Unraveling the Mysteries Of The Y Chromosome

17:00 minutes

rendering of 23 chromosomes, with the last two in the bottom right corner labeled sex chromosomes. the x sex chromosome is longer than the y sex chromosome. the y chromosome is highlighted green and enlarged to the side for emphasis
Until recently, about half of the human Y chromosome was missing from the reference genome. Now, scientists have sequenced this chromosome from end to end. Credit: National Human Genome Research Institution

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.

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Segment Guests

Adam Phillippy

Adam Phillippy is head of the Genome Informatics Section, and a senior investigator in the National Human Genome Research Institute, National Institutes of Health in Bethesda, Maryland.

Kateryna Makova

Dr. Kateryna Makova is a professor of Biology and the Willaman Chair of Life Sciences at Pennsylvania State University in State College, Pennsylvania.

Segment Transcript

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