The 44 Chromosome Man(thetech.org)
thetech.org
The 44 Chromosome Man
http://www.thetech.org/genetics/news.php?id=124
34 comments
Pretty interesting.
Incidentally, I discovered that I actually have a balanced whole arm translocation of chromosomes 5 and 16. That is I have one normal 5, one normal 16, and two abnormal chromosomes one with a 5p/16q and one with a 5q/16p. I only found it out when I rotated through a cytogenetics lab and we dropped our own chromosomes for grins. It's not a Robertsonian translocation (doesn't involved acrocentric chromosomes) but it's right through the centromeres of 5 and 16. Pretty weird, but as far as I can tell, totally asymptomatic. I'm a physician (and hobby-python guy) and have 4 completely normal kids.
Incidentally, I discovered that I actually have a balanced whole arm translocation of chromosomes 5 and 16. That is I have one normal 5, one normal 16, and two abnormal chromosomes one with a 5p/16q and one with a 5q/16p. I only found it out when I rotated through a cytogenetics lab and we dropped our own chromosomes for grins. It's not a Robertsonian translocation (doesn't involved acrocentric chromosomes) but it's right through the centromeres of 5 and 16. Pretty weird, but as far as I can tell, totally asymptomatic. I'm a physician (and hobby-python guy) and have 4 completely normal kids.
Thank you for posting this for the perspective, and it seems like this kind of random curiosity could be a nice mundane reminder of the random beauty of life, but one never knows and perhaps someone will find a genetic variance someday that is really curious and leads to something great!
Did your wife ever have a miscarriage? If not, I would guess it's very likely (>90%) that sperms with the chromosomes with the translocation can't fertilize an egg.
Wait so how could you have Children?
Yeah my oldest kid was slow to talk (fine now) so his pediatrician wanted to make sure there wasn't anything wrong, so his chromosomes were done (as well as Fragile X and all the other usual suspects). The report came back as normal chromosomes, so I can only assume he got my normal 5 and 16 (or that my wife was stepping out!!).
He has a normal 5 and a normal 16 as well as the modified versions.
My guess... The usual way. ;-)
He can still pass on the normal 5 & 16.
He can still pass on the normal 5 & 16.
How does genetic recombination during meosis work with a setup like that?
Will this person have a possibly slightly longer maximum lifespan due having 4 fewer telomeres thanks to the 2 fused chromosomes? It is known that telomere shortening is responsible for aging.
Is there some sort of weak correlation between the lifespan of a species and its number of chromosome?
And is it possibly the reason why 46-chromosome human ancestors prevailed over 48-chromosome human ancestors?
(I am no biologist; these are probably stupid questions.)
Is there some sort of weak correlation between the lifespan of a species and its number of chromosome?
And is it possibly the reason why 46-chromosome human ancestors prevailed over 48-chromosome human ancestors?
(I am no biologist; these are probably stupid questions.)
Quoting from article:
What scientists don't know yet is how 46 chromosomes came to win out over 48.
There is almost certainly no advantage in how the DNA is packaged. If anything, having a different number of chromosomes hurts someone in terms of having the most babies possible.
It might be that where the two chromosomes fused together, some new helpful gene was created. Unfortunately, there is no evidence to support this.
An alternative is that dumb luck allowed the 46 chromosome humans to win.
What scientists don't know yet is how 46 chromosomes came to win out over 48.
There is almost certainly no advantage in how the DNA is packaged. If anything, having a different number of chromosomes hurts someone in terms of having the most babies possible.
It might be that where the two chromosomes fused together, some new helpful gene was created. Unfortunately, there is no evidence to support this.
An alternative is that dumb luck allowed the 46 chromosome humans to win.
This is interesting because it provides a mechanism for speciation that doesn't involve sequestration in a lost valley or something like that: in an already established population, once you have a herd or tribe that has translocated chromosomes floating around, that subgroup has much-lowered chances of (successful) mating outside the subgroup. That, in turn, means that any beneficial mutation that arises by random chance is kept "in-house", as it were, and refined in the crucible of inbreeding, while the subgroup begins to succesfully outcompete the rest of the local population—and that local population can't acquire the beneficial mutation because of the breeding problem.
Keep in mind the very large numbers we're dealing with when we talk about speciation events. All of recorded human history is perhaps six or eight thousand years, but a hundred thousand years is a short time frame on an evolutionary scale; so even an incredibly rare mutation will happen many times.
Keep in mind the very large numbers we're dealing with when we talk about speciation events. All of recorded human history is perhaps six or eight thousand years, but a hundred thousand years is a short time frame on an evolutionary scale; so even an incredibly rare mutation will happen many times.
While translocation is cool, this certainly isn't a novel case and Robertsonian translocations are covered in undergrad genetics courses. Well written if not for the way that it starts off, making it sound like the doctor in China has made a unique discovery.
http://en.wikipedia.org/wiki/Robertsonian_translocation
http://en.wikipedia.org/wiki/Robertsonian_translocation
Humans with strange number of chromosomes. Ah... Takes me back to my undergraduate genetics course. This definitely not as unique as the article makes it sounds, and it's not surprising that he appears normal given the nature of the genetic event.
I wonder how many people harbour strange genetic surprises like this. How many of you have had a karyotype made, let alone a complete DNA analysis?
Exactly. Right now we're only beginning to explore this stuff.
It's interesting to consider how the ancestors of modern humans who first had 46 chromosomes became dominant. It could have been due to simple genetic drift, maybe the family with the translocation had a high number of offspring by chance for generation after generation, until it became a significant portion of the population of the early hominids.
More likely, (in my opinion), is that the translocated chromosome itself contained some beneficial alleles (gene versions) that gave its carriers an edge. This has nothing to do with the translocation itself, it just so happens that that particular chromosome could have a version of a gene (or versions of several genes) that increased the carrier's fitness in the environment. Some of theories regarding early hominid evolution cite a movement away from heavily forrested regions into more open grasslands. Maybe this early translocated chromosome contained alleles that were beneficial in the savannas.
At this point you'd have a number of individuals with one copy of the translocated chromosome and 47 total chromosomes (meaning the other homologous (http://en.wikipedia.org/wiki/Homologous_chromosome) chromosomes are not joined together, "normal") and a number of people who still had the original 48 chromosomes. As the article mentions, only 1/3 of the pregnancies of a 48-chromosome individual with a translocation individual would survive. However, if there was inbreeding present individuals with the translocated chromosome could be mated with each other. Here we have an even less likely chance of a successful pregnancy (8/36 or only 25%) but on the other hand we now have the possibility of individuals with just the translocated chromosome. Instead of a joined chromosome and 2 unjoined chromosomes, these individuals have 2 joined chromosomes and a total of 46 chromosomes.
Now remember that I postulated that the joined (translocated) chromosome could have carried beneficial alleles as opposed to other, unjoined versions. Some of those alleles may be recessive, meaning they'd be eclipsed by other alleles. For an individual with two copies of the translocated chromosome they would only have those recessive alleles, so they wouldn't be as likely to be eclipsed. Again, these recessive alleles may have brought about beneficial traits that weren't expressed in individuals who only had one joined chromosome. Thus, individuals with 46 chromosomes could have had an even higher chance of survival and finding other 46-chromosome individuals, thus continuing this trend.
Anyway, I admit that much of the above is really just guesswork so take it with a grain of salt. I'm primarily exploring the possibilities that could have resulted in the original 48->46 chromosome shift. It was probably a mix of genetic drift, having beneficial alleles, and the founder effect (http://en.wikipedia.org/wiki/Founder_effect). Hope you enjoyed it!
More likely, (in my opinion), is that the translocated chromosome itself contained some beneficial alleles (gene versions) that gave its carriers an edge. This has nothing to do with the translocation itself, it just so happens that that particular chromosome could have a version of a gene (or versions of several genes) that increased the carrier's fitness in the environment. Some of theories regarding early hominid evolution cite a movement away from heavily forrested regions into more open grasslands. Maybe this early translocated chromosome contained alleles that were beneficial in the savannas.
At this point you'd have a number of individuals with one copy of the translocated chromosome and 47 total chromosomes (meaning the other homologous (http://en.wikipedia.org/wiki/Homologous_chromosome) chromosomes are not joined together, "normal") and a number of people who still had the original 48 chromosomes. As the article mentions, only 1/3 of the pregnancies of a 48-chromosome individual with a translocation individual would survive. However, if there was inbreeding present individuals with the translocated chromosome could be mated with each other. Here we have an even less likely chance of a successful pregnancy (8/36 or only 25%) but on the other hand we now have the possibility of individuals with just the translocated chromosome. Instead of a joined chromosome and 2 unjoined chromosomes, these individuals have 2 joined chromosomes and a total of 46 chromosomes.
Now remember that I postulated that the joined (translocated) chromosome could have carried beneficial alleles as opposed to other, unjoined versions. Some of those alleles may be recessive, meaning they'd be eclipsed by other alleles. For an individual with two copies of the translocated chromosome they would only have those recessive alleles, so they wouldn't be as likely to be eclipsed. Again, these recessive alleles may have brought about beneficial traits that weren't expressed in individuals who only had one joined chromosome. Thus, individuals with 46 chromosomes could have had an even higher chance of survival and finding other 46-chromosome individuals, thus continuing this trend.
Anyway, I admit that much of the above is really just guesswork so take it with a grain of salt. I'm primarily exploring the possibilities that could have resulted in the original 48->46 chromosome shift. It was probably a mix of genetic drift, having beneficial alleles, and the founder effect (http://en.wikipedia.org/wiki/Founder_effect). Hope you enjoyed it!
How likely would it be that there was a near-extinction event and the reduction in the gene pool somehow caused this?
Interesting. I wonder if this fellow might reasonably be considered a new species.
"His chromosomes are arranged in a stable way that could be passed on if he met a nice girl who had 44 chromosomes too." So yes, he would.
"Species" is a vague and slightly philosophical concept, but I think an actual population of people with 44 chromosomes would have to become established before the term was applied.
"A species" is typically defined as something like "a group of individuals that can breed with each other".
"A species" is typically defined as something like "a group of individuals that can breed with each other".
So if we discovered the last Tasmanian Tiger out in the wild somewhere then it wouldn't count as a species any more because it's the last one and... aww, this is too nitpicky a semantic debate even for me.
The definition is obviously about potential: the last healthy Tasmanian Tiger could mate with another healthy Tasmanian Tiger and have baby Tasmanian Tigers.
A healthy mule can't mate with another healthy mule and have baby mules.
People who happen to be sterile or decided not to have kids can remain a part of the human species...
A healthy mule can't mate with another healthy mule and have baby mules.
People who happen to be sterile or decided not to have kids can remain a part of the human species...
We have something like that:
http://www.npr.org/blogs/krulwich/2011/05/10/136029423/the-l...
http://www.npr.org/blogs/krulwich/2011/05/10/136029423/the-l...
Of course they would have the same genes as other humans, just distributed on less chromosomes. For all practical matters, they would be indistinguishable from 46-chromosome humans.
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> As the 44 chromosome man shows, this sort of change starts out pretty rare. Right now having this particular set of chromosomes is probably a 1 in 7 billion sort of thing.
Guffaw.
Guffaw.
Those of you down-voting this comment should read up on conditional probabilities and Bayes's theorem. (Hint: there are only seven billion people alive, and very few of them have their chromosomes counted.)
It is possible that two of his chromosomes fused to become one. Primates have 48 chromosomes and we have 46, the reason this is so is because millions of years ago two primate chromosomes fused to become one, the proof is right there in your DNA, we've even located the source of the recombination, where deactivated chromosome stop codes (telomeres) exist where they don't belong.
http://www.youtube.com/watch?v=zi8FfMBYCkk
http://www.youtube.com/watch?v=zi8FfMBYCkk
That is what this article is about, both the explanation of his 44 chromosomes and the relationship to other primates (including past humans) and their 48. The article even embeds a Ken Miller YouTube video.
You should read (or at least skim!) before commenting.
You should read (or at least skim!) before commenting.
I leapt to the right conclusion without reading the article. I'm a lazy genius! reading through the article I realize they came to the same conclusion I did.
"Humans have 46 while chimpanzees (and many other great apes) have 48... Over time, people with 46 chromosomes won out over people with 48."
Well guys, I think we found the future of the human race.
Well guys, I think we found the future of the human race.
At the risk of turning into reddit:
http://media.photobucket.com/image/recent/secondgryphon/Sket...
http://media.photobucket.com/image/recent/secondgryphon/Sket...
Similar events happen all the time. I worked at a clinical genetics lab for a while, and some tests that were performed (FISH analysis) tested for whether a fragment of one chromosome is "embedded" within another. The term is chromosomal translocation. Apparently there are quite a few translocations that are completely benign and happen all the time. Usually the bigger the translocation, the higher the chance that something goes wrong. However, when an entire chromosome is translocated, the boundaries of one of the chromosomes remain intact, so there is no surprise that it happens.