di Francesca Cerati
Fonte: Il Sole 24 Ore

At Sapienza University in Rome, they have deciphered the hidden structure of centromeres, regions previously considered “genetic darkness.” The study, published in Science, opens new avenues for diagnosing tumors and hereditary diseases.

There’s a new map of the human genetic landscape. And it comes from Rome. A group of researchers from Sapienza University, led by biologist Simona Giunta of the Charles Darwin Department of Biology and Biotechnology, has deciphered for the first time the organized structure of centromeres, the central regions of chromosomes that until now were considered too complex to analyze. The findings, published in the prestigious journal Science, open up promising avenues for understanding genetic diseases and cancers.

To divide correctly, every cell in our body must precisely copy its DNA. At the center of each chromosome is the centromere, a kind of “bottleneck” that holds together the two symmetrical halves of the chromosome and plays a crucial role in this delicate operation. But centromeres, composed of very long repetitive DNA sequences, have remained a shadowy area of ​​genetics for decades.

Thanks to new sequencing technologies and sophisticated algorithms, the Giunta Lab team was able to decipher this complex region, revealing that each centromere has its own specific “signature,” a unique pattern like a barcode. And that’s not all: the same pattern is repeated in different people, suggesting a consistent and conserved organization exists across all humans.

“We discovered that each chromosome has its own recognizable centromeric code,” explains Simona Giunta, “and that this pattern can be used to analyze variations between individuals or in the presence of pathologies.”

The researchers also identified a recurring element in these sequences, dubbed “centenia,” which is found not only at centromeres but also along chromosome arms. This element could become a new tool for navigating regions of the genome previously excluded from traditional analyses.