2023-08-28 08:04:19
Your genetic code will help to better understand male fertility and genetic pathologies.
A team of more than 100 researchers from around the world in the Telomere-to-Telomere (T2T) consortium has succeeded in fully sequencing the only remaining mysterious piece of the human genome, the male sex chromosome.
Unveiling the genetic code of the Y chromosome has been an impossible mission for decades due to the complexity of its structure, and for this reason the only complete human genome that was available as a reference up to now was that of two X chromosomes. Researchers have discovered 41 genes encoding additional proteins on the Y chromosome and have deciphered gene structures thought to play important roles in the growth and function of the male reproductive system. According to work published yesterday in Nature, the sequencing of the male sex chromosome adds 30 million DNA bases to the human genome reference, mostly from satellite DNA (highly repetitive sequences).
The structure of the Y chromosome has been challenging among other reasons because some of the DNA is organized in palindromes (long sequences that are the same forwards and backwards) and it was difficult to tell when the repeating patterns were reversed. But advances in sequencing technology and bioinformatics algorithms have allowed the T2T team co-led by Karen Miga, a biomolecular engineer at the University of California, Santa Cruz, to solve those sequences.
The specialists explain that the genetic code of the Y chromosome reveals details that can help to understand its role in male development, fertility or diseases of genetic origin such as cancer, but also to study human evolution. This is because the Y chromosome, unlike the X, is passed from parent to child with little recombination, so it is easier to trace genes from generation to generation and see how they have changed.
When scientists and doctors study a person’s genome, they do so by comparing their DNA to a reference standard to see where there is variation. “Previously we were blind to parts of the genome and to different mutations, but now we can see the whole genome and hopefully we can add new insights into the genetics of many diseases,” said Michael Schatz, a professor at Johns Hopkins University who is part of the research team. T2T.
The Y chromosome is best known for its role in sexual development and spermatogenesis (the production of sperm) and is usually associated with males, although it is also found in intersex people. In addition, recent studies have shown that it contributes to other aspects of human biology, such as cancer risk and severity.
The researchers say that their discovery will allow progress in various scientific fields and plan to incorporate complete sequences of the Y chromosome into the genomes that make up the pangenome (genomic information from people of various ancestral origins) to facilitate understanding of the male sex chromosome in the diversity of the human population. Mayte Rivers
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