New analyses of the human Y chromosome reveal millions of new bases and different locations for the same gene in different people.
The Y chromosome is the smallest of the human chromosomes. “In the old time, people thought that it’s just a junkyard for human genomic material, and it only serves one purpose … to determine male sex,” says Yun-Fai Chris Lau, a human geneticist at the University of California, San Francisco, who was not involved in the work. Like comedian Rodney Dangerfield, the Y chromosome gets no respect, he says.
, Alzheimer’s disease and other illnesses . Having a truly complete reference Y chromosome will allow researchers to better understand the role the chromosome plays in the body, he says. There are repeated sequences of DNA letters, or bases — the information-carrying building blocks of DNA — laid end to end and stretching for millions of bases like seemingly endless rows of identical puzzle pieces. Some parts of the chromosome have the puzzle pieces inverted. And some stretches of DNA contain palindromes; the DNA letters read the same in both directions. Then there are multiple copies of individual genes.
Having complete Y chromosomes from multiple people helped Phillippy and colleagues clear up a mystery. The old reference chromosome had the TSPY2 gene located near one tip of the chromosome. But the telomere-to-telomere version showed it close to the centromere — the pinched-in part of the chromosome — and backward compared with the reference.
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