OVO is required for karyotypically female germ cell viability but has no known function in the male germline in Drosophila. is autoregulated by two antagonistic isoforms, OVO-A and OVO-B. All alleles were created as partial revertants of the antimorphic allele. Creation of new targeted alleles in an background indicated that disrupting the germline-specific exon extension of leads to an arrested egg chamber phenotype, rather than germ cell death. RNA-seq analysis, including >1K full length cDNAs, indicates that utilizes a number of unannotated splice variations in the extended exon and a minor population of transcripts utilizes an alternative splice. This indicates that classical alleles such as , are not truly null for , and are likely to be weak antimorphs. To generate bonafide nulls, we deleted the and promoters showing that only is required for female germ cell viability and there is an early and polyphasic developmental requirement for in the female germline. To visualize OVO expression and localization, we endogenously tagged and found nuclear OVO in all differentiating female germ cells throughout oogenesis in adults. We also found that OVO is maternally deposited into the embryo, where it showed nuclear localization in newly formed pole cells. Maternal OVO persisted in embryonic germ cells until zygotic OVO expression was detectable, suggesting that there is continuous nuclear OVO expression in the female germline in the transition from one generation to the next.
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http://dx.doi.org/10.1101/2023.08.25.554887 | DOI Listing |
Environ Sci Technol
January 2025
Key Laboratory of Study and Discovery of Small Targeted Molecules of Hunan Province, Department of Preventive Medicine, Medical school, Hunan Normal University, Changsha, Hunan 410013, China.
Humans may intake 0.02 mg/kg/day of short-chain chlorinated paraffins (SCCPs), and no study is available on mammalian ovarian damage caused by low-level SCCPs. In this study, four groups of 5-week-old female Institute of Cancer Research (ICR) mice were orally administered 0, 0.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Endocrinology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Hyperparathyroidism-jaw tumor syndrome is a rare form of syndromic primary hyperparathyroidism. We describe a young female with a history of common precursor B acute lymphoblastic leukaemia who was diagnosed with overt primary hyperparathyroidism due to a pathogenic CDC73 variant (c.25C > T).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Background: Fundamental questions remain about the key mechanisms that initiate Alzheimer's disease (AD) and the factors that promote its progression. Here we report the successful generation of the first genetically-engineered marmosets that carry knock-in (KI) point mutations in the presenilin-1 (PSEN1) gene that can be studied from birth throughout lifespan.
Method: CRISPR/Cas9 was used to generate marmosets with C410Y or A426P point mutations in PSEN1.
Cancer
January 2025
Division of Clinical Cancer Genomics, Department of Medical Oncology, City of Hope National Medical Center, Duarte, California, USA.
Background: The authors assessed the feasibility, acceptability, and impact on cancer worry of a cancer screening program using multicancer early detection (MCED) tests and whole-body magnetic resonance imaging (WBM) in individuals at high cancer risk because of family history or germline variants in cancer-susceptibility genes.
Methods: This prospective trial enrolled participants aged 50 years and older who had a significant family history of cancer or a cancer-susceptibility gene variant. Participants underwent noncontrast WBM and MCED testing.
Science
January 2025
Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Pediatric solid tumors are a leading cause of childhood disease mortality. In this work, we examined germline structural variants (SVs) as risk factors for pediatric extracranial solid tumors using germline genome sequencing of 1765 affected children, their 943 unaffected parents, and 6665 adult controls. We discovered a sex-biased association between very large (>1 megabase) germline chromosomal abnormalities and increased risk of solid tumors in male children.
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