A5067625733- RNA modifications and cancer
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Cancer-related molecular mechanisms research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Circular RNAs in diseases
- Genomics and Phylogenetic Studies
- Sperm and Testicular Function
- MicroRNA in disease regulation
- Renal and related cancers
- Sexual Differentiation and Disorders
- RNA Interference and Gene Delivery
- PI3K/AKT/mTOR signaling in cancer
- Cellular transport and secretion
- Hormonal Regulation and Hypertension
- Hormonal and reproductive studies
- Chromosomal and Genetic Variations
- Ubiquitin and proteasome pathways
- Animal Genetics and Reproduction
- Epigenetics and DNA Methylation
- Urologic and reproductive health conditions
- Extracellular vesicles in disease
- Mycobacterium research and diagnosis
- DNA Repair Mechanisms
- Molecular Biology Techniques and Applications
Institute of Human Genetics
2009-2025
Polish Academy of Sciences
2009-2025
University of Colorado Denver
2020-2025
University of Colorado Anschutz Medical Campus
2024
University of Pennsylvania
2024
Adam Mickiewicz University in Poznań
2021
Rockefeller University
2016-2018
Howard Hughes Medical Institute
2016-2018
RNA-binding proteins (RBPs) control and coordinate each stage in the life cycle of RNAs. Although vivo binding sites RBPs can now be determined genome-wide, most studies typically focused on individual RBPs. Here, we examined a large compendium 114 high-quality transcriptome-wide RBP–RNA cross-linking interaction datasets generated by same protocol cell line representing 64 distinct Comparative analysis categories target RNA preference, sequence transcript region specificity was performed,...
<h3>Background</h3> The <i>Nanos</i> gene is a key translational regulator of specific mRNAs involved in <i>Drosophila</i> germ cell development. Disruption mammalian homologues, <i>Nanos2</i> or <i>Nanos3</i>, causes male infertility mice. In humans, however, no evidence <i>NANOS2</i> <i>NANOS3</i> mutations causing has been reported. Although <i>Nanos1</i> seems dispensable for mouse reproduction, we sought to analyse the first time its homologue infertile men. <h3>Methods</h3> A group 195...
The highly conserved Nanos gene was found to encode a translational repressor necessary for germ-cell development in lower organisms. mammalian homologue, Nanos2, recently be expressed the mouse germ cells. Since its disruption caused infertility exclusively males, we sought study significance of this human male reproduction. Here, describe first time expression pattern NANOS2 tissues and show that it is testis specific. We protein present prenatal cells at later stages spermatogenesis. To...
// Damian Mikolaj Janecki 1 , Marcin Sajek Maciej Jerzy Smialek Kotecki 1, 2 Barbara Ginter-Matuszewska Bogna Kuczynska Anna Spik Tomasz Kolanowski 3 Riko Kitazawa 4 Kurpisz and Jadwiga Jaruzelska Institute of Human Genetics, Polish Academy Sciences, Poznan, Poland Department Developmental, Molecular Chemical Biology, Tufts University Medical School, Boston, Massachusetts, U.S.A. Pharmacology Toxicology, Technische Universität Dresden, Germany Division Pathology, Ehime University, Graduate...
tRNAs have been widely studied for their role as genetic code decoders in the ribosome during translation, but recently received new attention due to discovery of novel roles beyond decoding, often connection with human diseases. Yet, existing tRNA databases not updated more than a decade, so they do contain this functional information and kept pace rate field. Therefore, regularly database that contains about newly discovered characteristics molecules can be is strongly needed. Here, we...
ABSTRACT Nonsense variants underlie many genetic diseases. The phenotypic impact of nonsense is determined by nonsense-mediated mRNA decay (NMD), which degrades transcripts with premature termination codons (PTCs). Despite its clinical importance, the factors controlling transcript-specific and context-dependent variation in NMD activity remain poorly understood. Through analysis human datasets, we discovered that amino acid preceding PTC strongly influences activity. Notably, glycine...
Signaling through the platelet-derived growth factor receptor alpha (PDGFRα) plays a critical role in craniofacial development. Phosphatidylinositol 3-kinase (PI3K)/Akt is primary effector of PDGFRα signaling during mouse skeletal We previously demonstrated that Akt phosphorylates RNA-binding protein serine/arginine-rich splicing 3 (Srsf3) downstream PI3K-mediated embryonic palatal mesenchyme (MEPM) cells, leading to its nuclear translocation. further showed ablation Srsf3 murine neural...
Nanos RNA-binding proteins are critical factors of germline development throughout the animal kingdom and their dysfunction causes infertility. During evolution, mammalian paralogues adopted divergent roles in germ cell biology. However, molecular basis behind this divergence, such as target mRNAs, remains poorly understood. Our RNA-sequencing analysis a human primordial model-TCam-2 line revealed distinct pools genes involved cycle process downregulated upon NANOS1 NANOS3 overexpression. We...
ABSTRACT Transfer RNAs (tRNA) are decorated during biogenesis with a variety of modifications that modulate their stability, aminoacylation, and decoding potential translation. The complex landscape tRNA modification presents significant analysis challenges to date no single approach enables the simultaneous measurement important but disparate chemical properties individual, mature molecules. We developed new, integrated analyze sequence, modification, aminoacylation state molecules in high...
A new mechanism of RNA circularization driven by specific binding miRNAs is described. We identified the 71 CUUCC pentanucleotide motifs distributed regularly throughout entire molecule CDR1as that bind to through their seed sequence GGAAG. The sequential miR-7 RNAs (71 molecules) brings both ends (1 molecule) together and stimulate phosphodiester bond formation between nucleotides C1 A1299 at 5' 3' end, respectively. results in unique complex formation, which shows three structural domains:...
In recent years, growing evidence demonstrates that mammalian Nanos RNA-binding proteins (Nanos1, Nanos2, and Nanos3), known for their indispensable roles in germline development, are overexpressed a variety of cancers. This overexpression contributes to various oncogenic properties including cancer growth, invasiveness, metastasis. Here, we highlight findings regarding the role mechanisms cancer. addition, present expression profiles human NANOS genes transcriptional regulators obtained...
Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations routine approach AIS diagnosis. However, some patients lack mutations, which complicates the Here, we describe patient suffering from partial (PAIS) and lacking The whole exome sequencing of his family members identified heterozygous FKBP4 mutation, c.956T>C (p.Leu319Pro), inherited mother. encodes...
RNA-binding proteins (RBPs) are key regulators of gene expression. Small molecules targeting these RBP–RNA interactions a rapidly emerging class therapeutics for treating variety diseases. Ro-08-2750 (Ro) is small molecule identified as competitive inhibitor Musashi (MSI)–RNA interactions. Here, we show that multiple Ro-dependent cellular phenotypes, specifically adrenocortical steroid production and cell viability, Musashi-2 (MSI2)-independent. Using an unbiased proteome-wide approach,...
Mammalian Pumilio (PUM) proteins are sequence-specific, RNA-binding (RBPs) with wide-ranging roles. They involved in germ cell development, which has functional implications development and fertility. Although human PUM1 PUM2 closely related to each other recognize the same RNA binding motif, there is some evidence for diversity. To address that problem, first we used RIP-Seq RNA-Seq approaches, identified mRNA pools regulated by TCam-2 line, a male model. Second, applying global mass...
While two mouse NANOS paralogues, NANOS2 and NANOS3, are crucial for maintenance of germ cells by suppression apoptosis, the NANOS1 paralogue does not seem to regulate these processes. Previously, we described a human p.[(Pro34Thr);(Ser83del)] mutation associated with absence in seminiferous tubules infertile patients, which might suggest an anti-apoptotic role NANOS1. In this study, aimed determine potential influence on TCam-2 model investigating proliferation, cell cycle, apoptosis....
Regulation of proliferation, apoptosis and cell cycle is crucial for the physiology germ cells. Their malfunction contributes to infertility tumours. The kinesin KIF18A an important regulator those processes in animal Post-transcriptional regulation has not been extensively explored. Owing presence PUM-binding elements (PBEs), mRNA a potential target PUM proteins, where refers Pumilio RNA-binding proteins that act post-transcriptional gene regulation. We conducted RNA co-immunoprecipitation...
RNA-binding proteins (RBPs) control and coordinate each stage in the life cycle of RNAs. Although vivo binding sites RBPs can now be determined genome-wide, most studies typically focused on individual RBPs. Here, we examined a large compendium 114 high-quality transcriptome-wide RBP-RNA cross-linking interaction datasets generated by same protocol cell line representing 64 distinct Comparative analysis categories target RNA preference, sequence transcript region specificity was performed,...
Signaling through the platelet-derived growth factor receptor alpha (PDGFRa) plays a critical role in craniofacial development, as mutations
Signaling through the platelet-derived growth factor receptor alpha (PDGFRα) plays a critical role in craniofacial development, as mutations PDGFRA are associated with cleft lip/palate humans and Pdgfra mutant mouse models display varying degrees of facial clefting. Phosphatidylinositol 3-kinase (PI3K)/Akt is primary effector PDGFRα signaling during skeletal development mouse. We previously demonstrated that Akt phosphorylates RNA-binding protein serine/arginine-rich splicing 3 (Srsf3)...