Medhealth Review

Comprehensive Sequencing of Human Y Chromosome Performed for the First-time

The first comprehensive sequencing of the human Y chromosome, which is directly associated with male development, has been accomplished by an international scientific team.

The National Human Genome Research Institute (NHGRI), a United States National Institutes of Health, financed the Telomere-to-Telomere (T2T) Consortium, a group of scientists, to conduct the research.

One of the two sex chromosomes in humans, together with the X chromosome, is the Y chromosome. The Y chromosome makes up over 2% of all DNA in cells and spans more than 59 million base pairs, the basic unit of DNA.

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Males have one X and one Y chromosome, whereas females have two X chromosomes. Males also contain the Y chromosome.

The final human chromosome is to be entirely sequenced, the research might help us understand everything from illness to fertility.

The uncommon repetition of the Y chromosome makes it exceptionally challenging to complete the sequence.

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The study, published on August 23 in Nature, found crucial genetic characteristics. Although the X and Y chromosomes play crucial roles in sexual development, the study found that the components involved are dispersed across the genome. 

The authors of the study used the example of reading a book to describe the difficulty. It is easy to stitch together lengthy text strips to form a book if each line is distinct. It’s challenging to decide what the proper sequence could be if the lines are repeated hundreds or millions of times.

“The biggest surprise was how organized the repeats are. 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,” says, Adam Phillippy, senior investigator at NHGRI.

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