Scientists unveiled the newest technology last year. The most complete gapless sequence of the human genome ever produced – but it was missing one small piece: the Y chromosome.
It took more than 30 years to complete the puzzle of the smallest human chromosome.
It is possible that the new reference genome could contain information about male fertility.
We can now identify and explore genetic variations that may impact human traits or disease in a manner that we couldn’t do before. You can find out more about this by clicking here.Dylan Taylor is a geneticist from Johns Hopkins University, and one of the authors of this study.
The Y chromosome contains lots of repetitive sequences – including a few long palindromes – that have made it largely ‘unreadable’ until now.
The Telomere-to-Telomere Consortium, led by Arang Rhie, a genomicist at the US National Human Genome Research Institute (NHGRI), used bioinformatic algorithms and advanced sequencing techniques to join long stretches DNA, mapping the entire Y chromosome.
We knew that we were missing some pieces of the puzzle until now. You can find out more about this by clicking here.John Hopkins University computational biology professor Rajiv McCoy said that the previous draft Y chromosome lacked more than half its bases.
These gaps, which covered genes related to sperm formation, led to all kinds of incorrect assumptions in other studies. Some previously unknown human Y syles were, for instance, Irregularly thoughtSamples may contain traces of DNA from bacteria.
McCoy said, “We are now able to see the entire genome for the very first time.” You can find out more about this by clicking here..
The team assembled the entire Y-chromosome, which is 62,460.029 base pairs, by filling in over 30 million letters in the DNA sequence. The team also discovered 41 new genes that code for proteins and corrected several errors in previously sequenced segments.
Adam Phillippy is a computer scientist with the US National Human Genome Research Institute. He says, “The biggest shock was how well organized the repeats were.”
Satellite DNA is a repeating pattern of two blocks that alternate. It creates a beautiful quilt-like design.
Researchers in a second study, led by University of Washington Geneticist Pille HALAST, went one step beyond, using the reference to assemble Y-chromosomes of 43 male individuals. Half of these men were of African descent.
The assembly covered 183,000-years of human evolution, and some surprising variations were found in the Y chromosome.
One of the most striking differences was that the Y chromosomes ranged in size from 45.2 to 84.9 millions base pairs.
The structural differences are also quite striking. While the sequences of genes remained the same (and still encoded proteins) sometimes, larger sections of DNA were reversed and oriented in the opposite way along the length of the Y chromosome.
Phillippy: “When you see variation you’ve not seen before, it is hoped that those variants in the genome will be useful for understanding human disease.”
Recent gene discoveries on the Y chromosome The alleged perpetrators have been identifiedIn men with aggressive cancers, Loss of Y-chromosomeIt has been discovered that the Bladder cancer:. But we do not know what else has been overlooked.
A new era of personalized medicine beckons if sequencing technologies keep advancing, allowing whole genomes – not just select sections – to be sequenced cheaply.
However, genome sequencing can be helpful. exacerbate healthcare disparitiesIf the historical injustices, and lack of diversity within research studies is not resolved.
The researchers expect “reference genomes” to be referred to as “genomes”, as they become routinely assembled, accurate and gapless. You can also find out more about the following:.
The published studies are: Nature, You can read more about it hereThe following are some examples of how to get started: You can read more about it here.
