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Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital and collaborating institutions have gained new insights into the molecular changes leading to Rett syndrome, a severe neurological disorder caused by mutations in the MeCP2 gene encoding methyl-CpG binding protein 2 (MeCP2).

The team reports in the journal Neuron that loss of MeCP2 in adulthood causes immediate progressive dysregulation of hundreds of genes—some are activated while others are suppressed—and these changes occur well before any measurable deficiencies in neurological function.

The MeCP2 protein is most highly expressed in neurons— where, like an orchestra conductor, MeCP2 directs the expression of hundreds of genes. When mutations produce a nonfunctional MeCP2 protein, the conductor is no longer present to direct the harmonious expression of genes needed for normal brain function. The resulting discord in leads to Rett syndrome.

Infectious diseases can have very different effects on different people; some individuals may have virtually no symptoms from COVID-19, for example, while others are killed by the viral disease. Scientists have now learned more about one genetic mechanism that can lead to variations in immune responses in different people. The findings, which have been reported in Cell, describe a kind of tuner that can dial the immune response up or down, and has been encoded in human DNA for millions of years.

The human genome contains bits of ancient viruses known as retrotransposons, which were once able to move around the genome, like so-called jumping genes, but have since been brought under control. They are thought to compose a major part of the genome. Researchers have identified instances where retrotransposons can become active again, however, such as in some types of cancer. Now even more consequences of these trasnposons are being identified.

Recent scientific efforts have advanced the development of a comprehensive primate evolutionary timetree, filling significant gaps in our understanding of primate biodiversity and evolutionary history.

The primate order includes not only humanity’s closest relatives—the seven great apes—but also more than 450 species of monkeys, lemurs, lorises, and galagos. This group is remarkably diverse, ranging from 400-pound gorillas to tiny mouse lemurs (Microcebus) that weigh just one ounce. Primates display some of the most fascinating behaviors in the animal kingdom: chimpanzees use sticks to ‘fish’ for termites in hollow logs, while orangutans fashion leaf gloves to handle prickly durian fruit.

Despite being among the most thoroughly studied animals on Earth, primates still lack a complete molecular phylogenetic tree—a comprehensive evolutionary map detailing when different species emerged and how they are related. A robust phylogenetic tree would use genetic data to trace the timing of species’ appearances and identify their closest evolutionary relatives. Currently, the largest molecular timetree for primates includes just over 200 species. Even the most extensive synthetic timetree, based on more than 4,000 published studies, covers only about 400 species, leaving roughly one-fifth of the primate evolutionary tree unresolved.

Introduction: The lips fulfill various critical physiological roles besides being viewed as a fundamental aesthetic feature contributing to the perception of health and beauty. Therefore, any lip injury, abnormality, or congenital malformation, such as cleft lip, needs special attention in order to restore proper lip function and aesthetics. To achieve this goal, a better understanding of the complex lip anatomy, function, and biology is required, which can only be provided by basic research endeavors. However, the current lack of clinically relevant human lip cells and three-dimensional in vitro lip models, capable of replacing ethically questionable animal experimentations, represents a significant limitation in this area of research.

Methods: To address these limitations, we aimed to pioneer the introduction of immortalized healthy lip-and cleft lip-derived keratinocytes. Primary keratinocytes were isolated from patients’ samples and immortalized by introducing the catalytic domain of telomerase, combined with the targeted knockdown of the cell cycle inhibitor gene, p16INK4A. We then focused on validating the newly established cell lines by comparing their genetic stability and key phenotypic features with their primary keratinocyte counterparts.

Results: The newly established immortalized keratinocyte cell lines demonstrated genetic stability and preserved the main phenotypic characteristics of primary keratinocytes, such as cellular morphology and differentiation capacity. Three-dimensional lip models, generated using these cell lines, proved to be effective and convenient platforms for screening applications, including wound healing and microbial infection of the lip epithelium.

One of the most elusive challenges oncologists encounter is why some patients respond to a particular therapy while others do not. Thus, optimizing a personalized treatment regimen that gives a patient the best odds of success has become a cornerstone of cancer research. The desire to implement more individualized therapies has brought about an increasing the focus on personalized medicine. This promising approach uses specific patient characteristics, including genetic makeup, environment, and lifestyle, to develop an individualized treatment plan.

Working towards improving the speed and accuracy of genetic screening to inform personalized medicine, a team of researchers conducted a comprehensive study. The journal NPJ Precision Oncol recently published the results. The researchers meticulously investigated the gene expression of almost 800 cancer cell lines and their response to treatment. With this thorough process, the researchers identified specific genetic patterns that correlated with drug resistance.

The study identified 36 genes correlating to resistance to multiple anti-cancer drugs. The researchers calculated a score, called UAB36, based on the correlation coefficient of the 36 genes identified. This UAB36 score, a novel predictive tool, accurately forecasted resistance to tamoxifen, an anti-cancer drug used to treat some types of breast cancer and prevent cancer progression in women with ductal carcinoma in situ (DCIS).

Surviving Neanderthal genes in the modern genome tell a story of thousands of years of interactions.

Recent DNA studies have refined the period when Neanderthals and modern humans interbred to a span of about 7,000 years, leaving Eurasians with significant Neanderthal genetic contributions. These findings also help clarify the timeline and routes of ancient human migrations from Africa.

Genetic Insights into Ancient Human-Neanderthal Interactions.

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Summary: Researchers have identified a genetic mechanism that regulates behavioral adaptations to emotional experiences by forming R-loops, unique RNA: DNA structures that activate target genes. The study focused on NPAS4, a gene implicated in stress and drug addiction, showing how blocking R-loops prevents maladaptive behaviors like cocaine seeking and stress-induced anhedonia in mice.

This mechanism demonstrates how emotional experiences influence brain circuits by altering gene expression through enhancer RNA. The findings could pave the way for RNA-based therapies to treat psychiatric disorders linked to stress and substance use.