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Recent advancements in genetic testing have revealed cases of mosaicism, demonstrating the phenomenon may be more common than once thought. Broadly defined, mosaicism describes the presence of two genotypically different cell lineages within the same organism. This can arise from small mutations or errors in chromosome segregation, as early as in gametes, before or after fertilization. Mosaicism is directly responsible for many conditions that present in a wide range of tissues, with the presence of the mutation or genetic abnormality following a tissue-dependent pattern. This makes it possible for patients to test negative for a condition using a standard tissue sample while harboring the variant in a different tissue. Understanding the timing and mechanisms of mosaic conditions will aid in targeted testing that is more appropriate to identify a pathogenic variant. This targeted testing should reduce the length of a patient's diagnostic odyssey and provide a better understanding of the chances of passing on their variant to their offspring, thereby allowing for more accurate genetic counseling. We illustrate this phenomenon with two cases: one of Pallister-Killian syndrome and the other of tuberous sclerosis complex. Both patients had increased time to diagnosis because of difficulties in identifying genetic variants in tested tissues. Beyond just increased time to diagnosis, we illustrate that mosaic conditions can present as less severe and more variable than the germline condition and how specific germ layers may be affected by the variant. Knowing which germ layers may be affected by the variant can give clinicians a clue as to which tissues may need to be tested to yield the most accurate result.
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http://dx.doi.org/10.7759/cureus.49644 | DOI Listing |
J Agric Food Chem
December 2024
Guangdong Province Key Laboratory of Microbial Signals and Disease Control, College of Plant Protection, South China Agricultural University, Guangzhou 510642, China.
Rice stripe mosaic virus (RSMV) is the sole cytoplasmic rhabdovirus documented in naturally infected rice plants. It encodes P6, which induces delayed heading and reduces yield in infected rice plants. P6 of RSMV interacts with OsHAPL1, facilitating the interaction between OsHAPL1 and DTH8, resulting in delayed rice heading under long day conditions.
View Article and Find Full Text PDFJ Environ Manage
December 2024
CE3c - Centre for Ecology, Evolution and Environmental Changes & CHANGE - Global Change and Sustainability Institute, Departamento de Biologia Animal, Faculdade de Ciências, Universidade de Lisboa, 1749-016, Lisboa, Portugal.
Bats provide important ecosystem services, particularly in agriculture, yet integrating bat management into conservation plans remains challenging. Some landscape features considerably influence bat presence, diversity, and ecosystem service provision. Understanding the relationship between landscape structure, composition, pest suppression, and ecosystem services is crucial.
View Article and Find Full Text PDFJACC Clin Electrophysiol
December 2024
Office of the Chief Medical Examiner, City and County of San Francisco, San Francisco, California, USA.
Background: Sudden cardiac death (SCD) genetic studies neglect the majority occurring in older decedents with cardiovascular pathology.
Objectives: This study sought to determine the burden of genetic disease in unselected adult sudden deaths by precision genotype-postmortem phenotype correlation.
Methods: The authors used autopsy, histology, and toxicology to adjudicate cause and identify high-suspicion phenotypes (eg, hypertrophic cardiomyopathy) among presumed SCDs aged 18 to 90 years referred to the county medical examiner from February 2011 to January 2018.
Curr Opin Genet Dev
December 2024
Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122 Milan, Italy; Human Technopole, Viale Rita Levi-Montalcini 1, 20157 Milan, Italy. Electronic address:
The collection of Homo sapiens anatomical hallmarks hypothesized to support the 'human condition' did not appear at one specific time and place, but gradually, creating a reticulate evolutionary trajectory. The recent reconstruction of migration patterns and gene flows across different hominin species and populations draws a mosaic that we contend can be illuminated by genomic comparisons and specific experiments. Here, we first review key discoveries that could allow this experimental endeavor by describing recent advances in a variety of fields, stressing the importance of charting the current human neurodiversity as an interpretive substrate for evolutionary changes.
View Article and Find Full Text PDFGeroscience
December 2024
Academy of Biomedical Engineering, Kunming Medical University, Kunming, 650500, China.
Mosaic loss of Y chromosome (mLOY) is an acquired condition wherein a sizeable proportion of an organ's cells have lost their Y. Large-scale cohort studies have shown that mLOY is age-dependent and a strong risk factor for all-cause mortality and adverse outcomes of age-related diseases. Emerging multi-omics approaches that combine gene expression, epigenetic and mutational profiling of human LOY cell populations at single-cell levels, and contemporary work in in vitro cell and preclinical mouse models have provided important clues into how mLOY mechanistically contributes to disease onset and progression.
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