Deletions of singular U1 snRNA gene significantly interfere with transcription and 3 ’-end mRNA formation
This study demonstrates that all five U1-genes inDrosophila have physiological functions in development and play regulatory roles in transcription and 3 ’-end formation. (Source: PLoS Genetics)
Source: PLoS Genetics - November 2, 2023 Category: Genetics & Stem Cells Authors: Mei Wang Source Type: research
A disease associated mutant reveals how Ltv1 orchestrates RP assembly and rRNA folding of the small ribosomal subunit head
by Ebba K. Blomqvist, Haina Huang, Katrin Karbstein
Ribosomes are complex macromolecules assembled from 4 rRNAs and 79 ribosomal proteins (RPs). Their assembly is organized in a highly hierarchical manner, which is thought to avoid dead-end pathways, thereby enabling efficient assembly of ribosomes in the large quantities needed for healthy cellular growth. Moreover, hierarchical assembly also can help ensure that each RP is included in the mature ribosome. Nonetheless, how this hierarchy is achieved remains unknown, beyond the examples that depend on direct RP-RP interactions, which account for only a fraction of the obs...
Source: PLoS Genetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Ebba K. Blomqvist Source Type: research
The G protein alpha chaperone and guanine-nucleotide exchange factor RIC-8 regulates cilia morphogenesis in < i > Caenorhabditis elegans < /i > sensory neurons
by Christina M. Campagna, Hayley McMahon, Inna Nechipurenko
Heterotrimeric G ( αβγ) proteins are canonical transducers of G-protein-coupled receptor (GPCR) signaling and play critical roles in communication between cells and their environment. Many GPCRs and heterotrimeric G proteins localize to primary cilia and modulate cilia morphology via mechanisms that are not well un derstood. Here, we show that RIC-8, a cytosolic guanine nucleotide exchange factor (GEF) and chaperone for Gα protein subunits, shapes cilia membrane morphology in a subset ofCaenorhabditis elegans sensory neurons. Consistent with its role in cilio...
Source: PLoS Genetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Christina M. Campagna Source Type: research
Genome-wide census of ATF4 binding sites and functional profiling of trait-associated genetic variants overlapping ATF4 binding motifs
by Tiit Örd, Daima Örd, Priit Adler, Tõnis Örd
Activating Transcription Factor 4 (ATF4) is an important regulator of gene expression in stress responses and developmental processes in many cell types. Here, we catalogued ATF4 binding sites in the human genome and identified overlaps with trait-associated genetic variants. We probed these genetic variants for allelic regulatory activity using a massively parallel reporter assay (MPRA) in HepG2 hepatoma cells exposed to tunicamycin to induce endoplasmic reticulum stress and ATF4 upregulation. The results revealed that in the majority of cases, the MPRA allelic activity ...
Source: PLoS Genetics - October 31, 2023 Category: Genetics & Stem Cells Authors: Tiit Örd Source Type: research
The pleiotropic functions of Pri smORF peptides synchronize leg development regulators
by Damien Markus, Aurore Pelletier, Muriel Boube, Fillip Port, Michael Boutros, Fran çois Payre, Benedikt Obermayer, Jennifer Zanet
The last decade witnesses the emergence of the abundant family of smORF peptides, encoded by small ORF ( (Source: PLoS Genetics)
Source: PLoS Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: Damien Markus Source Type: research
A protease and a lipoprotein jointly modulate the conserved ExoR-ExoS-ChvI signaling pathway critical in < i > Sinorhizobium meliloti < /i > for symbiosis with legume hosts
by Julian A. Bustamante, Josue S. Ceron, Ivan Thomas Gao, Hector A. Ramirez, Milo V. Aviles, Demsin Bet Adam, Jason R. Brice, Rodrigo Cuellar, Eva Dockery, Miguel Karlo Jabagat, Donna Grace Karp, Joseph Kin-On Lau, Suling Li, Raymondo Lopez-Maga ña, Rebecca R. Moore, Bethany Kristi R. Morin, Juliana Nzongo, Yasha Rezaeihaghighi, Joseph Sapienza-Martinez, Tuyet Thi Kim Tran, Zhenzhong Huang, Aaron J. Duthoy, Melanie J. Barnett, Sharon R. Long, Joseph C. ChenSinorhizobium meliloti is a model alpha-proteobacterium for investigating microbe-host interactions, in particular nitrogen-fixing rhizobium-legume symbioses. Successfu...
Source: PLoS Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Julian A. Bustamante Source Type: research
Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci
by Anu Pasanen, Minna K. Karjalainen, FinnGen , Ge Zhang, Heli Tiensuu, Antti M. Haapalainen, Marja Ojaniemi, Bjarke Feenstra, Bo Jacobsson, Aarno Palotie, Hannele Laivuori, Louis J. Muglia, Mika R ämet, Mikko Hallman
BackgroundPreterm birth ( (Source: PLoS Genetics)
Source: PLoS Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Anu Pasanen Source Type: research
A novel proneural function of asense is integrated with the sequential actions of Delta-Notch, L ’sc and Su(H) to promote the neuroepithelial to neuroblast transition
by Mercedes Martin, Francisco Gutierrez-Avino, Mirja N. Shaikh, Francisco J. Tejedor
In order for neural progenitors (NPs) to generate distinct populations of neurons at the right time and place during CNS development, they must switch from undergoing purely proliferative, self-renewing divisions to neurogenic, asymmetric divisions in a tightly regulated manner. In the developingDrosophila optic lobe, neuroepithelial (NE) cells of the outer proliferation center (OPC) are progressively transformed into neurogenic NPs called neuroblasts (NBs) in a medial to lateral proneural wave. The cells undergoing this transition expres...
Source: PLoS Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Mercedes Martin Source Type: research
Precision pharmacological reversal of strain-specific diet-induced metabolic syndrome in mice informed by epigenetic and transcriptional regulation
by Phillip Wulfridge, Adam Davidovich, Anna C. Salvador, Gabrielle C. Manno, Rakel Tryggvadottir, Adrian Idrizi, M. Nazmul Huda, Brian J. Bennett, L. Garry Adams, Kasper D. Hansen, David W. Threadgill, Andrew P. Feinberg
Diet-related metabolic syndrome is the largest contributor to adverse health in the United States. However, the study of gene-environment interactions and their epigenomic and transcriptomic integration is complicated by the lack of environmental and genetic control in humans that is possible in mouse models. Here we exposed three mouse strains, C57BL/6J (BL6), A/J, and NOD/ShiLtJ (NOD), to a high-fat, hi...
Source: PLoS Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Phillip Wulfridge Source Type: research
< i > Wolbachia < /i > infection at least partially rescues the fertility and ovary defects of several new < i > Drosophila melanogaster bag of marbles < /i > protein-coding mutants
by Miwa Wenzel, Charles F. Aquadro
TheD.melanogaster protein coding genebag of marbles (bam) plays a key role in early male and female reproduction by forming complexes with partner proteins to promote differentiation in gametogenesis. Like another germline gene,Sex lethal,bam genetically interacts with the endosymbiontWolbachia, asWolbachia rescues the reduced fertility of abam hypomorphic mutant. Here, we explored the specificity of thebam-Wolbachia interaction by generating 22 newbam mutants, with ten mutants displaying fertility defects. Nine of these mutants trend towards rescue by thewMelWolbachia variant, with eigh...
Source: PLoS Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Miwa Wenzel Source Type: research
An allelic series at the < i > EDNRB2 < /i > locus controls diverse piebalding patterns in the domestic pigeon
by Emily T. Maclary, Ryan Wauer, Bridget Phillips, Audrey Brown, Elena F. Boer, Atoosa M. Samani, Michael D. Shapiro
Variation in pigment patterns within and among vertebrate species reflects underlying changes in cell migration and function that can impact health, reproductive success, and survival. The domestic pigeon (Columba livia) is an exceptional model for understanding the genetic changes that give rise to diverse pigment patterns, as selective breeding has given rise to hundreds of breeds with extensive variation in plumage color and pattern. Here, we map the genetic architecture of a suite of pigmentation phenot...
Source: PLoS Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Emily T. Maclary Source Type: research
SMASH: Scalable Method for Analyzing Spatial Heterogeneity of genes in spatial transcriptomics data
by Souvik Seal, Benjamin G. Bitler, Debashis Ghosh
In high-throughput spatial transcriptomics (ST) studies, it is of great interest to identify the genes whose level of expression in a tissue covaries with the spatial location of cells/spots. Such genes, also known as spatially variable genes (SVGs), can be crucial to the biological understanding of both structural and functional characteristics of complex tissues. Existing methods for detecting SVGs either suffer from huge computational demand or significantly lack statistical power. We propose a non-parametric method termed SMASH that achieves a balance between the abov...
Source: PLoS Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Souvik Seal Source Type: research
The parenting hub of the hypothalamus is a focus of imprinted gene action
by Matthew J. Higgs, Anna E. Webberley, Alasdair J. Allan, Moaz Talat, Rosalind M. John, Anthony R. Isles
Imprinted genes are subject to germline epigenetic modification resulting in parental-specific allelic silencing. Although genomic imprinting is thought to be important for maternal behaviour, this idea is based on serendipitous findings from a small number of imprinted genes. Here, we undertook an unbiased systems biology approach, taking advantage of the recent delineation of specific neuronal populations responsible for controlling parental care, to test whether imprinted genes significantly converge to regulate pa...
Source: PLoS Genetics - October 19, 2023 Category: Genetics & Stem Cells Authors: Matthew J. Higgs Source Type: research
Genome-wide analysis of horizontal transfer in non-model wild species from a natural ecosystem reveals new insights into genetic exchange in plants
This study revealed a possible new route for HTs between non-parasitic plants and provides new insights into the genomic characteristics of horizontally transferred DNA in plant genomes. (Source: PLoS Genetics)
Source: PLoS Genetics - October 19, 2023 Category: Genetics & Stem Cells Authors: Emilie Aubin Source Type: research
Cross-feeding affects the target of resistance evolution to an antifungal drug
We describe conditions in which mutations affecting this particular step of the metabolic pathway are favored over known resistance mutations affecting a step upstream, such as the well-known target cytosine deaminase encoded byFCY1. This observation suggests that ecological interactions may dictate the identity of resistance hotspots. (Source: PLoS Genetics)
Source: PLoS Genetics - October 19, 2023 Category: Genetics & Stem Cells Authors: Romain Durand Source Type: research
