Article
Developmental Biology
Wei Zhang, Jiaojiao Yu, Guoquan Fu, Jianying Li, Huarong Huang, Jing Liu, Dongliang Yu, Mengsheng Qiu, Feixue Li
Summary: This study provides the first genetic evidence that the ISL1/SHH/CXCL12 axis regulates myoblast migration during tongue development. Deletion of Isl1 in the mouse mandibular epithelium leads to defects in myoblast migration, which is regulated by the Shh/Wnt5a cascade. Cxcl12+ mesenchymal cells in Isl1ShhCre embryos fail to migrate to the distal region and instead accumulate in the proximal domain of the mandible. This is due to the concentration-dependent bidirectional cue of CXCL12, which attracts myoblast invasion at low concentrations but repels it at high concentrations.
Article
Biochemistry & Molecular Biology
Kumar Vishal, Elizabeth Barajas Alonso, Ashley A. DeAguero, Jennifer A. Waters, Maria B. Chechenova, Richard M. Cripps
Summary: The activity of MEF2, a myogenic regulatory protein, is modulated by post-translational modification. By investigating the phosphorylation of Drosophila MEF2 in vivo, the authors identified that serine 98 is a phosphorylated residue. The study shows that blocking phosphorylation at S98 enhances MEF2 function in myoblasts, but attenuates its function in differentiating muscles.
MOLECULAR AND CELLULAR BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Shuang Gu, Chaoliang Wen, Junying Li, Honghong Liu, Qiang Huang, Jiangxia Zheng, Congjiao Sun, Ning Yang
Summary: This study selected four different breeds of chickens to investigate the temporal expression patterns of key regulatory genes during embryonic muscle development, providing a foundation for understanding the regulation mechanisms. The highest expression level of Myomaker, a crucial gene for myoblast fusion, occurred from embryonic days 13 to 15, with Cornish breed showing the highest expression level. The MYOD gene may play an important role after hatching. Histomorphology analysis suggested that the myofibers were largely complete by embryonic day 17 due to increased expression of MSTN and decreased expression of Myomaker.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Meghali Aich, Asgar Hussain Ansari, Li Ding, Vytautas Iesmantavicius, Deepanjan Paul, Chunaram Choudhary, Souvik Maiti, Frank Buchholz, Debojyoti Chakraborty
Summary: This study reveals that the lncRNA-associated protein TOBF1 regulates the alternative splicing of transcripts necessary for maintaining stem cell identity in mouse ESCs. One of the affected genes is serine/arginine splicing factor 1 (SRSF1), whose splicing leads to global changes in splicing and expression of downstream genes involved in the maintenance of ESC pluripotency. The study shows that TOBF1 chromatin occupancy, pluripotency-associated OCT-SOX binding motifs, and transcripts undergoing differential expression and splicing converge in specific nuclear territories, collectively contributing to the maintenance of mouse ESC identity.
Article
Biochemistry & Molecular Biology
Hala Al Adhami, Judith Vallet, Celia Schaal, Paul Schumacher, Anais Flore Bardet, Michael Dumas, Johana Chicher, Philippe Hammann, Sylvain Daujat, Michael Weber
Summary: Many germline genes are epigenetically repressed in mammals to prevent inappropriate expression in somatic cells. Through studying chromatin signature and conducting a CRISPR-Cas9 knock-out screen, researchers discovered that germline gene repression depends on the polycomb complex PRC1.6 and DNA methylation in mouse embryonic stem cells. They also identified and characterized new genes, including Usp7, Shfm1, and Erh, that contribute to germline gene repression. These findings provide insights into the mechanisms and factors involved in silencing germline genes in embryonic stem cells.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Biology
Ra-Yeong Choi, Bong Sun Kim, Eu-Jin Ban, Minchul Seo, Joon Ha Lee, In-Woo Kim
Summary: This study found that mealworm ethanol extract (TME) can promote myotube formation and increase the expression of muscle-related proteins, enhancing muscle hypertrophy through regulating the mTOR signaling pathway. In the DEX-induced muscle atrophy C2C12 model, TME can reduce the expression of protein degradation-related genes and alleviate Dex-induced muscle atrophy by activating Akt. Therefore, TME has the potential to be a therapeutic agent for treating muscle weakness and atrophy.
Article
Biochemistry & Molecular Biology
Laura Salvadori, Sara Chiappalupi, Iva Arato, Francesca Mancuso, Mario Calvitti, Maria Cristina Marchetti, Francesca Riuzzi, Riccardo Calafiore, Giovanni Luca, Guglielmo Sorci
Summary: Injecting microencapsulated Sertoli cells (SeC) in dystrophic mice leads to recovery of muscle morphology and performance through anti-inflammatory effects and induction of utrophin. SeC stimulate myoblast proliferation, delay differentiation marker expression, inhibit fibroblast fibrogenic potential, and provide functional replacement of dystrophin in DMD myotubes.
Article
Biochemistry & Molecular Biology
Izaskun Mallona, Ioana Mariuca Ilie, Ino Dominiek Karemaker, Stefan Butz, Massimiliano Manzo, Amedeo Caflisch, Tuncay Baubec
Summary: Studies reveal that DNMT3A and DNMT3B exhibit distinct preferences during de novo methylation, which are attributed to differences in their catalytic domains rather than genome recruitment. These preferences are also observed at non-CpG sites, providing new insights into the complex regulation of DNA methylation patterns.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Genetics & Heredity
Ling Ge, Pengwei Su, Shan Wang, Yifei Gu, Xiukai Cao, Xiaoyang Lv, Shanhe Wang, Tesfaye Getachew, Joram M. Mwacharo, Aynalem Haile, Zehu Yuan, Wei Sun
Summary: The expression of LAP3 impacts the development of sheep embryonic myoblasts, playing an important role in cell proliferation and differentiation.
Article
Biotechnology & Applied Microbiology
Pengcheng Lyu, Robert E. Settlage, Honglin Jiang
Summary: Tens of thousands of H3K27ac-marked active enhancers have been identified from bovine satellite cells before or during differentiation. These enhancers contain binding sites not only for transcription factors whose role in satellite cell differentiation is well known but also for transcription factors whose role in satellite cell differentiation is unknown. These enhancers and transcription factors are valuable resources for understanding the complex mechanism that mediates gene expression during satellite cell differentiation.
Article
Cell & Tissue Engineering
Seraina A. Domenig, Nicola Bundschuh, Ajda Lenardic, Adhideb Ghosh, Inseon Kim, Xhem Qabrati, Gommaar D'Hulst, Ori Bar-Nur
Summary: This study introduces a novel method to reprogram fibroblasts from DMD mouse models into iMPCs using MyoD overexpression and small molecule treatment. Genetic correction of the dystrophin mutation in DMD iMPCs was achieved through exon skipping-based approach with CRISPR/Cas9, leading to restoration of protein expression in vivo.
Article
Immunology
Ayla Batu Ozturk, Nail Can Ozturk, Furkan Ayaz
Summary: Many neurodegenerative diseases show neuroinflammation and impaired neuron production in the hippocampus. Immunotherapeutic strategies targeting microglia may be problematic. Instructing monocytes/macrophages from the periphery could be a less invasive strategy. However, the interaction between CNS neurons and macrophages is poorly understood.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Biology
Sheng Wang, Yinlong Liao, Haoyuan Zhang, Yunqi Jiang, Zhelun Peng, Ruimin Ren, Xinyun Li, Heng Wang
Summary: This study elucidates the crucial role of Tcf12 in muscle development and regeneration, showing that its deletion in MuSCs leads to muscle weight loss and delayed regeneration. Tcf12 is essential for chromatin remodelling in MuSCs and works with MYOD to regulate the expression of myogenic genes.
COMMUNICATIONS BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Sara Chiappalupi, Laura Salvadori, Francesca Mancuso, Iva Arato, Mario Calvitti, Francesca Riuzzi, Riccardo Calafiore, Giovanni Luca, Guglielmo Sorci
Summary: Sertoli cells isolated from porcine testes have been found to have direct effects on C2C12 myoblasts, inhibiting oxidative stress and apoptosis in the early phase of differentiation, and promoting myoblast fusion into myotubes. These findings suggest that factors secreted by Sertoli cells can stimulate myoblast proliferation without compromising their myogenic potential.
Article
Biochemistry & Molecular Biology
Joao C. Ribeiro, Raquel L. Bernardino, David F. Carrageta, Graca Soveral, Giuseppe Calamita, Marco G. Alves, Pedro F. Oliveira
Summary: This study explores the role of CFTR in AQPs-mediated glycerol permeability in mouse Sertoli cells. The researchers identified the expression of CFTR, AQP3, AQP7, and AQP9 in mSCs and observed that CFTR inhibition decreased glycerol permeability. They also detected the protein-protein interactions between CFTR and AQP3, AQP7, and AQP9, suggesting that CFTR can modulate AQP-mediated glycerol permeability in mSCs. The findings imply a potential link between male infertility and cystic fibrosis through the malfunction of CFTR and altered glycerol permeability.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Genetics & Heredity
Rolf Brudvik Edvardsen, Ola Wallerman, Tomasz Furmanek, Lene Kleppe, Patric Jern, Andreas Wallberg, Erik Kjaerner-Semb, Stig Maehle, Sara Karolina Olausson, Elisabeth Sundstroem, Torstein Harboe, Ragnfrid Mangor-Jensen, Margareth Mogster, Prescilla Perrichon, Birgitta Norberg, Carl-Johan Rubin
Summary: This study reveals the sex chromosomes and sex determination mechanism of Atlantic halibut through genome sequencing analysis. The research found that male halibut have higher gene activity of the gonadal somatic cell derived factor gene, which is due to the enhanced function of mobile DNA sequences on the sex chromosomes. In addition, the study also found that the behavior of halibut chromosomes is similar to sex chromosomes, which may contribute to the rapid turnover of genetic sex determination systems in fish.
Article
Biochemistry & Molecular Biology
Rakan Naboulsi, Jakub Cieslak, Denis Headon, Ahmad Jouni, Juan J. Negro, Goran Andersson, Gabriella Lindgren
Summary: Gene expression differences can help understand important genetic mechanisms between phenotypic traits. Choosing an appropriate sample collection method can enhance the specificity of results. In this study, RNA-seq was performed on plucked-hair and skin biopsy samples, and cell-type enrichment was compared between the two methods using cell-specific marker genes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Jae-Seung Moon, Shady Younis, Nitya S. Ramadoss, Radhika Iyer, Khushboo Sheth, Orr Sharpe, Navin L. L. Rao, Stephane Becart, Julie A. Carman, Eddie A. James, Jane H. Buckner, Kevin D. Deane, V. Michael Holers, Susan M. Goodman, Laura T. Donlin, Mark M. Davis, William H. Robinson
Summary: This study reveals that cytotoxic CD8(+) T cells targeting ACPA are involved in synovitis and joint tissue destruction in rheumatoid arthritis (RA), contributing to the understanding of the immune mechanisms underlying RA pathogenesis.
NATURE COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Frode Lingaas, Katarina Tengvall, Johan Hogset Jansen, Lena Pelander, Maria H. Hurst, Theo Meuwissen, Asa Karlsson, Jennifer R. S. Meadows, Elisabeth Sundstrom, Stein Istre Thoresen, Ellen Froysadal Arnet, Ole Albert Guttersrud, Marcin Kierczak, Marjo K. Hytonen, Hannes Lohi, Ake Hedhammar, Kerstin Lindblad-Toh, Chao Wang
Summary: This study identified 21 genetic regions associated with chronic kidney disease (CKD) in a boxer population, and investigated the relevant genes and regulatory variants in these regions. Studies of canine CKD may help understand kidney disease in both dogs and humans, and have potential for early identification of high-risk individuals.
Article
Genetics & Heredity
Gustaf Brander, Cecilia Rohdin, Matteo Bianchi, Kerstin Bergvall, Goran Andersson, Ingrid Ljungvall, Karin Hultin Jaderlund, Jens Haggstrom, Ake Hedhammar, Kerstin Lindblad-Toh, Katarina Tengvall
Summary: Pug dogs with thoracolumbar myelopathy (PDM) exhibit a specific clinical phenotype, characterized by progressive pelvic limb ataxia, paresis, and incontinence. Various factors, such as vertebral column malformations, excessive scar tissue, and central nervous system inflammation, have been associated with PDM. Genetic risk factors are believed to play a role in the development of this disorder, as indicated by its breed-specific presentation. Through genome-wide association studies, several loci and candidate genes related to bone homeostasis, scar tissue, inflammation, and cartilage formation have been identified as potentially relevant to the pathogenesis of PDM.
Article
Agriculture, Dairy & Animal Science
Hikmayani Iskandar, Goeran Andersson, Herry Sonjaya, Raden Iis Arifiantini, Syahruddin Said, Hasbi Hasbi, Tulus Maulana, Abdullah Baharun
Summary: In this study, LC-MS/MS analysis was used to analyze the seminal plasma of Bali bulls and explore the total protein, expression, and inferred function of these proteins. Six proteins associated with fertility were identified and considered as potential biomarkers of fertility in Bali bulls.
Article
Agronomy
Benmeng Liang, Yuhetian Zhao, Yabin Pu, Xiaohong He, Jiangang Han, Baima Danzeng, Yuehui Ma, Jianfeng Liu, Lin Jiang
Summary: Through the analysis of 448 individuals from 24 Tibetan sheep populations in different regions, we successfully constructed specific SNP genetic marker sets for the identification of Tibetan sheep breeds at the molecular level, including Yunnan-Tibetan sheep, Zuogong, Heizang, Gongga, and Tao sheep.
Article
Agronomy
Dandan Wang, Shengnan Wang, Wenjie Tian, Yuehui Ma, Lin Jiang
Summary: This study found that ZBED6 KO pigs had heavier spleens. RNA sequencing analysis revealed significantly upregulated IGF2 mRNA in the spleen of ZBED6 KO pigs. Functional enrichment analysis showed enrichment mainly in myofibril assembly and sarcomere. IGF2, DE-lnRNAs, and ACTN2 may be the key candidate genes in promoting spleen growth in ZBED6 KO pigs.
Article
Multidisciplinary Sciences
Shady Younis, Alice Jouneau, Marten Larsson, Jean-Francois Oudin, Pierre Adenot, Jihad Omar, Vincent Brochard, Leif Andersson
Summary: Zc3h11a is crucial for embryonic viability and survival, as well as involved in metabolic regulation of embryonic cells. Inactivation of Zc3h11a expression in adult tissues does not lead to obvious phenotypic defects.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Genetics & Heredity
Anna Letko, Benoit Hedan, Anna Snell, Alexander C. Harris, Vidhya Jagannathan, Goran Andersson, Bodil S. Holst, Elaine A. Ostrander, Pascale Quignon, Catherine Andre, Tosso Leeb
Summary: Bernese mountain dogs are a large dog breed with a complex genomic architecture due to high levels of inbreeding and relatedness. They are multi-purpose companion and family dogs, but are predisposed to several genetic disorders. The analysis of whole-genome sequencing data revealed limited clustering between European and USA dogs and identified several fixed regions harboring genetic variants associated with morphological traits and diseases. The breed's strong predisposition to hematopoietic cancers may be attributed to the presence of immune cell-regulating genes in shared runs of homozygosity.
Article
Agriculture, Dairy & Animal Science
Qian Chen, Chang Huang, Yinxiao Su, Qian Zhao, Yabin Pu, Xiaohong He, Lin Jiang, Yuehui Ma, Qianjun Zhao, Shaohui Ye
Summary: In this study, the transcriptional profile of ovine skeletal muscle satellite cells was constructed using the RNA-Seq method. A total of 1954 DEGs, 1479 AS, and 253 TFs were detected during SMSC proliferation and differentiation. GO and KEGG analyses showed enrichment of the MAPK signaling pathway, PI3K-Akt signaling pathway, Wnt signaling pathway, and Ras signaling pathway. This study provides valuable insights into the transcriptional regulation of SMSCs during proliferation and differentiation and contributes to our understanding of the molecular mechanisms underlying myogenesis and muscle development.
Article
Agriculture, Dairy & Animal Science
Ruonan Li, Yuhetian Zhao, Benmeng Liang, Yabin Pu, Lin Jiang, Yuehui Ma
Summary: In this study, whole-genome sequences were analyzed to investigate the genetic signatures of milk production in dairy sheep, and 553 genes were found to be related to milk production. The validation experiment showed that the FCGR3A gene has a significant negative relationship with milk production. This study provides a basis for further research on the genetic mechanism underlying milk production traits in sheep.
Article
Biology
Yuanyuan Luan, Shangjie Wu, Mingkun Wang, Yabin Pu, Qianjun Zhao, Yuehui Ma, Lin Jiang, Xiaohong He
Summary: Horns, a unique structure of ruminants, are closely related to natural and sexual selection, as well as the breeding of polled sheep. In this study, the gene expression profile of horn buds in sheep fetuses was investigated using RNA-seq technology. The study identified 68 differentially expressed genes, including RXFP2, FOXL2, and TNN, and found that the Wnt signaling pathway may be responsible for horn development. This study provides new possible marker genes for understanding the genetic mechanisms of sheep horn formation.
Article
Biology
Ling Liu, Shengnan Wang, Wenjie Tian, Cheng Xu, Chengjie Wei, Kai Cui, Lin Jiang, Dandan Wang
Summary: Zbed6 single-allele knockout promotes an increase in skeletal muscle weight and muscle fiber area in mice by regulating another target gene.
Article
Biochemistry & Molecular Biology
Jason Hill, Erik D. Enbody, Huijuan Bi, Sangeet Lamichhaney, Weipan Lei, Juexin Chen, Chentao Wei, Yang Liu, Doreen Schwochow, Shady Younis, Fredrik Widemo, Leif Andersson
Summary: A paradox in evolutionary biology is how supergenes can maintain high fitness despite reduced effective population size, the suppression of recombination, and the expected accumulation of mutational load. The ruff supergene involves 2 rare inversion haplotypes (satellite and faeder). These are recessive lethals but with dominant effects on male mating strategies, plumage, and body size. Sequence divergence to the wild-type (independent) haplotype indicates that the inversion could be as old as 4 million years. Here, we have constructed a highly contiguous genome assembly of the inversion region for both the independent and satellite haplotypes. Based on the new data, we estimate that the recombination event(s) creating the satellite haplotype occurred only about 70,000 yr ago. Contrary to expectations for supergenes, we find no substantial expansion of repeats and only a modest mutation load on the satellite and faeder haplotypes despite high sequence divergence to the non-inverted haplotype (1.46%). The essential centromere protein N (CENPN) gene is disrupted by the inversion and is as well conserved on the inversion haplotypes as on the noninversion haplotype. These results suggest that the inversion may be much younger than previously thought. The low mutation load, despite recessive lethality, may be explained by the introgression of the inversion from a now extinct lineage.
MOLECULAR BIOLOGY AND EVOLUTION
(2023)
