keyword
https://read.qxmd.com/read/38443608/5g2-mutant-mice-model-loss-of-a-commonly-deleted-segment-of-chromosome-7q22-in-myeloid-malignancies
#21
JOURNAL ARTICLE
Jasmine C Wong, Kelley M Weinfurtner, Tamara Westover, Jangkyung Kim, Eric J Lebish, Maria Del Pilar Alzamora, Benjamin J Huang, Michael Walsh, Sherif Abdelhamed, Jing Ma, Jeffery M Klco, Kevin Shannon
Monosomy 7 and del(7q) are among the most common and poorly understood genetic alterations in myelodysplastic neoplasms and acute myeloid leukemia. Chromosome band 7q22 is a minimally deleted segment in myeloid malignancies with a del(7q). However, the rarity of "second hit" mutations supports the idea that del(7q22) represents a contiguous gene syndrome. We generated mice harboring a 1.5 Mb germline deletion of chromosome band 5G2 syntenic to human 7q22 that removes Cux1 and 27 additional genes. Hematopoiesis is perturbed in 5G2+/del mice but they do not spontaneously develop hematologic disease...
March 5, 2024: Leukemia
https://read.qxmd.com/read/38433229/max-controls-meiotic-entry-in-sexually-undifferentiated-germ-cells
#22
JOURNAL ARTICLE
Ayumu Suzuki, Kousuke Uranishi, Masazumi Nishimoto, Yosuke Mizuno, Seiya Mizuno, Satoru Takahashi, Robert N Eisenman, Akihiko Okuda
Meiosis is a specialized type of cell division that occurs physiologically only in germ cells. We previously demonstrated that MYC-associated factor X (MAX) blocks the ectopic onset of meiosis in embryonic and germline stem cells in culture systems. Here, we investigated the Max gene's role in mouse primordial germ cells. Although Max is generally ubiquitously expressed, we revealed that sexually undifferentiated male and female germ cells had abundant MAX protein because of their higher Max gene expression than somatic cells...
March 4, 2024: Scientific Reports
https://read.qxmd.com/read/38429579/phf6-mediated-transcriptional-control-of-nsc-via-ephrin-receptors-is-impaired-in-the-intellectual-disability-syndrome-bfls
#23
JOURNAL ARTICLE
Dilan Rasool, Audrey Burban, Ahmad Sharanek, Ariel Madrigal, Jinghua Hu, Keqin Yan, Dianbo Qu, Anne K Voss, Ruth S Slack, Tim Thomas, Azad Bonni, David J Picketts, Vahab D Soleimani, Hamed S Najafabadi, Arezu Jahani-Asl
The plant homeodomain zinc-finger protein, PHF6, is a transcriptional regulator, and PHF6 germline mutations cause the X-linked intellectual disability (XLID) Börjeson-Forssman-Lehmann syndrome (BFLS). The mechanisms by which PHF6 regulates transcription and how its mutations cause BFLS remain poorly characterized. Here, we show genome-wide binding of PHF6 in the developing cortex in the vicinity of genes involved in central nervous system development and neurogenesis. Characterization of BFLS mice harbouring PHF6 patient mutations reveals an increase in embryonic neural stem cell (eNSC) self-renewal and a reduction of neural progenitors...
March 1, 2024: EMBO Reports
https://read.qxmd.com/read/38427913/cop9-signalosome-component-csn-5-stabilizes-puf-proteins-fbf-1-and-fbf-2-in-caenorhabditis-elegans-germline-stem-and-progenitor-cells
#24
JOURNAL ARTICLE
Emily Osterli, Mary Ellenbecker, Xiaobo Wang, Mikaya Terzo, Ketch Jacobson, DeAnna Cuello, Ekaterina Voronina
RNA-binding proteins FBF-1 and FBF-2 (FBFs) are required for germline stem cell maintenance and the sperm/oocyte switch in Caenorhabditis elegans, though the mechanisms controlling FBF protein levels remain unknown. We identified an interaction between both FBFs and CSN-5, a component of the COP9 (constitutive photomorphogenesis 9) signalosome best known for its role in regulating protein degradation. Here, we find that the Mpr1/Pad1 N-terminal metalloprotease domain of CSN-5 interacts with the Pumilio and FBF RNA-binding domain of FBFs and the interaction is conserved for human homologs CSN5 and PUM1...
March 1, 2024: Genetics
https://read.qxmd.com/read/38427608/effects-of-trigonelline-diosgenin-and-cistanche-deserticola-polysaccharide-on-the-culture-of-female-germline-stem-cells-in-vitro
#25
JOURNAL ARTICLE
Xiaoli Yu, Yikai Qiu, Jinhua Li, Yanping Zhang, Qian Wang, Zehua Jin, Xinrui Liu, Xiuying Pei
Female germline stem cells (FGSCs) are renewable sources of oocytes that play an indispensable role in re-establishing mammal fertility. Here, we have established FGSCs from neonatal mice, which exhibit characteristics of germline stem cells. We show that compared with monomeric trigonelline and diosgenin, macromolecular compounds Cistanche deserticola polysaccharides (CDPs) in Chinese herbal medicine can enhance the ability of FGSCs to differentiate into oocytes at appropriate concentrations while maintaining self-renewal in vitro ...
March 1, 2024: Natural Product Research
https://read.qxmd.com/read/38424413/first-report-of-familial-mixed-phenotype-acute-leukemia-shared-clinical-characteristics-philadelphia-translocation-and-germline-variants
#26
JOURNAL ARTICLE
Yuka Shiozawa, Shinya Fujita, Yasuhito Nannya, Seishi Ogawa, Naho Nomura, Toru Kiguchi, Nobuo Sezaki, Himari Kudo, Takaaki Toyama
While our understanding of the molecular basis of mixed phenotype acute leukemia (MPAL) has progressed over the decades, our knowledge is limited and the prognosis remains poor. Investigating cases of familial leukemia can provide insights into the role of genetic and environmental factors in leukemogenesis. Although familial cases and associated mutations have been identified in some leukemias, familial occurrence of MPAL has never been reported. Here, we report the first cases of MPAL in a family. A 68-year-old woman was diagnosed with MPAL and received haploidentical stem cell transplantation from her 44-year-old son...
February 29, 2024: International Journal of Hematology
https://read.qxmd.com/read/38423203/ras-mapk-signaling-mediates-adipose-tissue-control-of-ovarian-germline-survival-and-ovulation-in-drosophila-melanogaster
#27
JOURNAL ARTICLE
Tancia Bradshaw, Chad Simmons, Rachael Ott, Alissa Richmond Armstrong
From insects to humans, oogenesis is tightly linked to nutritional input, yet little is known about how whole organism physiology matches dietary changes with oocyte development. Considering that diet-induced adipose tissue dysfunction is associated with an increased risk for fertility problems, and other obesity-associated pathophysiologies, it is critical to decipher the cellular and molecular mechanisms linking adipose nutrient sensing to remote control of the ovary and other tissues. Our previous studies in Drosophila melanogaster have shown that amino acid sensing, via the amino acid response pathway and mTOR-mediated signaling function within adipocytes to control germline stem cell maintenance and ovulation, respectively...
February 27, 2024: Developmental Biology
https://read.qxmd.com/read/38422019/pathogenic-gata2-genetic-variants-utilize-an-obligate-enhancer-mechanism-to-distort-a-multilineage-differentiation-program
#28
JOURNAL ARTICLE
Koichi R Katsumura, Peng Liu, Jeong-Ah Kim, Charu Mehta, Emery H Bresnick
Mutations in genes encoding transcription factors inactivate or generate ectopic activities to instigate pathogenesis. By disrupting hematopoietic stem/progenitor cells, GATA2 germline variants create a bone marrow failure and leukemia predisposition, GATA2 deficiency syndrome, yet mechanisms underlying the complex phenotypic constellation are unresolved. We used a GATA2-deficient progenitor rescue system to analyze how genetic variation influences GATA2 functions. Pathogenic variants impaired, without abrogating, GATA2-dependent transcriptional regulation...
March 5, 2024: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/38421640/optimized-protocols-for-rna-interference-in-macrostomum-lignano
#29
JOURNAL ARTICLE
Stijn Mouton, Alexandra Mougel, Kirill Ustyantsev, Colette Dissous, Oleg Melnyk, Eugene Berezikov, Jérôme Vicogne
Macrostomum lignano, a marine free-living flatworm, has emerged as a potent invertebrate model in developmental biology for studying stem cells, germline, and regeneration processes. In recent years, many tools have been developed to manipulate this worm and to facilitate genetic modification. RNA interference is currently the most accessible and direct technique to investigate gene functions. It is obtained by soaking worms in artificial seawater containing dsRNA targeting the gene of interest. Although easy to perform, the original protocol calls for daily exchange of dsRNA solutions, usually until phenotypes are observed, which is both time- and cost-consuming...
February 29, 2024: G3: Genes—Genomes—Genetics
https://read.qxmd.com/read/38415356/-hras-mutant-cardiomyocyte-model-of-multifocal-atrial-tachycardia
#30
JOURNAL ARTICLE
Nelson A Rodríguez, Nihir Patel, Rafael Dariolli, Simon Ng, Angelika G Aleman, Jingqi Q X Gong, Hung-Mo Lin, Matthew Rodríguez, Rebecca Josowitz, Katia Sol-Church, Karen W Gripp, Xianming Lin, Soomin C Song, Glenn I Fishman, Eric A Sobie, Bruce D Gelb
BACKGROUND: Germline HRAS gain-of-function pathogenic variants cause Costello syndrome (CS). During early childhood, 50% of patients develop multifocal atrial tachycardia, a treatment-resistant tachyarrhythmia of unknown pathogenesis. This study investigated how overactive HRAS activity triggers arrhythmogenesis in atrial-like cardiomyocytes (ACMs) derived from human-induced pluripotent stem cells bearing CS-associated HRAS variants. METHODS: HRAS Gly12 mutations were introduced into a human-induced pluripotent stem cells-ACM reporter line...
February 28, 2024: Circulation. Arrhythmia and Electrophysiology
https://read.qxmd.com/read/38410872/hematologic-malignancies-in-li-fraumeni-syndrome-a-case-report
#31
Bethany Bundrant, Yoheved Gerstein, Banu Arun, Courtney D DiNardo
Li-Fraumeni syndrome (LFS) is a rare syndrome characterized by an increased lifetime risk of cancer development in multiple organ systems, typically caused by de novo or inherited germline pathogenic variants in the tumor suppressor TP53 gene. LFS is more classically associated with solid tumors; however, it is also associated with hematologic malignancies such as therapy-related acute myeloid leukemia (AML). We present the case of a female patient with a strong family and personal history of cancer who presented to our institution with therapy-related AML with next-generation sequencing showing a pathogenic TP53 mutation...
February 27, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38410372/natural-killer-cells-affect-the-natural-course-drug-resistance-and-prognosis-of-multiple-myeloma
#32
REVIEW
Li Zhang, Xiaohuan Peng, Tao Ma, Jia Liu, Zhigang Yi, Jun Bai, Yanhong Li, Lijuan Li, Liansheng Zhang
Multiple myeloma (MM), a stage-developed plasma cell malignancy, evolves from monoclonal gammopathy of undetermined significance (MGUS) or smoldering MM (SMM). Emerging therapies including immunomodulatory drugs, proteasome inhibitors, monoclonal antibodies, chimeric antigen-T/natural killer (NK) cells, bispecific T-cell engagers, selective inhibitors of nuclear export, and small-molecule targeted therapy have considerably improved patient survival. However, MM remains incurable owing to inevitable drug resistance and post-relapse rapid progression...
2024: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/38410371/source-cell-type-epigenetic-memory-persists-in-induced-pluripotent-cells-but-is-lost-in-subsequently-derived-germline-cells
#33
JOURNAL ARTICLE
Yu-Huey Lin, Jake D Lehle, John R McCarrey
Introduction: Retention of source cell-type epigenetic memory may mitigate the potential for induced pluripotent stem cells (iPSCs) to fully achieve transitions in cell fate in vitro . While this may not preclude the use of iPSC-derived somatic cell types for therapeutic applications, it becomes a major concern impacting the potential use of iPSC-derived germline cell types for reproductive applications. The transition from a source somatic cell type to iPSCs and then on to germ-cell like cells (GCLCs) recapitulates two major epigenetic reprogramming events that normally occur during development in vivo -embryonic reprogramming in the epiblast and germline reprogramming in primordial germ cells (PGCs)...
2024: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/38405894/the-drosophila-histone-methyl-transferase-set1-coordinates-multiple-signaling-pathways-in-regulating-male-germline-stem-cell-maintenance-and-differentiation
#34
Velinda Vidaurre, Annabelle Song, Taibo Li, Wai Lim Ku, Keji Zhao, Jiang Qian, Xin Chen
Many cell types come from tissue-specific adult stem cells that maintain the balance between proliferation and differentiation. Here, we study how the H3K4me3 methyltransferase, Set1, regulates early-stage male germ cell proliferation and differentiation in Drosophila . Early-stage germline-specific knockdown of set1 results in a temporally progressed defects, arising as germ cell loss and developing to overpopulated early-stage germ cells. These germline defects also impact the niche architecture and cyst stem cell lineage in a non-cell-autonomous manner...
February 14, 2024: bioRxiv
https://read.qxmd.com/read/38405756/scalable-and-efficient-generation-of-mouse-primordial-germ-cell-like-cells
#35
Xinbao Ding, Liangdao Li, Jingyi Gao, Dain Yi, John C Schimenti
Primordial germ cells (PGCs) are the founder cells of the germline. The ability to generate PGC-like cells (PGCLCs) from pluripotent stem cells has advanced our knowledge of gametogenesis and holds promise for developing infertility treatments. However, generating an ample supply of PGCLCs for demanding applications such as high-throughput genetic screens has been a limitation. Here, we demonstrated that simultaneous overexpressing 4 transcriptional factors - Nanog and three PGC master regulators Prdm1 , Prdm14 and Tfap2c - in suspended mouse epiblast like cells (EpiLCs) and formative embryonic stem cells (ESCs) results in efficient and cost-effective production of PGCLCs...
February 15, 2024: bioRxiv
https://read.qxmd.com/read/38403804/genetic-profiling-of-azoospermic-men-to-identify-the-etiology-and-predict-reproductive-potential
#36
JOURNAL ARTICLE
Stephanie Cheung, Lily Ng, Philip Xie, Olena Kocur, Rony Elias, Peter Schlegel, Zev Rosenwaks, Gianpiero D Palermo
PURPOSE: To identify germline mutations related to azoospermia etiology and reproductive potential of surgically retrieved spermatozoa, and to investigate the feasibility of predicting seminiferous tubule function of nonobstructive azoospermic men by transcriptomic profiling of ejaculates. MATERIALS AND METHODS: Sperm specimens were obtained from 30 men (38.4 ± 6 years) undergoing epididymal sperm aspiration for obstructive azoospermia (OA, n = 19) acquired by vasectomy, or testicular biopsy for nonobstructive azoospermia (NOA, n = 11)...
February 26, 2024: Journal of Assisted Reproduction and Genetics
https://read.qxmd.com/read/38397181/exploring-the-micro-mosaic-landscape-of-fgfr3-mutations-in-the-ageing-male-germline-and-their-potential-implications-in-meiotic-differentiation
#37
JOURNAL ARTICLE
Yasmin Striedner, Barbara Arbeithuber, Sofia Moura, Elisabeth Nowak, Ronja Reinhardt, Leila Muresan, Renato Salazar, Thomas Ebner, Irene Tiemann-Boege
Advanced paternal age increases the risk of transmitting de novo germline mutations, particularly missense mutations activating the receptor tyrosine kinase (RTK) signalling pathway, as exemplified by the FGFR3 mutation, which is linked to achondroplasia (ACH). This risk is attributed to the expansion of spermatogonial stem cells carrying the mutation, forming sub-clonal clusters in the ageing testis, thereby increasing the frequency of mutant sperm and the number of affected offspring from older fathers. While prior studies proposed a correlation between sub-clonal cluster expansion in the testis and elevated mutant sperm production in older donors, limited data exist on the universality of this phenomenon...
January 30, 2024: Genes
https://read.qxmd.com/read/38396041/reconstructing-phylogenetic-trees-from-genome-wide-somatic-mutations-in-clonal-samples
#38
REVIEW
Tim H H Coorens, Michael Spencer Chapman, Nicholas Williams, Inigo Martincorena, Michael R Stratton, Jyoti Nangalia, Peter J Campbell
Phylogenetic trees are a powerful means to display the evolutionary history of species, pathogens and, more recently, individual cells of the human body. Whole-genome sequencing of laser capture microdissections or expanded stem cells has allowed the discovery of somatic mutations in clones, which can be used as natural barcodes to reconstruct the developmental history of individual cells. Here we describe Sequoia, our pipeline to reconstruct lineage trees from clones of normal cells. Candidate somatic mutations are called against the human reference genome and filtered to exclude germline mutations and artifactual variants...
February 23, 2024: Nature Protocols
https://read.qxmd.com/read/38395087/long-term-remission-of-infantile-takayasu-arteritis-associated-with-germline-cbl-syndrome-after-allogeneic-hematopoietic-stem-cell-transplantation-a-case-report-and-literature-review
#39
Elizabeth Munoz-Osores, Mervin Piñones, Francisco Barriga, María Angélica Wietstruck, Guillermo Pérez-Mateluna, Cecilia Mellado, Mariana Aracena, Rodrigo Parra, Cristián García, Arturo Borzutzky
Takayasu arteritis (TA) is a large-vessel vasculitis that rarely presents in infancy. Casitas B-lineage lymphoma (CBL) syndrome is a rare genetic disorder due to heterozygous CBL gene germline pathogenic variants that is characterized by a predisposition to develop juvenile myelomonocytic leukemia (JMML). Vasculitis, including TA, has been reported in several patients. Herein, we describe a patient with CBL syndrome, JMML, and TA, developing long-term remission of this vasculitis after allogeneic hematopoietic stem cell transplant (HSCT), and perform a literature review of CBL syndrome with vasculitis or vasculopathy...
February 22, 2024: Transplant Immunology
https://read.qxmd.com/read/38385617/mutational-patterns-in-therapy-related-acute-lymphoblastic-leukemia-subgroups-one-step-closer-to-unveiling-the-genetic-odyssey
#40
JOURNAL ARTICLE
Kevin D Hofer, Marco M Bühler, Marco Roncador, Markus Rechsteiner, Ewerton M Maggio, Joëlle Tchinda, Urs Schanz, Eugenia Haralambieva, Corinne C Widmer
There is increasing evidence that therapy-related acute lymphoblastic leukemia (trALL) resulting from chemo- and/or radiotherapy represents a distinct entity. However, apart from KMT2A rearrangements, which have been repeatedly reported in this subgroup, the relevance of other aberrations remains controversial due to divergent study results and sparse molecular analyses. Within our ALL patient cohort, 15% ( n  = 19/131) met the criteria for trALL with a high proportion of Ph + and KMT2A rearrangements...
February 22, 2024: Leukemia & Lymphoma
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