Breakthrough in Genetic Research: Scientists Decipher the Y Chromosome Code, Paving Way for Novel Treatments for Male Health Issues Including Cancer and Low Sperm Count

Scientists have mapped the Y chromosome for the first time in a breakthrough that could lead to treatments for male cancer and fertility problems.

The stubby little Y chromosome distinguishes males from females and has genes in areas that provide instructions for making proteins involved in sperm production and development.

The researchers have now mapped its entirety, revealing more than 62 million base pairs of DNA (30 million more than previously identified) and 41 new protein-coding genes that make up the Y chromosome.

It was partially sequenced in 2003, but only 50 percent discovered.

While the scientists are still in the early stages of their discovery, they said the mapping could detect variants and link them to specific traits that can lead to personalized therapies for genetic diseases.

Previous research found that men can lose some or all of that genetic material as they age, but scientists have never fully understood why this happens and the effects it can have.

Loss can increase the risk of cancer, heart disease, cancer and Alzheimer’s disease, and decreased sperm count causing infertility.

Study collaborator Kateryna Makova, from Penn State University, said: ‘The Y chromosome is by far the most difficult human chromosome to sequence and assemble.

“Deciphering its complete sequence is an important scientific milestone. My group has been working on the Y chromosome for more than 20 years and I didn’t think it was possible to get its full sequence in a short time.’

The X chromosome was fully sequenced in 2020 by NHGRI researchers, who chose to sequence it first because of its link to a variety of diseases, including hemophilia, chronic granulomatous disease, and Duchenne muscular dystrophy.

There are 24 chromosomes, including Y and X, making humans have 23 pairs, while other great apes have 24.

The Y chromosome was difficult to reach due to its relatively complex structure. Unlike most other chromosomes, the Y comprises palindromes, or sequences that are the same forward and backward.

The T2T Consortium, which led the National Human Genome Research Institute (NHGRI)-funded study, applied new DNA sequencing technologies, sequence assembly methods, and insights gained to generate the first gap-free sequences for the other 23 chromosomes. humans to solve this mystery.

Adam Phillippy, NHGRI Principal Investigator and consortium leader, said: “The biggest surprise was how organized the replays are.

‘We didn’t know what exactly constituted the missing sequence. It could have been very chaotic, but instead almost half of the chromosome is made up of alternating blocks of two specific repeating sequences known as satellite DNA.

“It makes a beautiful, quilt-like pattern.”

The 30 million new bases added to the reference Y chromosome will also be crucial for studying genome evolution.

It will now be possible to study specific and unique Y chromosome sequence patterns, such as the structure of the two satellites and the location and copy number of genes.

In a second study conducted by the University of Washington, researchers used the reference sequence to assemble 43 me Y chromosomes with roots in Africa.

The team found that the participants shared a common ancestor from about 183,000 years ago, and the The Y chromosomes were of widely different sizes, ranging from 45.2 million to 84.9 million base pairs in length.

Phillip told him living science Although the development of treatments for Y-chromosome-related diseases may not happen any time soon, he is optimistic about the feat.

“This is like the blueprint we’re looking at, and if there are whole holes in it, you might not even know where to start,” he said. “But by completing them, we have the full picture.”