the costs associated with it are high. The pathogenesis of IBD is still unclear, but is believed to be related to environmental factors, gut microbiota, immune imbalance, and genetic susceptibility. This article reviews the research progress on alternative splicing events, splicing factors, and splicing mutations associated with IBD.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Oncology
Anthony J. Murphy, Alex H. Li, Peichao Li, Hong Sun
Summary: Alternative splicing plays a crucial role in diversifying the proteome and has significant implications in cancer development. Recent studies have highlighted the important roles of SR proteins in cancer progression. Understanding the spliceosome and its relationship to cancer has opened up new opportunities for therapeutic interventions based on alternative splicing.
FRONTIERS IN ONCOLOGY
(2022)
Article
Genetics & Heredity
Qi Liu, Leiming Fang, Chengjun Wu
Summary: Alternative splicing of pre-mRNA is a key mechanism for increasing protein complexity, leading to diversity of transcriptomes and proteomes in a tissue-specific manner. Changes and errors in splicing regulation caused by splicing factors are closely related to various diseases. Understanding cellular factors that mediate alternative splicing regulation is a potential avenue for developing specific drugs targeting the dynamic RNA splicing process.
Article
Cell Biology
Zhe Liu, Wei Wang, Xinru Li, Xiujuan Zhao, Hongyu Zhao, Wuritu Yang, Yongchun Zuo, Lu Cai, Yongqiang Xing
Summary: Alternative splicing plays an important role in zebrafish embryo development, especially during the maternal-to-zygotic transition process where it is highly abundant and dynamic. Splicing factors are expressed with developmental stage specificity, with a higher expression during the maternal-to-zygotic transition. The inclusion level of alternative splicing events performs well in cluster analysis and can be used as a novel parameter.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Oncology
Jiawei Ouyang, Yijie Zhang, Fang Xiong, Shanshan Zhang, Zhaojian Gong, Qijia Yan, Yi He, Fang Wei, Wenling Zhang, Ming Zhou, Bo Xiang, Fuyan Wang, Xiaoling Li, Yong Li, Guiyuan Li, Zhaoyang Zeng, Can Guo, Wei Xiong
Summary: This article introduces the definition of alternative splicing in eukaryotes and its importance in cancer development. Alternative splicing is a transcription process that allows coding genes to be translated into multiple proteins with different functions. Alterations in splicing mechanisms may lead to changes in the splicing patterns of cancer-related genes.
AMERICAN JOURNAL OF CANCER RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Yuanjiao Zhang, Jinjun Qian, Chunyan Gu, Ye Yang
Summary: The study systematically describes the abnormal regulation and functions of alternative splicing in tumors, as well as introduces therapeutic strategies targeting splicing catalysis and regulatory proteins. Further research is needed to fully understand the association between alternative splicing and cancer.
SIGNAL TRANSDUCTION AND TARGETED THERAPY
(2021)
Article
Biotechnology & Applied Microbiology
Feiyang Zhao, Yubin Yan, Yaxi Wang, Yuan Liu, Ruolin Yang
Summary: The study reveals the prevalence of highly splicing complex exons in mammals and their correlation with gene features. The splicing complexity of exons can be moderately predicted using machine learning and deep learning methods. Both developmentally regulated and non-developmentally regulated exons show dynamic splicing complexity during organ development.
Article
Biochemistry & Molecular Biology
Jie Xiao, Wen-Xiong Wang
Summary: The transcript variant and alternative splicing play crucial roles in zebrafish development, regulating stage-specific functions by adjusting gene expression and generating diverse protein isoforms.
JOURNAL OF MOLECULAR BIOLOGY
(2022)
Review
Plant Sciences
Xiao-Xiao Liu, Qian-Huan Guo, Wei-Bo Xu, Peng Liu, Kang Yan
Summary: Plants use diverse strategies and complex regulations to adapt to changing environmental conditions. In addition to direct gene transcription regulation, alternative splicing plays a crucial role in coping with various stresses.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Public, Environmental & Occupational Health
Bertrand Lell, Benjamin Mordmueller, Jean-Claude Dejon Agobe, Josiane Honkpehedji, Jeannot Zinsou, Juliana Boex Mengue, Marguerite Massinga Loembe, Ayola Akim Adegnika, Jana Held, Albert Lalremruata, The Trong Nguyen, Meral Esen, K. C. Natasha, Adam J. Ruben, Sumana Chakravarty, B. Kim Lee Sim, Peter F. Billingsley, Eric R. James, Thomas L. Richie, Stephen L. Hoffman, Peter G. Kremsner
AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE
(2018)
Article
Microbiology
Mirjam Groger, Luzia Veletzky, Albert Lalremruata, Chiara Cattaneo, Johannes Mischlinger, Rella Zoleko-Manego, Lilian Endamne, Anna Klicpera, Johanna Kim, The Nguyen, Lena Flohr, Jonathan Remppis, Pierre-Blaise Matsiegui, Ayola A. Adegnika, Selidji T. Agnandji, Peter G. Kremsner, Benjamin Mordmueller, Ghyslain Mombo-Ngoma, Michael Ramharter
ANTIMICROBIAL AGENTS AND CHEMOTHERAPY
(2018)
Article
Anesthesiology
K. A. McLean, J. C. Glasbey, A. Borakati, T. M. Brooks, M. K. Abd Ghaffar
BRITISH JOURNAL OF ANAESTHESIA
(2019)
Article
Immunology
Jean Claude Dejon-Agobe, Ulysse Ateba-Ngoa, Albert Lalremruata, Andreas Homoet, Julie Engelhorn, Odilon Paterne Nouatin, Jean Ronald Edoa, Jose F. Fernandes, Meral Esen, Yoanne Darelle Mouwenda, Eunice M. Betouke Ongwe, Marguerite Massinga-Loembe, Stephen L. Hoffman, B. Kim Lee Sim, Michael Theisen, Peter G. Kremsner, Ayola A. Adegnika, Bertrand Lell, Benjamin Mordmueller
CLINICAL INFECTIOUS DISEASES
(2019)
Article
Immunology
Miriam Groger, Luzia Veletzky, Albert Lalremruata, Chiara Cattaneo, Johannes Mischlinger, Rella Manage Zoleko, Johanna Kim, Anna Klicpera, Elias L. Meyer, Daniel Blessborn, Markus Winterberg, Ayola A. Adegnika, Selidji T. Agnandji, Peter G. Kremsner, Benjamin Mordmueller, Ghyslain Mombo-Ngoma, Hans-Peter Fuehrer, Michael Ramhartert
CLINICAL INFECTIOUS DISEASES
(2019)
Article
Multidisciplinary Sciences
Tamirat Gebru Woldearegai, Albert Lalremruata, The Trong Nguyen, Markus Gmeiner, Luzia Veletzky, Gildas B. Tazemda-Kuitsouc, Pierre Blaise Matsiegui, Benjamin Mordmueller, Jana Held
SCIENTIFIC REPORTS
(2019)
Article
Infectious Diseases
The Trong Nguyen, Brice Nzigou Mombo, Albert Lalremruata, Erik Koehne, Rella Zoleko Manego, Lia Betty Dimessa Mbadinga, Ayola Akim Adegnika, Selidji Todagbe Agnandji, Bertrand Lell, Peter Gottfried Kremsner, Thirumalaisamy P. Velavan, Michael Ramharter, Benjamin Mordmueller, Ghyslain Mombo-Ngoma
Article
Microbiology
Albert Lalremruata, The Trong Nguyen, Matthew B. B. McCall, Ghyslain Mombo-Ngoma, Selidji T. Agnandji, Ayola A. Adegnika, Bertrand Lell, Michael Ramharter, Stephen L. Hoffman, Peter G. Kremsner, Benjamin Mordmueller
JOURNAL OF CLINICAL MICROBIOLOGY
(2020)
Article
Infectious Diseases
Bayode R. Adegbite, Jean R. Edoa, Yabo J. Honkpehedji, Frejus J. Zinsou, Jean C. Dejon-Agobe, Mirabeau Mbong-Ngwese, Fabrice Lotola-Mougueni, Erik Koehne, Albert Lalremruata, Andrea Kreidenweiss, The T. Nguyen, Jutta Kun, Selidji T. Agnandji, Bertrand Lell, Abdou R. Safiou, Fridia A. Obone Atome, Ghyslain Mombo-Ngoma, Michael Ramharter, Thirumalaisamy P. Velavan, Benjamin Mordmueller, Peter G. Kremsner, Ayola A. Adegnika
Article
Public, Environmental & Occupational Health
Wolfram G. Metzger, Antje Theurer, Anne Pfleiderer, Zsofia Molnar, Ditte Maihoefer-Braatting, Alfred L. Bissinger, Zita Sulyok, Carsten Koehler, Diane Egger-Adam, Albert Lalremruata, Meral Esen, Kim Lee Sim, Stephen Hoffman, Regina Rabinovich, Carlos Chaccour, Pedro Alonso, Benjamin G. Mordmueller, Peter G. Kremsner
TROPICAL MEDICINE & INTERNATIONAL HEALTH
(2020)
Article
Medicine, General & Internal
Andrea Kreidenweiss, Franziska Trauner, Miriam Rodi, Erik Koehne, Jana Held, Lea Wyndorps, Gedeon Prince Manouana, Matthew McCall, Ayola Akim Adegnika, Albert Lalremruata, Peter G. Kremsner, Rolf Fendel, Thaisa Lucas Sandri
Article
Developmental Biology
Jeannine M. Basta, Ajeet P. Singh, Lynn Robbins, Lisa Stout, Michelle Pherson, Michael Rauchman
DEVELOPMENTAL BIOLOGY
(2020)
Article
Multidisciplinary Sciences
Zita Sulyok, Rolf Fendel, Bianca Eder, Freia-Raphaella Lorenz, K. C. Natasha, Matthias Karnahl, Albert Lalremruata, The T. Nguyen, Jana Held, Folashade Almeine Cyntiche Adjadi, Torsten Klockenbring, Judith Flugge, Tamirat Gebru Woldearegai, Carlos Lamsfus Calle, Javier Ibanez, Miriam Rodi, Diane Egger-Adam, Andrea Kreidenweiss, Carsten Kohler, Meral Esen, Mihaly Sulyok, Anita Manoj, Thomas L. Richie, B. Kim Lee Sim, Stephen L. Hoffman, Benjamin Mordmuller, Peter G. Kremsner
Summary: The study reports the results of a trial on a simplified PfSPZ-CVac immunization regimen, demonstrating its high efficacy, safety, good tolerability, and high immunogenicity in malaria-naive participants.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Ajeet P. Singh, Huacheng Luo, Meghana Matur, Melanie A. Eshelman, Karina Hamamoto, Arati Sharma, Julia Lesperance, Suming Huang
Summary: MicroRNAs (miRNAs) and long noncoding RNAs (lncRNAs) play crucial roles in regulating gene expression. The interaction between HOTTIP lncRNA and miRNAs in leukemogenesis is not well understood. Research shows that HOTTIP directly controls certain miRNA genes, impacting HOX cluster miRNAs expression and promoting leukemogenesis through chromatin remodeling. Inactivation of HOTTIP or miR-196b induces apoptosis and affects FAS gene expression in AML cells.
Article
Gastroenterology & Hepatology
Ajeet P. Singh, Yu-Han Hung, Michael T. Shanahan, Matt Kanke, Alessandro Bonfini, Michael K. Dame, Mandy Biraud, Bailey C. E. Peck, Oyebola O. Oyesola, John M. Freund, Rebecca L. Cubitt, Ennessa G. Curry, Liara M. Gonzalez, Gavin A. Bewick, Elia D. Tait-Wojno, Natasza A. Kurpios, Shengli Ding, Jason R. Spence, Christopher M. Dekaney, Nicolas Buchon, Praveen Sethupathy
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2020)
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.