Well, yeah... repetition equals simplicity. That's only logical! You didn't get that, eh? Are you a XX by chance? :-)
Posted on 08/23/2023 1:26:51 PM PDT by Red Badger
The gapless sequence of the human genome ever produced – but it was missing one small piece: the Y chromosome.
Now, the smallest member of the human chromosome family has been fully sequenced, completing a puzzle that's taken three decades to solve.
The result is an all-encompassing human reference genome, one that could now contain secrets about male fertility.
"Now that we have this 100 percent complete sequence of the Y chromosome, we can identify and explore numerous genetic variations that could be impacting human traits and disease in a way that we weren't able to do before," says Dylan Taylor, a geneticist at Johns Hopkins University and one of the study authors.
The Y chromosome contains lots of repetitive sequences – including a few long palindromes – that have made it largely 'unreadable' until now.
Led by genomicist Arang Rhie from the US National Human Genome Research Institute, the aptly named Telomere-to-Telomere consortium used advanced sequencing techniques and newly developed bioinformatic algorithms to stitch long stretches of DNA together, finally mapping the Y chromosome in full.
"We knew we had an incomplete picture up until now," says John Hopkins University computational biologist Rajiv McCoy in what could be considered a slight understatement, given the previous draft of the Y chromosome was missing more than half of its bases.
Those gaps, many of which spanned genes relating to sperm production, led to all sorts of incorrect assumptions being made in other studies. Some previously unknown human Y sequences were, for example, mistakenly thought to be traces of bacterial DNA contaminating samples.
"But we can now see the entire genome from end to end for the first time," McCoy says.
The team filled in more than 30 million 'letters' in the DNA sequence to assemble the Y chromosome in its entirety: all 62,460,029 base pairs. They also corrected multiple errors in previously sequenced sections and discovered 41 new protein-coding genes.
"The biggest surprise was how organized the repeats are," says Adam Phillippy, a computer scientist at the US National Human Genome Research Institute.
"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."
In a second study led by University of Washington geneticist Pille Hallast, researchers went one step further, using the reference sequence to assemble human Y chromosomes from 43 male individuals, half of whom represented African lineages.
Together, the assemblies spanned 183,000 years of human evolution and revealed some surprising variations in the Y chromosome.
For one, the Y chromosomes were vastly different sizes, ranging from 45.2 million to 84.9 million base pairs in length.
There were also striking structural differences: the precise sequences of genes were conserved (so they still encoded the right proteins) but sometimes larger sections of DNA were flipped, oriented in the opposite direction along the Y chromosome.
"When you find variation that you haven't seen before, the hope is always that those genomic variants will be important for understanding human health," says Phillippy.
Recently, genes on the Y chromosome have been implicated in aggressive forms of common cancers in men, while Y chromosome loss has been found to drive the growth of bladder cancers. But we don't know what else we've overlooked.
A new era of personalized medicine beckons if sequencing technologies keep advancing, allowing whole genomes – not just select sections – to be sequenced cheaply.
But genome sequencing could exacerbate healthcare disparities if historical injustices and the lack of diversity in research studies aren't resolved.
"Ultimately, as the complete, accurate and gapless assembly of diploid human genomes becomes routine, we expect that 'reference genomes' will become known simply as 'genomes'," the researchers conclude.
The studies have been published in Nature, here and here.
Yep.
Vive la différence!
Let me guess...still no ‘gay’ gene.
Trans women are women!
Trans women are women!
Trans women are women!
Trans women are women!
Trans women are women!
Trans women are women!
Trans women are women!
Napoleon would not have spoken English.
Y, DNA, Y?
I thought we did away with chromosomes and are basing science on personal preference?
The biggest surprise was how organized the repeats are,….
Well, everyone knows you gotta tell guys over, and over, and over. They eventually get it.
ok LOL
Nicely done
Bookmark.
"but it was missing one small piece"
That's why I always had a screw left over when putting the dashboard back in.
completing a puzzle that's taken three decades to solve
Because they refused to read the instructions.
contains lots of repetitive sequences
E.g. mentally sort grocery list items by aisle, get first item on sorted list,
then next item, then next item, then next item, then next item, then next item
but sometimes larger sections of DNA were flipped
This is needed to deal with situations like when the a**hole store manager moves stuff to different aisles
>But genome sequencing could exacerbate healthcare disparities if historical injustices and the lack of diversity in research studies aren’t resolved.
This isn’t a quote from one of the staff so presumably the writer doing the obligatory DEI tidbit so as to keep ‘xir’ job.
Nonetheless you can count on this: if there’s something out there that can help people, but it doesn’t help “POC” *more*, or if the required quota of alphabet people aren’t credited and well-paid, we won’t see it.
Even more likely, since the goal of the WEF crew is to kill nearly everyone and keep 500 million alive to serve as serfs, this will get perverted into a tool of mass death.
I second that emotion
A Toyota.....................
Good one.
This turned out to be fun. All started out seriously until I mentioned the line about the palindrome sequence of chromosomes.😇
Thanks Red Badger. I thought I felt something.
“Able was I ere I saw Elba.” — Napoleon fake quote
Q: Why does a man have a ‘Y’ Chromosome instead of an ‘X’ Chromosome.
A: That’s where God took out the ‘rib’..............
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