Last week, we briefly mentioned the sequencing and analysis of the human Y chromosome, which was recently reported in the journal Nature. It’s an important achievement—the small Y chromosome is filled with repeated segments of genetic code that make reconstructing the full sequence difficult. Think of trying to put together a jigsaw puzzle—the unique parts of the picture are easy, but areas with repeated colors, like sky or waves, are more challenging.    

In addition to the complete sequence of one individual’s Y, other researchers compared the Y chromosomes of 43 different individuals—and found that the structure of the chromosome can vary widely from one person to another. 

The Y chromosome plays a key role in sex determination and sperm production, making it of interest to fertility researchers. It’s also linked to some diseases and health conditions. 

Adam Phillippy, a senior investigator in the computational and statistical genomics branch of the National Human Genome Research Institute at the National Institutes of Health, and Kateryna Makova, a professor of biology at Penn State University, join Ira to talk about the challenges of sequencing the Y chromosome, and what doing so might mean for medical research.

Further Reading

• Read the paper in Nature on the assembly of 43 human Y chromosomes.
• Read the Nature paper about the complete sequence of a human Y chromosome.