Genetica
Scientists raise MeCP2 levels by shifting MECP2 splicing in early Rett syndrome studies
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Researchers at Texas Children’s Hospital’s Duncan Neurological Research Institute and Baylor College of Medicine report an experimental gene-targeting approach designed to increase levels of the MeCP2 protein disrupted in Rett syndrome. In mouse experiments and neurons derived from patient cells, the strategy boosted MeCP2 and partially restored cellular structure, electrical activity and gene-expression patterns, according to findings published in Science Translational Medicine.
A 20-year experiment cloning mice has revealed that clones develop significantly more genetic mutations than naturally reproduced mice, accumulating to fatal levels after multiple generations. Researchers led by Teruhiko Wakayama at Yamanashi University in Japan found over 70 mutations per clone generation on average, three times higher than in controls. The findings, published in Nature Communications, raise concerns for applications in farming, conservation and de-extinction efforts.
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Archaeologists have identified the oldest genetically confirmed dog remains from a site in Turkey dating back 15,800 years, pushing the timeline for canine domestication by about 5,000 years. Additional remains from the UK, around 14,300 years old, show dogs were widespread across Europe during the hunter-gatherer era. The findings suggest early humans spread domesticated dogs through cultural exchanges.
Researchers have discovered that DNA in newly fertilized eggs forms a structured 3D scaffold before the genome activates, challenging long-held assumptions. Using a new technique called Pico-C, scientists mapped this organization in fruit fly embryos. A related study shows that disrupting this structure in human cells triggers an immune response as if under viral attack.
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Genetic analysis suggests that interbreeding between Neanderthals and Homo sapiens involved mostly male Neanderthals and female modern humans. Researchers examined sex chromosomes to uncover this pattern, which occurred during multiple periods after humans left Africa. The findings point to mating preferences as the likely explanation, though experts call for more evidence.
Researchers at the University of California, Irvine report that a machine-learning system called SIGNET can infer cause-and-effect links between genes in human brain tissue, revealing extensive rewiring of gene regulation—especially in excitatory neurons—in Alzheimer’s disease.
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Scientists have identified the oldest confirmed human RNA virus in lung tissue from a woman who died in London around the 1770s. The rhinovirus, which causes the common cold, was reconstructed from fragmented genetic material preserved in alcohol. This discovery opens new possibilities for studying the evolution of RNA viruses in human history.
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