The human Y chromosome, answerable for figuring out male intercourse, lastly has gotten an end-to-end examination.


Researchers sequenced the chromosome, which comprises many genes concerned in sperm manufacturing and fertility, from a male of European descent. The brand new telomere-to-telomere, or tip-to-tip, building provides greater than 30 million DNA bases to a beforehand assembled reference Y chromosome, the workforce reviews on-line August 23 in Nature. It’s the last piece of the human pangenome, an effort to catalog all human DNA (SN: 5/10/23).

The Y chromosome is the smallest of the human chromosomes. “Within the previous time, individuals thought that it’s only a junkyard for human genomic materials, and it solely serves one function … to find out male intercourse,” says Yun-Fai Chris Lau, a human geneticist on the College of California, San Francisco, who was not concerned within the work. Like comic Rodney Dangerfield, the Y chromosome will get no respect, he says.

Nevertheless it’s clear that the Y does greater than figuring out male intercourse, Lau says. Some males lose the Y chromosome from a few of their cells. The loss places them in danger for most cancers, Alzheimer’s illness and different diseases (SN: 10/26/14). Having a very full reference Y chromosome will enable researchers to higher perceive the position the chromosome performs within the physique, he says.


Although small, the Y chromosome has intimidated many researchers as a result of it has so many repetitive bits of DNA, says Adam Phillippy, a bioinformatics researcher on the U.S. Nationwide Human Genome Analysis Institute in Bethesda, Md., who led the venture.

There are repeated sequences of DNA letters, or bases — the information-carrying constructing blocks of DNA — laid finish to finish and stretching for tens of millions of bases like seemingly infinite rows of similar puzzle items. Some components of the chromosome have the puzzle items inverted. And a few stretches of DNA include palindromes; the DNA letters learn the identical in each instructions. Then there are a number of copies of particular person genes.

All that repetition makes it troublesome to inform precisely the place within the puzzle a specific piece goes, so scientists saved these repeating components for final, Phillippy says. “Whenever you’re placing your puzzle again collectively once more you all the time save the repetitive bits, just like the grass or the bushes or the sky, for the top.”

A separate examine, additionally revealed on-line August 23 in Nature, sequenced your complete Y chromosome from 43 individuals, together with 21 of African descent. That examine discovered that the male intercourse chromosome can fluctuate in size from individual to individual by tens of millions of DNA bases, which means that in some individuals, the chromosome has further copies of some genes or different bits of DNA. As an example, males might have between 23 to 39 copies of TSPY genes, concerned in sperm manufacturing, the researchers discovered.

Having full Y chromosomes from a number of individuals helped Phillippy and colleagues clear up a thriller. The previous reference chromosome had the TSPY2 gene situated close to one tip of the chromosome. However the telomere-to-telomere model confirmed it near the centromere — the pinched-in a part of the chromosome — and backward in contrast with the reference. 

“We confirmed that it was right in our meeting, so then we have been simply assuming that it was an error within the previous meeting,” Phillippy says. However the second examine confirmed that each variations have been proper. TSPY2 has jumped round on the chromosome. Some individuals have it at one location, whereas others have it on the different.

Having a number of copies of TSPY genes, and the various location of TSPY2, might have an effect on the genes’ exercise and impact on sperm manufacturing, Lau says. Some earlier research have hinted that various numbers of copies might have an effect on fertility, whereas different research have discovered no relationship. The extra exact info from the brand new research might assist settle the talk, or at the least give researchers extra clues about how the genes affect sperm manufacturing, he says.

The brand new analysis might assist scientists be taught extra in regards to the evolution of the Y chromosome, Phillippy says. And ultimately, learning its genes and their variants might result in a greater understanding of fertility and coverings for infertility, he says, however such medical functions are most likely years away.

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