The X and Y chromosomes, known as sex chromosomes, determine an individual’s biological sex – Photo Jonathan Bailey, National Human Genome Research Institute, National Institutes of Health
Scientists have taken an important step towards understanding the human genome by completely deciphering the enigmatic Y chromosome found in men, an achievement that could help guide research into male infertility.
👶🔎 On Wednesday 8/23, researchers have revealed the first complete sequence of the Y chromosome human, which is one of the two sex chromosomes – the X chromosome being the other – and is usually transmitted from father to son. It is the last of the 24 chromosomes – stringy structures that carry genetic information from cell to cell – in the human genome to be sequenced.
We humans have a pair of sex chromosomes in each cell. Men have one Y chromosome and one X chromosome, while women have two X chromosomes, with a few exceptions.
🧬👨🔬 Os Y chromosome genes help govern reproductive functions crucial, including sperm production, formally called spermatogenesis, and are even involved in cancer risk and severity. But this chromosome had proved difficult to decipher because of its exceptionally complex structure.
“I would attribute this to new sequencing technologies and computational methods,” said Arang Rhie, a scientist at the US National Human Genome Research Institute and lead author of a research paper detailing the achievement in the journal Nature.
Geneticist Karen Miga in the laboratory at the University of California, USA – Photo: Carolyn Lagattuta, UC Santa Cruz/Handout via REUTERS
“This finally gives us the first complete look at the code of a Y chromosome, revealing more than 50% of the chromosome’s length that was missing from our genomic maps,” said Karen Miga, a professor of biomolecular engineering at the University of California, Santa Cruz ( UCSC) and study co-author, co-leader of the Telomere-to-Telomere consortium behind the research.
🔬📖 The complete sequence of the X chromosome was published in 2020. But until now, the Y chromosome part of the human genome contained large gaps. The work revealed features of medically relevant regions of the Y chromosome, including a stretch of DNA containing several genes involved in sperm production.
The new, more complete understanding of Y-chromosome genes holds promise for practical applications, including fertility-related research, the researchers said.
Many of these genes are important for fertility and reproduction, especially spermatogenesis. Therefore, being able to catalog normal variations, as well as situations in which azoospermia occurs (absence of sperm in the semen), could be useful for IVF clinics, as well as for future research on the activity of these genes.
– Monika Cechova, co-lead paper author and postdoctoral fellow in biomolecular engineering at UCSC
In addition to identifying some additional genes on the Y chromosome, the researchers found that part of the chromosome’s DNA had been mistakenly assumed to be of bacterial origin in previous studies.
Os scientists continue to expand our understanding of human genetics. A first mapping of the human genome was revealed in 2003.
The first complete human genome – albeit with just a part of the Y chromosome – was published last year. In May, researchers published a new version of the genome that improved on its predecessor by including a wider diversity of people to better reflect the global population of 8 billion individuals.
*With information from Will Dunham, Reuters
2023-08-28 02:02:16
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