Researchers from the Telomere-to-Telomere (T2T) Consortium on behalf of the National Human Genome Research Institute in the USA have completed the mapping of the Y sex chromosome, which is the only one of the 23 pairs of chromosomes found in a healthy individual. In this context, scientists, who mapped 50 percent of the Y chromosome in 2003, mapped a total of 62 million DNA base pairs, marking 30 million new base pairs, and discovered 41 new genes responsible for protein production, Daily Mail reported.
According to the Daily Mail, the Y chromosome, which has been mapped using DNA sequencing technologies and sequence concatenation methods, is different from other chromosomes with the same top-down and bottom-up reading (palindrome) feature.
"The Y chromosome is by far the most difficult human chromosome to sequence and assemble. Deciphering the entire sequence is a scientific milestone. My team has been working on the Y chromosome for over 20 years and I never thought we would get the complete sequence in such a short time," said Kateryna Makova, one of the researchers.
"The regularity of the repeats was the biggest surprise. We didn't know what made up the missing sequence. It could have been more chaotic, but almost half of the chromosomes were made up of mixed repeats of two specific blocks of sequence known as satellite DNA," said Adam Phillippy, one of the researchers.
In 2020, the National Human Genome Research Institute completed the mapping of the X sex chromosome, which was prioritized for its link to diseases such as hemophilia, chronic granulomatosis, and Duchenne Muscular Dystrophy (DMD).
Although previous studies have pointed out that men lose some or all of their genetic material as they age, scientists have not been able to determine the cause-and-effect pattern of this phenomenon. It was stated that the discovery, which is still in the early stages, may allow the solution of diseases such as some types of cancer and infertility in men with gene therapy.
The results of the research were published in the journal Nature.
Source: Daily Mail