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Crossovers: Mutation Movers and Shakers at Recombination Hotspots

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The dance of life begins with a grand shuffle – meiosis. During this cellular waltz, chromosomes swap genetic material, generating novel combinations that fuel evolution. But this intricate choreography holds a hidden cost: recombination hotspots, the designated crossing points, are also playgrounds for unexpected mutations and biased gene conversion, shaping the very landscape of our genomes. For decades, scientists suspected recombination's mutagenic potential. After all, hotspots experience recurrent double-strand breaks, scars that repair mechanisms sometimes mend imperfectly. Yet, pinpointing these subtle alterations amidst the cacophony of evolutionary forces proved challenging. In a recent breakthrough, researchers took a bold step – they directly sequenced hundreds of individual sperm DNA molecules, each harboring a specific recombination hotspot. Their findings, published in the Proceedings of the National Academy of Sciences, were unequivocal: crossovers, the ...

The Evolving Symphony of Human Life: Unveiling the Dance of Cis-Regulatory Elements and Transcription Factors

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Deep within the labyrinthine corridors of the human genome, a silent symphony unfolds. Orchestrated by enigmatic conductors known as cis-regulatory elements (cCREs) , this intricate performance governs the very essence of who we are – the symphony of gene expression. In this breathtaking ballet, the cCREs act as stage directors, meticulously guiding the binding of transcription factor binding sites (TFBSs) , their dedicated dancers, to specific DNA sequences. This intricate interplay determines which genes are expressed, when, and where, sculpting the tapestry of our biological functions and ultimately shaping our unique human experience. But this symphony is not a static composition. Over the vast expanse of evolutionary time, the cast of characters and the choreography have undergone dramatic transformations. While some cCREs, cloaked in the mantle of conservation, maintain their ancient melodies, others have sprung into existence through electrifying bursts of evolution – primate-s...

What Does It Means to Be 98% Chimpanzee? Book by Jonathan Marks

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“In his book, What Does It Means to Be 98% Chimpanzee? Jonathan Marks explains comparisons based on the percentage of similarity (or difference) of DNA sequences are largely Meaningless . He points out the fact that humans and daffodils possess a 35 percent genetic similarity. According to Marks, In the context of a 35% similarity to a daffodil, the 99.44% of the DNA of humans to chimp doesn’t seem so remarkable. After all, humans are obviously a heck of a lot more similar to chimpanzees than to daffodils. More than that, to say that humans are over one-third daffodil is more ludicrous than profound. There are hardly any comparisons you can make to a daffodil in which humans are 35% similar.” -F Rana While humans and chimpanzees share over 98% of their DNA, the way those genes are used, or their gene expression , plays a major role in the vast differences we see in both our biology and behavior. It's a fascinating shift in perspective from simply counting genes to u...