New sequence reveals genomic factors in fertility, including sperm production. An international research team has generated the first truly complete sequence of a human Y chromosome, the final human chromosome to be fully sequenced. The new sequence, which fills in gaps across more than 50% of th
Scientists have successfully sequenced the entire human Y chromosome, uncovering critical genomic features. This groundbreaking research offers deep insights into human biology and potential medical advancements.An international research team has generated the first truly complete sequence of athe final human chromosome to be fully sequenced.
The Y chromosome is the last of the 24 human chromosomes to be completely sequenced. Credit: Darryl Leja, National Human Genome Research Institute When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences of all 24 chromosomes. However, unlike the small gaps sprinkled across the rest of the genome sequence —— over half of the Y chromosome’s sequence remained a mystery.
“The biggest surprise was how organized the repeats are,” said Adam Phillippy, Ph.D., a senior investigator at NHGRI and leader of the consortium. “We didn’t know what exactly made up the missing sequence. It could have been very chaotic, but instead, nearly half of the chromosome is made of alternating blocks of two specific repeating sequences known as satellite DNA. It makes a beautiful, quilt-like pattern.
Deletions in the azoospermia factor region are known to disrupt sperm production, and thus these palindromes could influence fertility. With a complete Y chromosome sequence, researchers can now more precisely analyze these deletions and their effects on sperm production.
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