Karyotype Change in hominoidae and the hybridization theory

Humans have 46 chromosomes while Chimpanzees, bonobos, gorillas and orangutans have 48. How could this have happenned, and what has it got to do with the hybridisation idea?

My ideas on hybridisation are rather unusual, I have to admit, but I think they’re logical and make more sense than anything else I’ve read so far.

Anyway, I'd like to invite comment from anyone who is interested in why humans have 46 chromosomes whereas the other great apes have 48.

The ideas here are, I think, quite complex so this is a rather lengthy piece...

The most popular scenario to explain chromosome number change in Hominoidae, as I understand it, is based on a mutation in either sex (I've heard it suggested that the female might be the more likely of the two, but I’m not sure why that should be) that results in an n=23 haplotype gamete which then fuses with a ‘normal’ hominoid (n=24) gamete of the other sex to make an F1 generation with 47 chromosomes. The idea is that this viable, mature, fit individual then mates with other individuals with 2n = 48 chromosomes to produce F2 with 50% chance of 2n = 48 and 50% with 2n = 47 and from this, subsequent interbreeding would eventually produce a small population with 2n = 46 chromosomes and from there... The rest is history.

My problem with this scenario is one, I suppose, of huge personal incredulity. These odd (2n= 47) chromosome numbered individuals are somehow considered to not only be viable at birth, but manage to survive to adulthood and actually not only able to produce viable offspring but, presumably, have sufficient sexual fitness that attracts ‘normal’ peers (actually probably either a brother or sister) in the group. I know that there are examples in nature where such odd chromosome numbers are indeed viable but then again there are many examples in humans where even a single deletion is fatal. Even when extra chromosomes are present (ie in trisomy) it more often than not results in a foetus that is not even viable.

To make it work, it seems to require a very small population bottleneck to justify that such rare individuals (although there must be at least four) might actually interbreed – probably with siblings. This implies that both the 2n=47 chromosome and, especially, the resulting (and much rarer, to start with) 2n=46 chromosome individuals really must have some kind of inherent ‘super-fitness’ from day one, otherwise how could they not only survive but out-compete the parental (2n=48) population? However, if there was a bottleneck then, presumably, the local population had recently already gone through difficult times, and yet this novel, and seemingly death defying, karyotype, manifest in just a handful of individuals, is proposed to rescue the species from the edge of extinction.

I just don’t buy it.

My version of a hybridisation model is, I think, much more plausible.

Firstly, before going into it in detail, we need to remember that hybrid zones exist everywhere and probably always have. All you need is two populations separated by some relatively (in evolutionary terms) short-lived geographical barrier, which is then removed again (as happens all the time in coastal niches with sea levels rising and falling like clockwork) and you have two groups of closely related species with a semi-permanent interface between the two where repeated interbreeding events could happen again and again over extended time periods. I think they provide a much healthier environment for speciation events than does founder populations. Look at the gibbons. There are many sympatric species, almost all of them with different numbers of chromosomes. Clearly, very little geographic isolation has occurred there. Hybrid zones provide a much better model

Secondly, we should note that botanists have, for many decades, used the fact of hybridisation in their models of speciation (see, e.g. Grant (1971)) and that in fish species, hybrid speciation has manifestly happenned many times. (see e.g. Hubbs (1955). Clearly, it is rarer in mammals but it should be obvious from the above that it is theoretically possible from a genetic point of view. All that is needed for it to work in mammals is some way of overcoming mating barriers. In that area primates are probably the strongest candidates, due to their sociality and rather complex socio-sexual systems which tend to leave frustrated males on the sidelines. It therefore seems perfectly plausible to postulate one group of hominids on the edge of the range of another, where interbreeding would actually become a fairly common occurrence.

What might result of such interbreeding events? Clearly it depends on the length of time of the separation. If population a and b are separated for a very brief amount of time (say 150ky) then, clearly, insufficient genetic drift would have happenned to provide any barrier to viable offspring being

produced. Hence all human populations today can successfully interbreed. If the length of time of separation is very long – let’s say 13 My or so, then so much genetic drift will have occurred so as to render any such F1 offspring unviable, even if no gross karyotypic change had occurred. So, orangutans and gorillas (presumably) cannot produce viable offspring even though they both have 48 chromosomes. My argument is that there must be a point in time, intermediate between these extremes, where interbreeding works, but only just. Sufficient genetic drift will causes the mechanics of meiosis to be interfered with, but not fatally so. It is in exactly this scenario that I suspect a hybridisation could produce an instantaneous speciation event – where the mutation doesn’t happen in one sex or another separately before the sex act, but actually during the fusion of the gametes after copulation. So, to use my hypothetical ever-so-slightly more aquatic hominids... if Homo maritimus (seaside man) male met Homo fluvensis female (riverside woman), both with their ancestral hominoid 48 chromosomes and, after a brief sexual encounter, something went slightly wrong with the meiotic fusion of the gametes, resulting in a telomeric fusion of two chromosomes to form a new chromosome number 2 (as seems to have happenned with H. sapiens) – this could result in a viable infant being born with 46 chromosomes in one simple, if rather fortuitous, step.

 

See this link for more detail on how this is proposed to have happenned.

Consider the improvements this model offers over the 47 chromosome intermediate idea:
1) The infant is viable from day one because it hasn’t got an odd number of chromosomes and because, it actually has very little difference in its karyotype from its parents other than the fact that two chromosomes got stuck together at the end of meiotic fusion. Odd numbers of chromosomes, in contrast, would in all probability be fatal very early in utero.

2) Because this infant was born on the edge of two, probably large and healthy populations, this kind of event would probably be very common. As long as the populations had been separated for sufficient time for the meiotic mechanism to be half-damaged, the scenario seems rather likely. Of course it is a rather massive assumption in my model that such a separation would lead to this kind of meiotic clanger happening on fusion, but I argue that it is still rather more feasible than the alternative.

Contrast this with the 47-er scenario: It assumes that a small bottleneck population becomes isolated; That for some unspecified reason a rare mutation occurs to fuse chromosomes in the gametes of one sex or another; That the offspring is viable, lives to maturity and is fertile; That at least four (assuming it is the F2 generation that finally have the 2n=46 condition) such individuals are born at the same time and place; That the breeding of the two 2n=47 individuals produces a 2n=46-er that is not only also viable and fertile but actually has relatively high selective fitness compared to its parental 2n=48-er ancestors (as it is destined to replace them) and that this happens quickly enough to rescue the bottleneck population from the brink of extinction.

3) The nascent 2n=46-ers would inevitably accumulate, as such events would be fairly common. It is likely that 2n=46-ers would be immediately genetically isolated from their 2n=48-er parental groups allowing the new karyotype to become quickly fixed in the population. 2n=46-ers could therefore start interbreeding almost immediately, soon producing a high degree of genetic variability from which selection would quickly select out the best trait combinations. This is an ideal scenario for punctuated evolution. It is well known that introgression is a force of increased diversity in hybrids. (see, e.g. Rieseberg et al (1999) and so, placed in such a context, a great deal of novel genetic material can be postulated to have been formed from which rapid selection would take place and from which saltatory changes in the human phenotype (e.g. encephalisation and language) could feasibly emerge. The 2n=47 chromosome idea, proposes almost the opposite scenario – very little genetic variability, very low fitness and no great genetic isolation between the new 2n=46 chromosome group and its parental populations.

I imagine that one objection to this hypothesis could be the same as my own: personal incredulity. But is it really more likely that a mutation to fuse two chromosomes should happen in one sex or another in isolation in the early phase of meiosis rather than in a later stage during fusion, when the two individuals have been separated for, say, 1.5 million years? I cannot see how one could argue so. In addition, at least the hybridisation model can argue that if sufficient interbreedings occur between two relatively large and healthy populations living adjacent to each other then the chances of this sort of scenario actually happening is multiplied greatly. By positing it in a low population bottleneck seems to make its likelihood, in comparison, vanishingly small.

So, I hope that clarifies my position.

The hybridisation idea is neither help nor hindrance to any form of AAH, other than it might explain why humans have some anomalous ‘aquatic’ traits which are rather odd. For example our tears are salty but nowhere near sufficient to act as any kind of excretory function. We appear to have lost our salt hunger but infants are highly sensitive to high levels of salt. It seems to me that these anomalies might be explained better if one of our ancestors was a more marine-coastal living hominid and another was more fresh-water living. And, of course, estuaries make perfect hybrid zones.

References

Grant, Verne (1971). Plant Speciation. Columbia University Press (New York)

Hubbs, C L (1955). Hybridization between fish species in nature. Systematic Zoology 4 1-20

Rieseberg, Loren H; Wayne, Robert K; Archer, Margaret A (1999). Transgressive segregation, adaptation and speciation. Heredity 83 :363-372