Featured
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Article
| Open AccessGlobal genetic diversity, introgression, and evolutionary adaptation of indicine cattle revealed by whole genome sequencing
Indicine cattle make up half of all cattle populations worldwide. Using a large genomic dataset, this study finds historic migrations and extensive introgression with domestic and wild bovine species has facilitated this species physiological adaptation to extreme environments.
- Ningbo Chen
- , Xiaoting Xia
- & Chuzhao Lei
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Article
| Open AccessOVOL2 sustains postnatal thymic epithelial cell identity
The molecular mechanisms that maintain thymic epithelial cell (TEC) identity throughout life are incompletely understood. Here, the authors demonstrate that the transcription factor, Ovol2, maintains post-natal TECs by preventing their epithelial-to-mesenchymal transition.
- Xue Zhong
- , Nagesh Peddada
- & Bruce Beutler
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Article
| Open AccessDNA polymerase ε harmonizes topological states and R-loops formation to maintain genome integrity in Arabidopsis
Here the authors show that Inhibition of DNA topoisomerase 1 (TOP1i) increases the defects in root growth of a DNA damage repair-compromised mutant atm. They identify a mutant DNA polymerase ε (POL2A) which rescues the sensitivity of atm to TOP1i by modulating R-loops dynamics near DNA replication origins.
- Qin Li
- , Jincong Zhou
- & Qianwen Sun
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Article
| Open AccessA papain-like cysteine protease-released small signal peptide confers wheat resistance to wheat yellow mosaic virus
Soil-borne wheat yellow mosaic virus (WYMV) poses a serious threat to global wheat production. Here, the authors report that the nuclear inclusion protease-a produced by WYMV interacts with a small peptide catalyzed by TaRD21A protease activity to mediate WYMV resistance through activating MAPK signaling pathway.
- Peng Liu
- , Chaonan Shi
- & Jian Yang
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Article
| Open AccessThe rate of epigenetic drift scales with maximum lifespan across mammals
Epigenetic drift has been hypothesized to contribute to epigenetic clock signals and variation in lifespan across species. Here, the authors show that an empirical measure of epigenetic drift scales with maximum lifespan across four mammal species and accumulates in non-random genomic locations.
- Emily M. Bertucci-Richter
- & Benjamin B. Parrott
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Article
| Open AccessGene duplication and deletion caused by over-replication at a fork barrier
Gene duplications and deletions are important drivers of evolution and disease. Here, the authors show that excess DNA generated at a replication fork barrier can be integrated at a new genomic site causing both a gene duplication and a deletion.
- Judith Oehler
- , Carl A. Morrow
- & Matthew C. Whitby
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Article
| Open AccessEvaluation of circulating plasma proteins in breast cancer using Mendelian randomisation
Proteomics of blood samples is a promising avenue for cancer diagnosis. Here, the authors conduct Mendelian randomisation analysis of protein levels across multiple cohorts, and identify 5 proteins that show promise as biomarkers for the long-term risk of breast cancer, and as potential drug targets.
- Anders Mälarstig
- , Felix Grassmann
- & Åsa K. Hedman
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Article
| Open AccessGlobal pathogenomic analysis identifies known and candidate genetic antimicrobial resistance determinants in twelve species
A global analysis of antimicrobial resistance (AMR) across 27,155 genomes and 69 drugs reveals patterns in AMR gene transfer between species and identifies 142 AMR gene candidates, two of which were tested and confirmed as contributing to AMR.
- Jason C. Hyun
- , Jonathan M. Monk
- & Bernhard O. Palsson
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Article
| Open AccessACS-20/FATP4 mediates the anti-ageing effect of dietary restriction in C. elegans
Dietary restriction is one of the most effective ways to delay ageing. Here, the authors discover a highly conserved lipid metabolism gene functions through transcriptional regulation mechanisms to regulate proteostasis, lifespan and healthspan in response to low nutrients in C. elegans.
- Zi Wang
- , Lina Zou
- & Di Chen
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Article
| Open AccessIn vivo imaging of mitochondrial DNA mutations using an integrated nano Cas12a sensor
Mutations in mitochondrial DNA (mtDNA) play critical roles in human diseases. Here, the authors describe an integrated Cas12a sensor for sensing mtDNA mutations in vivo, showing potential for diagnostic and therapeutic purposes.
- Yanan Li
- , Yonghua Wu
- & Kaixiang Zhang
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Article
| Open AccessHigh-resolution temporal profiling of E. coli transcriptional response
Understanding how cells dynamically adapt to their environment is important, but temporal information about cellular behaviour is often limited. Here, Miano et al. apply unsupervised machine learning to a dataset describing the activity of over 1,800 promoters in E. coli, measured every 10 minutes, defining three primary stages of promoter activation in response to heavy metal stress.
- Arianna Miano
- , Kevin Rychel
- & Jeff Hasty
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Article
| Open AccessFear extinction is regulated by the activity of long noncoding RNAs at the synapse
Synaptic activity controls the extinction of conditioned fear. Here the authors discovered a new way that the brain controls memories of fear: a long noncoding RNA called Gas5 that coordinates the activity of RNA granules in the synaptic compartment.
- Wei-Siang Liau
- , Qiongyi Zhao
- & Timothy W. Bredy
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Article
| Open AccessLoss-of-function of an α-SNAP gene confers resistance to soybean cyst nematode
Here, the authors show that the soybean GmSNAP02 gene confers a unique mode of resistance to the soybean cyst nematode Heterodera glycines through loss-of-function mutations that implicate GmSNAP02 as a nematode virulence target.
- Mariola Usovsky
- , Vinavi A. Gamage
- & Andrew M. Scaboo
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Article
| Open AccessTargetable lesions and proteomes predict therapy sensitivity through disease evolution in pediatric acute lymphoblastic leukemia
The role of clonal evolution on the actionable proteome and response to therapy in childhood acute lymphoblastic leukemia (ALL) remains unknown. Here, targeted sequencing and proteomic analysis of paired ALL diagnosis and relapsed samples revealed PARP1 as a potential therapeutic target.
- Amanda C. Lorentzian
- , Jenna Rever
- & Philipp F. Lange
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Article
| Open AccessLHP1-mediated epigenetic buffering of subgenome diversity and defense responses confers genome plasticity and adaptability in allopolyploid wheat
The regulation of genetic diversity resulting from polyploidization and its impact on environmental adaptability remain unclear. Here, the authors show that LHP1-mediated epigenetic buffering of subgenome diversity and defense responses confers genome plasticity and adaptability in allopolyploid wheat.
- Zijuan Li
- , Yuyun Zhang
- & Yijing Zhang
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Article
| Open AccessCRISPR-based gene drives generate super-Mendelian inheritance in the disease vector Culex quinquefasciatus
Culex mosquitoes are carriers of major diseases like West Nile virus and are a public health concern. Here the authors present a CRISPR-Cas9 gene drive as a control technology in the Culex quinquefasciatus mosquito species.
- Tim Harvey-Samuel
- , Xuechun Feng
- & Valentino M. Gantz
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Article
| Open AccessTranscriptome-wide association analyses reveal the impact of regulatory variants on rice panicle architecture and causal gene regulatory networks
Panicle architecture significantly determines rice grain yield. Here, the authors investigate the transcriptome of young panicles from 275 rice varieties and propose a method to identify causal genes for panicle traits and construct regulatory networks.
- Luchang Ming
- , Debao Fu
- & Weibo Xie
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Article
| Open AccessA toxin-antidote system contributes to interspecific reproductive isolation in rice
Orzya meridionalis is a wild rice species that has reproductive isolation with Asian cultivated rice. Here, the authors report the cloning of the second locus controlling hybrid male sterility between the two species and show the encoded toxin-antidote system provides stacked reproductive isolation for maintaining species identity.
- Shimin You
- , Zhigang Zhao
- & Jianmin Wan
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Article
| Open AccessNanoscale patterning of collagens in C. elegans apical extracellular matrix
The extracellular matrix (ECM) is critical for animal development and intricately patterned at multiple scales. Here Adams and Pooranachithra et al. show how specific collagens are precisely localized to struts, highly patterned sub-micron structures in the nematode cuticle ECM.
- Jennifer R. G. Adams
- , Murugesan Pooranachithra
- & Andrew D. Chisholm
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Article
| Open Accessc-di-GMP inhibits the DNA binding activity of H-NS in Salmonella
H-NS is a global regulatory protein that represses expression of many genes in bacteria. Here, Li et al. show that a second messenger, cyclic di-GMP, binds to H-NS and inhibits its binding to DNA, thus relieving H-NS-mediated transcriptional silencing.
- Shuyu Li
- , Qinmeng Liu
- & Lei Zhang
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Article
| Open AccessGenome-wide CRISPR off-target prediction and optimization using RNA-DNA interaction fingerprints
Analysis of CRISPR-Cas off-targets is important. Here the authors incorporate molecular dynamics simulations in the computational analysis of CRISPR editing and report the CRISOT tool suite and apply this to genome-wide CRISPR off-target prediction and sgRNA optimisation.
- Qinchang Chen
- , Guohui Chuai
- & Qi Liu
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Article
| Open AccessIntegrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture
Kidney stone disease is a complex disorder with high heritability and prevalence. Here, the authors perform a large genome-wide association study meta-analysis, identifying 28 new loci and genes potentially involved in disease etiology.
- Xingjie Hao
- , Zhonghe Shao
- & Chaolong Wang
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Article
| Open AccessAsymmetric CRISPR enabling cascade signal amplification for nucleic acid detection by competitive crRNA
New strategies are being developed to simplify CRISPR-based nucleic acid detection. By investigating the competitive reaction between a full-sized crRNA and split crRNA for CRISPR-Cas12a, the authors develop an asymmetric CRISPR assay for amplification-free, cascade signal amplification detection of nucleic acids.
- Jeong Moon
- & Changchun Liu
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Article
| Open AccessThe homeodomain transcriptional regulator DVE-1 directs a program for synapse elimination during circuit remodeling
Synapse elimination is a critical process in the maturation of brain circuitry. Here the authors identify a key transcriptional program in Caenorhabditis elegans that directs the elimination of juvenile synapses during developmental circuit rewiring.
- Kellianne D. Alexander
- , Shankar Ramachandran
- & Michael M. Francis
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Article
| Open AccessTransposable element-initiated enhancer-like elements generate the subgenome-biased spike specificity of polyploid wheat
The direct impacts of transposable element dynamics on polyploid regulation and developmental specificity remain unclear. Here, the authors show that a large proportion of enhancer-like elements (ELEs) are mainly originated from RLG_famc7.3 specifically expanded in subgenome A, producing active nascent transcripts and influencing wheat spike development.
- Yilin Xie
- , Songbei Ying
- & Yijing Zhang
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Perspective
| Open AccessMulti-omics for studying and understanding polar life
Endangered polar ecosystems play critical roles in the Earth’s climate system and comprise many different habitats with unique organisms. Here, the authors propose a community road map to use multi-omics data from polar organisms for conservation, ecosystem services and societal gain.
- M. S. Clark
- , J. I. Hoffman
- & T. Mock
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Article
| Open AccessMutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Vein of Galen malformations (VOGMs) are severe congenital brain arteriovenous malformations. Here the authors work to elucidate the pathogenesis of VOGMs by performing an integrated analysis of 310 VOGM proband family exomes and 336,326 human cerebrovasculature single-cell transcriptomes to identify mutations of key signaling regulators.
- Shujuan Zhao
- , Kedous Y. Mekbib
- & Kristopher T. Kahle
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Article
| Open AccessThe metabolic, virulence and antimicrobial resistance profiles of colonising Streptococcus pneumoniae shift after PCV13 introduction in urban Malawi
Pneumococcal vaccination has been shown to promote emergence of non-vaccine S. pneumoniae serotypes. Here, the authors use data from Malawi to investigate whether vaccine introduction also results in changes in metabolic, virulence, and antimicrobial resistance profiles of circulating strains.
- Uri Obolski
- , Todd D. Swarthout
- & Robert S. Heyderman
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Article
| Open AccessJoint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
The genetic architecture of normal-range cranial vault shape in humans is poorly understood. Here, the authors extract cranial vault shape from MRI and conduct a multi-ancestry GWAS, identifying 30 independently associated genomic loci of which 29 are novel.
- Seppe Goovaerts
- , Hanne Hoskens
- & Peter Claes
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Article
| Open AccessPan-genome analysis of 13 Malus accessions reveals structural and sequence variations associated with fruit traits
A pan-genome can reduce bias in genetic diversity analysis inherent in using a single reference genome. Here, the authors assemble genomes of 10 diverse apple accessions, conduct pan-genome analysis together with three existing genomes, and reveal the role of mitogen-activated protein kinase homolog MMK2 in fruit coloration.
- Ting Wang
- , Shiyao Duan
- & Ting Wu
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Article
| Open AccessPolyethyleneimine-coated MXene quantum dots improve cotton tolerance to Verticillium dahliae by maintaining ROS homeostasis
Verticillum wilt is an important cotton disease caused by fungal pathogen Verticillium dahiae. Here, the authors assemble the genomes of defoliating and non-defoliating isolates of the pathogen, identify virulence gene SP3, and develop a disease control strategy using polyethyleneimine-coated MXene quantum dots.
- Ping Qiu
- , Jiayue Li
- & Longfu Zhu
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Article
| Open AccessDeep learning of human polyadenylation sites at nucleotide resolution reveals molecular determinants of site usage and relevance in disease
The authors develop deep learning models to identify genome-wide polyA sites at nucleotide resolution and calculate site strength. They further examine genomic parameters regulating site usage and reveal genetic variants altering polyA activity.
- Emily Kunce Stroup
- & Zhe Ji
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Article
| Open AccessHofbauer cell function in the term placenta associates with adult cardiovascular and depressive outcomes
Placental inflammation is sometimes associated with health outcomes later in life. Here, the authors find that expression of genes associated with the homeostatic function of Hofbauer cells, a placenta-specific macrophage, are associated with protection from adult cardiovascular and depressive disorders
- Eamon Fitzgerald
- , Mojun Shen
- & Michael J. Meaney
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Article
| Open AccessSingle amino acid change alters specificity of the multi-allelic wheat stem rust resistance locus SR9
Among all wheat rust resistance genes, SR9 has the largest number of alleles. Here, the authors use gene cloning, complementation and comparative genetics to resolve the relationship among Sr9 alleles, confirm their allelic identities, and show that a single amino acid change leads to resistance to Ug99.
- Jianping Zhang
- , Jayaveeramuthu Nirmala
- & Evans Lagudah
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Article
| Open AccessBacteria can maintain rRNA operons solely on plasmids for hundreds of millions of years
Bacteria usually have at least one rRNA operon on the chromosome, suggesting that the exclusive presence of rRNA operons on a plasmid is rare and unlikely to be stably maintained. Here, Anda et al. find that at least four bacterial clades in different phyla lost their chromosomal rRNA operons independently, and one of the clades has maintained this peculiar genome organization for hundreds of millions of years.
- Mizue Anda
- , Shun Yamanouchi
- & Wataru Iwasaki
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Article
| Open AccessCopy number variation of the restorer Rf4 underlies human selection of three-line hybrid rice breeding
Ctyoplasmic male sterility gene WA352 and its fertility restorer Rf4 are widely used for commercial three-line hybrid rice production. Here, the authors investigate the origin, evolution, and variation of Rf4, and show that copy number variation of Rf4 contributes of fertility restoration in a dosage-dependent manner.
- Zhe Zhao
- , Zhi Ding
- & Letian Chen
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Article
| Open AccessA large meta-analysis identifies genes associated with anterior uveitis
Anterior Uveitis is a common inflammatory eye disease that can result in vision loss. Here, the authors perform GWAS and whole-exome analyses of Anterior Uveitis to identify the underlying genetics of HLA-B*27 positive and negative forms of the disease.
- Sahar Gelfman
- , Arden Moscati
- & Giovanni Coppola
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Article
| Open AccessLung SORT LNPs enable precise homology-directed repair mediated CRISPR/Cas genome correction in cystic fibrosis models
Roughly 10% of Cystic Fibrosis (CF) patients still have no effective medicine to take. Lung Selective Organ Targeting (SORT) Lipid Nanoparticles can efficiently deliver Cas9 mRNA, sgRNA, and donor ssDNA templates for precise homology-directed repair-mediated gene correction in ex vivo and in vivo CF models.
- Tuo Wei
- , Yehui Sun
- & Daniel J. Siegwart
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Article
| Open AccessLeveraging information between multiple population groups and traits improves fine-mapping resolution
Statistical fine-mapping helps to pinpoint likely causal variants underlying genetic association signals, and can be enhanced by using multi-ancestry datasets. Here, the authors introduce MGflashfm, a fine-mapping method for pinpointing likely causal variants amongst multiple traits and population groups.
- Feng Zhou
- , Opeyemi Soremekun
- & Jennifer L. Asimit
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Article
| Open AccessMalaria surveillance reveals parasite relatedness, signatures of selection, and correlates of transmission across Senegal
Senegal has initiated a national sentinel surveillance program for malaria parasite genetics. Here, the authors report data from the first year of the program and use it to investigate local malaria incidence, patterns of transmission, and genetic loci under selection.
- Stephen F. Schaffner
- , Aida Badiane
- & Sarah K. Volkman
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Article
| Open AccessEASTR: Identifying and eliminating systematic alignment errors in multi-exon genes
The study reveals limitations in widely used RNA-seq aligners, which create 'phantom' introns in reference databases. The authors introduce EASTR, a computational tool that not only enhances alignment accuracy but also uncovers existing annotation errors. This improvement bolsters the dependability of subsequent RNA-seq analyses.
- Ida Shinder
- , Richard Hu
- & Mihaela Pertea
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Article
| Open AccessThe transcriptional legacy of developmental stochasticity
Minor perturbations or noise can significantly impact development but are difficult to assess. Here, the authors detail allelic expression imbalance across the development of nine-banded armadillos that indicate stochastic developmental canalization.
- Sara Ballouz
- , Risa Karakida Kawaguchi
- & Jesse Gillis
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Article
| Open AccessRelease of Histone H3K4-reading transcription factors from chromosomes in mitosis is independent of adjacent H3 phosphorylation
Methyl-phos switches on histones have been shown to regulate reader protein displacement from chromatin. However, in this study the authors find that H3T3ph is not required to remove transcription factors from H3K4me3 in mitosis. This might help to preserve promoter properties during cell division.
- Rebecca J. Harris
- , Maninder Heer
- & Jonathan M. G. Higgins
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Article
| Open AccessTDP1 suppresses chromosomal translocations and cell death induced by abortive TOP1 activity during gene transcription
Tyrosyl-DNA phosphodiesterase 1 (TDP1) repairs single strand breaks (SSBs) generated by DNA topoisomerase I (TOP1). Here the authors show that TDP1 also repairs TOP1-induced double strand breaks (DSBs).
- Diana Rubio-Contreras
- & Fernando Gómez-Herreros
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Article
| Open AccessSpeos: an ensemble graph representation learning framework to predict core gene candidates for complex diseases
Understanding phenotype-genotype relationships is a grand challenge of current biological research. Here, the authors use graph representation learning to identify human genes which display key characteristics of core genes for five complex diseases.
- Florin Ratajczak
- , Mitchell Joblin
- & Matthias Heinig
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Article
| Open AccessUnzipped chromosome-level genomes reveal allopolyploid nematode origin pattern as unreduced gamete hybridization
The occurrence and consequences of polyploidization in clonally reproducing animals is unclear. Here, the authors generate 4 polyploid Meloidogyne genomes, identifying a telomeric element, resolving genome structures and extensive chromosome fusion events, and revealing origin patterns.
- Dadong Dai
- , Chuanshuai Xie
- & Ming Sun
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Article
| Open AccessUnappreciated subcontinental admixture in Europeans and European Americans and implications for genetic epidemiology studies
European ancestry individuals are not typically treated as admixed in genetic studies. Here, the authors detect higher than expected admixture in European populations, which could potentially affect the results of genetic studies if it is not accounted for.
- Mateus H. Gouveia
- , Amy R. Bentley
- & Daniel Shriner
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Article
| Open AccessHOP1 and HAP2 are conserved components of the meiosis-related machinery required for successful mating in Leishmania
Genetic exchange has been experimentally demonstrated for Leishmania during sand fly development, indicating a meiotic mechanism. Here the authors show that meiosis-related genes HOP1 and HAP2-2 are essential for Leishmania hybridization in vitro and in sand flies and that their deletion in one or both parents hinders mating competence.
- Carolina Moura Costa Catta-Preta
- , Tiago Rodrigues Ferreira
- & David Sacks
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Article
| Open AccessFunctional dissection of PRC1 subunits RYBP and YAF2 during neural differentiation of embryonic stem cells
RYBP and YAF2 are a pair of paralog subunits of variant PRC1. Here, authors show that RYBP decrease but YAF2 increase during mESC neural differentiation, and that they are not redundant but function differentially in regulating this differentiation.
- Yanjiang Liu
- , Gongcheng Hu
- & Hongjie Yao
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