keyword
https://read.qxmd.com/read/38043677/young-human-alpha-synuclein-transgenic-bac-snca-mice-display-sex-and-gene-dose-dependent-phenotypic-disturbances
#21
JOURNAL ARTICLE
Sandra Moceri, Natascha Bäuerle, Johanna Habermeyer, Veronika Ratz-Wirsching, Julia Harrer, Jörg Distler, Anja Schulze-Krebs, Ivanna K Timotius, Alexandra Bluhm, Maike Hartlage-Rübsamen, Steffen Roßner, Jürgen Winkler, Wei Xiang, Stephan von Hörsten
Parkinson's disease (PD) is a common neurodegenerative movement disorder, characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta and the accumulation of aggregated alpha synuclein (aSyn). The disease often presents with early prodromal non-motor symptoms and later motor symptoms. Diagnosing PD based purely on motor symptoms is often too late for successful intervention, as a significant neuronal loss has already occurred. Furthermore, the lower prevalence of PD in females is not well understood, highlighting the need for a better understanding of the interaction between sex and aSyn, the crucial protein for PD pathogenesis...
December 1, 2023: Behavioural Brain Research
https://read.qxmd.com/read/38042483/exogenous-l-fucose-attenuates-neuroinflammation-induced-by-lipopolysaccharide
#22
JOURNAL ARTICLE
Xing Xu, Tomohiko Fukuda, Jun Takai, Sayaka Morii, Yuhan Sun, Jianwei Liu, Shiho Ohno, Tomoya Isaji, Yoshiki Yamaguchi, Miyako Nakano, Takashi Moriguchi, Jianguo Gu
α1,6-Fucosyltransferase (Fut8) catalyzes the transfer of fucose to the innermost N-acetylglucosamine residue of N-glycan to form core fucosylation. Our previous studies showed that lipopolysaccharide (LPS) treatment highly induced neuroinflammation in Fut8 homozygous knockout (Fut8-/- ) or heterozygous knockout (Fut8+/- ) mice, compared with the wide-type (Fut8+/+ ) mice. To understand the underlying mechanism, we utilized a sensitive inflammation-monitoring mouse system that contains the human interleukin-6 (hIL6) bacterial artificial chromosome (BAC) transgene modified with luciferase (Luc) reporter cassette...
November 30, 2023: Journal of Biological Chemistry
https://read.qxmd.com/read/37942479/cell-type-dependent-stability-and-virulence-of-a-recombinant-sars-cov-2-and-engineering-of-a-propagation-deficient-rna-replicon-to-analyze-virus-rna-synthesis
#23
JOURNAL ARTICLE
Li Wang, María Guzman, Diego Muñoz-Santos, Jose Manuel Honrubia, Jorge Ripoll-Gomez, Rafael Delgado, Isabel Sola, Luis Enjuanes, Sonia Zuñiga
Engineering of reverse genetics systems for newly emerged viruses allows viral genome manipulation, being an essential tool for the study of virus life cycle, virus-host interactions and pathogenesis, as well as for the development of effective antiviral strategies. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is an emergent human coronavirus that has caused the coronavirus disease (COVID-19) pandemic. The engineering of a full-length infectious cDNA clone and a fluorescent replicon of SARS-CoV-2 Wuhan-Hu-1, using a bacterial artificial chromosome, is reported...
2023: Frontiers in Cellular and Infection Microbiology
https://read.qxmd.com/read/37909742/the-variations-of-native-plasmids-greatly-affect-the-cell-surface-hydrophobicity-of-sphingomonads
#24
JOURNAL ARTICLE
Da Song, Xingjuan Chen, Hui Yao, Guannan Kong, Meiying Xu, Jun Guo, Guoping Sun
The organic pollutant-degrading microorganisms with high cell surface hydrophobicity (CSH) are generally favorable due to the positive role of high CSH in pollutant capture and cell colonization. Sphingomonads, an important bacterial group with metabolic versatility, have significant potential for biodegradation and bioremediation of organic pollutants and generally harbor higher CSH than typical Gram-negative bacteria. However, the molecular mechanisms underlying their high CSH are still unclear. In this study, Sphingobium xenophagum C1, the most hydrophobic sphingomonad ever known, and its hydrophilic variant C2 were used to identify the genome variations responsible for the CSH difference by comparative genome and transcriptome analysis, as well as gene knockout verification...
November 1, 2023: MSystems
https://read.qxmd.com/read/37896820/exploring-the-potential-of-cytomegalovirus-based-vectors-a-review
#25
REVIEW
Janine Zeng, Dabbu Kumar Jaijyan, Shaomin Yang, Shakai Pei, Qiyi Tang, Hua Zhu
Viral vectors have emerged as powerful tools for delivering and expressing foreign genes, playing a pivotal role in gene therapy. Among these vectors, cytomegalovirus (CMV) stands out as a promising viral vector due to its distinctive attributes including large packaging capacity, ability to achieve superinfection, broad host range, capacity to induce CD8+ T cell responses, lack of integration into the host genome, and other qualities that make it an appealing vector candidate. Engineered attenuated CMV strains such as Towne and AD169 that have a ~15 kb genomic DNA deletion caused by virus passage guarantee human safety...
October 2, 2023: Viruses
https://read.qxmd.com/read/37893932/genome-wide-identification-of-5-ht-receptor-gene-family-in-razor-clam-sinonovacula-constricta-and-their-circadian-rhythm-expression-analysis
#26
JOURNAL ARTICLE
Qiyi You, Qijun Li, Liyuan Lv, Zhihua Lin, Yinghui Dong, Hanhan Yao
Serotonin (5-HT) is primarily distributed in the gastrointestinal and central nervous systems, where it plays a crucial role in regulating various physiological functions such as digestion, reproduction and establishing animal emotions. 5-HT is an effective oxytocin widely used in molluscan aquaculture, and its physiological functions are performed by binding to corresponding 5-HT receptors (5-HTRs). In this study, seven 5-HTR genes of Sinonovacula constricta ( Sc5-HTRs ) were identified and analyzed, and they were designated as Sc5-HT1A , Sc5-HT1D , Sc5-HT2-1 , Sc5-HT2-2 , Sc5-HT2-3 , Sc5-HT4 and Sc5-HT6 ...
October 14, 2023: Animals: An Open Access Journal From MDPI
https://read.qxmd.com/read/37833013/technology-of-genomic-balancing-of-chromatin-of-autologous-hematopoietic-stem-cells-for-gene-therapy-of-fatal-immune-mediated-diseases-of-civilization-extended-life-expectancy-and-sudden-human-death-prevention
#27
JOURNAL ARTICLE
A S Bryukhovetskiy, L Yu Grivtsova, S S Bogachev, A A Ustyugov, V O Nebogatikov, M A Shurdov
A biotechnology for personalized ex vivo gene therapy based on molecular genomic balancing of hematopoietic stem cell (HSC) chromatin with nucleosome monomers of human genomic DNA (hDNAnmr ) has been developed and implemented in the clinic to change (to "correct") mutant chromosome loci genomes of dominant HSC clones that form mono- and oligoclonal hematopoiesis during aging and major (oncological, cardiovascular, neurodegenerative and autoimmune) fatal immune-mediated diseases of civilization. A fundamentally new biotechnological approach has been applied to the delivery of genetic material into eukaryotic stem and progenitor cells by establishing an artificial "recombinogenic situation" in them to induce homologous recombination (equivalent replacement) of mutant DNA regions with healthy hDNAnmr ...
2023: International Review of Neurobiology
https://read.qxmd.com/read/37815346/redundant-and-scattered-genetic-determinants-for-coumarin-biodegradation-in-pseudomonas-sp-strain-nyz480
#28
JOURNAL ARTICLE
Yichao Gu, Tao Li, Ning-Yi Zhou
Coumarin (COU) is both a naturally derived phytotoxin and a synthetic pollutant which causes hepatotoxicity in susceptible humans. Microbes have potentials in COU biodegradation; however, its underlying genetic determinants remain unknown. Pseudomonas sp. strain NyZ480, a robust COU degrader, has been isolated and proven to grow on COU as its sole carbon source. In this study, five homologs of xenobiotic reductase A scattered throughout the chromosome of strain NyZ480 were identified, which catalyzed the conversion of COU to dihydrocoumarin (DHC) in vitro ...
October 10, 2023: Applied and Environmental Microbiology
https://read.qxmd.com/read/37758324/genetic-mechanisms-of-fertilization-failure-and-early-embryonic-arrest-a-comprehensive-review
#29
JOURNAL ARTICLE
Yiqiu Wei, Jingxuan Wang, Rui Qu, Weiqian Zhang, Yiling Tan, Yanwei Sha, Lin Li, Tailang Yin
BACKGROUND: Infertility and pregnancy loss are longstanding problems. Successful fertilization and high-quality embryos are prerequisites for an ongoing pregnancy. Studies have proven that every stage in the human reproductive process is regulated by multiple genes and any problem, at any step, may lead to fertilization failure (FF) or early embryonic arrest (EEA). Doctors can diagnose the pathogenic factors involved in FF and EEA by using genetic methods. With the progress in the development of new genetic technologies, such as single-cell RNA analysis and whole-exome sequencing, a new approach has opened up for us to directly study human germ cells and reproductive development...
September 27, 2023: Human Reproduction Update
https://read.qxmd.com/read/37752346/artificial-microrna-suppresses-c9orf72-variants-and-decreases-toxic-dipeptide-repeat-proteins-in-vivo
#30
JOURNAL ARTICLE
Gabriela Toro Cabrera, Katharina E Meijboom, Abbas Abdallah, Helene Tran, Zachariah Foster, Alexandra Weiss, Nicholas Wightman, Rachel Stock, Tania Gendron, Alisha Gruntman, Anthony Giampetruzzi, Leonard Petrucelli, Robert H Brown, Christian Mueller
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor neurons, causing progressive muscle weakness and respiratory failure. The presence of an expanded hexanucleotide repeat in chromosome 9 open reading frame 72 (C9ORF72) is the most frequent mutation causing familial ALS and frontotemporal dementia (FTD). To determine if suppressing expression of C9ORF72 gene products can reduce toxicity, we designed a set of artificial microRNAs (amiRNA) targeting the human C9ORF72 gene...
September 26, 2023: Gene Therapy
https://read.qxmd.com/read/37737473/clinical-management-of-nonobstructive-azoospermia-an-update
#31
REVIEW
Teppei Takeshima, Jurii Karibe, Tomoki Saito, Shinnosuke Kuroda, Mitsuru Komeya, Hiroji Uemura, Yasushi Yumura
Approximately 1% of the general male population has azoospermia, and nonobstructive azoospermia accounts for the majority of cases. The causes vary widely, including chromosomal and genetic abnormalities, varicocele, drug-induced causes, and gonadotropin deficiency; however, the cause is often unknown. In azoospermia caused by hypogonadotropic hypogonadism, gonadotropin replacement therapy can be expected to produce sperm in the ejaculate. In some cases, upfront varicocelectomy for nonobstructive azoospermia with varicocele may result in the appearance of ejaculated spermatozoa; however, the appropriate indication should be selected...
January 2024: International Journal of Urology: Official Journal of the Japanese Urological Association
https://read.qxmd.com/read/37693566/automatic-ploidy-prediction-and-quality-assessment-of-human-blastocyst-using-time-lapse-imaging
#32
Suraj Rajendran, Matthew Brendel, Josue Barnes, Qiansheng Zhan, Jonas E Malmsten, Pantelis Zisimopoulos, Alexandros Sigaras, Kwabena Ofori-Atta, Marcos Meseguer, Kathleen A Miller, David Hoffman, Zev Rosenwaks, Olivier Elemento, Nikica Zaninovic, Iman Hajirasouliha
Assessing fertilized human embryos is crucial for in vitro-fertilization (IVF), a task being revolutionized by artificial intelligence and deep learning. Existing models used for embryo quality assessment and chromosomal abnormality (ploidy) detection could be significantly improved by effectively utilizing time-lapse imaging to identify critical developmental time points for maximizing prediction accuracy. Addressing this, we developed and compared various embryo ploidy status prediction models across distinct embryo development stages...
September 2, 2023: bioRxiv
https://read.qxmd.com/read/37682415/from-genetic-correlations-of-alzheimer-s-disease-to-classification-with-artificial-neural-network-models
#33
JOURNAL ARTICLE
Claudia Cava, Salvatore D'Antona, Francesca Maselli, Isabella Castiglioni, Danilo Porro
Sporadic Alzheimer's disease (AD) is a complex neurological disorder characterized by many risk loci with potential associations with different traits and diseases. AD, characterized by a progressive loss of neuronal functions, manifests with different symptoms such as decline in memory, movement, coordination, and speech. The mechanisms underlying the onset of AD are not always fully understood, but involve a multiplicity of factors. Early diagnosis of AD plays a central role as it can offer the possibility of early treatment, which can slow disease progression...
September 8, 2023: Functional & Integrative Genomics
https://read.qxmd.com/read/37681121/sequence-dependent-heterochromatin-formation-in-the-human-malaria-parasite-plasmodium-falciparum
#34
JOURNAL ARTICLE
Toshiyuki Mori, Mai Nakashima
The human malaria parasite Plasmodium falciparum represses transcription of the gene encoding AP2-G, which is the master regulator of germ cell differentiation, via heterochromatin condensation following histone H3 lysine 9 trimethylation (H3K9me3). Although H3K9me3-marked heterochromatin is typically constitutive and its establishment depends on the RNA interference (RNAi) pathway in fission yeast centromeres, malaria parasites lack molecular members essential for RNAi. We developed a strategy to assess heterochromatin establishment on artificial chromosomes introduced into P...
September 2023: Heliyon
https://read.qxmd.com/read/37649342/discard-or-not-discard-that-is-the-question-an-international-survey-across-117-embryologists-on-the-clinical-management-of-borderline-quality-blastocysts
#35
JOURNAL ARTICLE
Viviana Chiappetta, Federica Innocenti, Giovanni Coticchio, Aisling Ahlström, Laura Albricci, Vicente Badajoz, Maria Hebles, Miguel Gallardo, Francesca Benini, Stefano Canosa, Jiří Kumpošt, Katarina Milton, Diletta Montanino Oliva, Roberta Maggiulli, Laura Rienzi, Danilo Cimadomo
STUDY QUESTION: Do embryologists from different European countries agree on embryo disposition decisions ('use' or 'discard') about Day 7 (>144 h post-insemination) and/or low-quality blastocysts (LQB; <Gardner's BB) (i.e. borderline quality blastocysts)? SUMMARY ANSWER: The prevalence of 'discard' answers was 38.7%; nevertheless, embryologists' agreement was overall just fair (Fleiss-k = 0.26). WHAT IS KNOWN ALREADY: The utilization of LQBs and adoption of culture beyond 144 h post-insemination is increasing worldwide...
August 30, 2023: Human Reproduction
https://read.qxmd.com/read/37645653/embryo-ploidy-status-classification-through-computer-assisted-morphology-assessment
#36
JOURNAL ARTICLE
Gunawan Bondan Danardono, Nining Handayani, Claudio Michael Louis, Arie Adrianus Polim, Batara Sirait, Gusti Periastiningrum, Szeifoul Afadlal, Arief Boediono, Ivan Sini
BACKGROUND: Preimplantation genetic testing for aneuploidy has been proven to be effective in determining the embryo's chromosomal or ploidy status. The test requires a biopsy of embryonic cells on day 3, 5, or 6 from which complete information on the chromosomes would be obtained. The main drawbacks of preimplantation genetic testing for aneuploidy include its relatively invasive approach and the lack of research studies on the long-term effects of preimplantation genetic testing for aneuploidy...
August 2023: AJOG global reports
https://read.qxmd.com/read/37589769/correction-to-human-artificial-chromosome-carrying-3p21-3%C3%A2-p22-2-region-suppresses-htert-transcription-in-oral-cancer-cells
#37
Takahito Ohira, Kaho Yoshimura, Hiroyuki Kugoh
No abstract text is available yet for this article.
August 17, 2023: Chromosome Research
https://read.qxmd.com/read/37588685/phenotypic-features-of-dystrophin-gene-knockout-pigs-harboring-a-human-artificial-chromosome-containing-the-entire-dystrophin-gene
#38
JOURNAL ARTICLE
Masahito Watanabe, Hitomaru Miyamoto, Kazutoshi Okamoto, Kazuaki Nakano, Hitomi Matsunari, Kanako Kazuki, Koki Hasegawa, Ayuko Uchikura, Shuko Takayanagi, Kazuhiro Umeyama, Yosuke Hiramuki, Elisabeth Kemter, Nikolai Klymuik, Mayuko Kurome, Barbara Kessler, Eckhard Wolf, Yasuhiro Kazuki, Hiroshi Nagashima
Mammalian artificial chromosomes have enabled the introduction of extremely large amounts of genetic information into animal cells in an autonomously replicating, nonintegrating format. However, the evaluation of human artificial chromosomes (HACs) as novel tools for curing intractable hereditary disorders has been hindered by the limited efficacy of the delivery system. We generated dystrophin gene knockout ( DMD -KO) pigs harboring the HAC bearing the entire human DMD via a somatic cell cloning procedure (DYS-HAC-cloned pig)...
September 12, 2023: Molecular Therapy. Nucleic Acids
https://read.qxmd.com/read/37577592/retrotransposon-addiction-promotes-centromere-function-via-epigenetically-activated-small-rnas
#39
Atsushi Shimada, Jonathan Cahn, Evan Ernst, Jason Lynn, Daniel Grimanelli, Ian Henderson, Tetsuji Kakutani, Robert A Martienssen
Retrotransposons have invaded eukaryotic centromeres in cycles of repeat expansion and purging, but the function of centromeric retrotransposons, if any, has remained unclear. In Arabidopsis , centromeric ATHILA retrotransposons give rise to epigenetically activated short interfering RNAs (easiRNAs) in mutants in DECREASE IN DNA METHYLATION1 (DDM1) , which promote histone H3 lysine-9 di-methylation (H3K9me2). Here, we show that mutants which lose both DDM1 and RNA dependent RNA polymerase (RdRP) have pleiotropic developmental defects and mis-segregation of chromosome 5 during mitosis...
August 3, 2023: bioRxiv
https://read.qxmd.com/read/37547291/treatment-of-cho-cells-with-taxol-and-reversine-improves-micronucleation-and-microcell-mediated-chromosome-transfer-efficiency
#40
JOURNAL ARTICLE
Narumi Uno, Hiroyuki Satofuka, Hitomaru Miyamoto, Kazuhisa Honma, Teruhiko Suzuki, Kyotaro Yamazaki, Ryota Ito, Takashi Moriwaki, Shusei Hamamichi, Kazuma Tomizuka, Mitsuo Oshimura, Yasuhiro Kazuki
Microcell-mediated chromosome transfer is an attractive technique for transferring chromosomes from donor cells to recipient cells and has enabled the generation of cell lines and humanized animal models that contain megabase-sized gene(s). However, improvements in chromosomal transfer efficiency are still needed to accelerate the production of these cells and animals. The chromosomal transfer protocol consists of micronucleation, microcell formation, and fusion of donor cells with recipient cells. We found that the combination of Taxol (paclitaxel) and reversine rather than the conventional reagent colcemid resulted in highly efficient micronucleation and substantially improved chromosomal transfer efficiency from Chinese hamster ovary donor cells to HT1080 and NIH3T3 recipient cells by up to 18...
September 12, 2023: Molecular Therapy. Nucleic Acids
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