Scientists have taken an important step forward in understanding the human genome — our genetic blueprint — by fully deciphering the enigmatic Y chromosome present in males, an achievement that could help guide research on infertility in men.
Researchers on Wednesday unveiled the first complete sequence of the human Y chromosome, which is one of the two sex chromosomes — the X chromosome being the other — and is typically passed down from male parent to male offspring. It is the last of the 24 chromosomes — threadlike structures that carry genetic information from cell to cell — in the human genome to be sequenced.
"I would credit new sequencing technologies and computational methods for this," said Arang Rhie, a staff scientist at the U.S. National Human Genome Research Institute and lead author of a research paper detailing the achievement in the journal Nature. "This is especially important because the Y chromosome has been traditionally excluded from many studies of human diseases," UCSC genomicist and study co-author Monika Cechova said.
"Many of these genes are important for fertility and reproduction, and especially spermatogenesis, so being able to catalog normal variation as well the situations when, for example, azoospermia occurs, could be helpful for IVF clinics as well as further research into activity of these genes," Cechova said.
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