Genetics

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Scientists in a lab boosting MeCP2 protein levels to treat Rett syndrome, showing restored neurons and mouse models.
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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.

Scientists have discovered that snow flies, small wingless insects, produce antifreeze proteins and generate their own body heat to remain active in subfreezing temperatures as low as -6 degrees Celsius. Researchers at Northwestern University sequenced the insects' genome for the first time, revealing unusual genes and reduced sensitivity to cold pain. The findings, published March 24 in Current Biology, offer insights into adaptations for extreme cold.

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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.

Researchers at the University of California, Berkeley have identified a methane-producing archaeon that interprets a standard stop codon in two ways, challenging a core principle of biology. The microbe, Methanosarcina acetivorans, sometimes adds an amino acid called pyrrolysine instead of halting protein synthesis. This flexibility may aid in metabolizing compounds linked to human health.

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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.

Researchers at the University of California San Diego have discovered the enzyme N4BP2, which triggers chromothripsis, a chaotic genetic event in cancer cells. This process allows tumors to rapidly evolve and resist treatments. The findings, published in Science, suggest blocking N4BP2 could limit cancer's genomic instability.

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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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