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DNA Evidence: Human Chromosome 2 Fusion

 

     When Darwin published his "abstract", On the Origin of Species by Natural Selection in 1859 he purposely left out any real mention of human evolution.  The co-presenter of natural selection, Wallace, could never bring himself to include one last species holdout that would apply to evolution, but Darwin knew where his theory led and he later predicted that African fossil evidence would be found in the future supporting human evolution.  In the last few decades researchers have added to the now rich fossil record of human evolution with one of the best evidences for human evolution, that of human chromosome 2 fusion.

     It was not until 1953 that Watson and Crick finally were able to demonstrate that DNA was the molecule of heredity and not proteins.  A few years later, in 1958, scientists finally had microscope techniques advanced enough to determine that humans had 46 chromosomes.  Soon after, it became clear that all the other apes had 48 chromosomes. This was a significant problem for evolution at the time since to loose 2 chromosomes would have been catastrophic and it remained to be discovered how this could have occurred if evolution were true.

   

 Around 1980 better staining techniques allowed researchers to compare the banding areas on various chromosomes and it became apparent that when all the apes and human chromosomes were compared the banding patterns between chimps and human chromosomes were nearly identical.

 

 

The "H" stands for human and "C"

stands for chimp.  The matching bands

alone speak to common ancestry.  An

objection may be put forward that a

designer just used some of the same

parts, but that is a very poor argument

for the following reasons.  Genes along

the chromosome do not need to be in

any particular order.  Inversions, where

a section of chromosome is swapped

end to end, occur frequently. Examples

include the chromosome 5 inversion

between chimps and humans at p14.I

to q14.I**.  Secondly,  recombination

occurs at meiosis to exchange parts of

chromosomes millions of times per day

as new cells are made.Third, entire parts

of chromosomes can be exchanged; one

example is translocations.  Basically,

one chromosome becomes attached to

another,  giving the person affected 45

chromosomes instead of 46. Since they

still have all their DNA, they appear

normal until they try and have children.

Translocations occur in about 1:1000

live births. Thus, there is no reason

to have these identical banding patterns

matching unless we share an ancestor (##);

a designer would not be constrained to

put all the genes in the exact same locations.  

 

(** the bottom part of a chromosome is  q, top part p from the centromere constriction)

 

     Looking at the diagram above, one can see that in order to align all the bands, chimp chromosomes 12 and 13 need to be placed along side human chromosome 2.  Note also that one of the chimp chromosomes needs to be put upside down for the bands to match.  Could it be that human chromosome 2 is the result of a distant fusion of an ape ancestor's chromosomes 12 and 13?  If humans evolved from an ape ancestor, that would explain where the "missing" DNA went;  it didn't go anywhere but simply combined or fused in our distant past.  Better yet, predictions could now be made if a fusion took place. We should find on HC 2 as a result of a fusion two centomeres (one deactivated) and an old relic fused telomere area in the middle. Chromosomes have in the middle a centromere and the ends are capped by telomeres.

 

 

 

 

 

 

 

 

   

 

 

 

 

 

    As researchers continued to probe into this possibilty more clues surfaced. It also was noted that the HC  2 centromere lines up perfectly with chimp centromere 2p. In 1991 Ijdo et. al published a paper titled, "Origin of human chromosome 2: an ancestral telomere - telomere fusion." And in 1992 a non-functioning centromere was located on HC 2 and its location was a match for the centromere on chimp C 2p.  So we now knew which centromere remained active (2p) and which became a relic (the one on 2q) after the fusion.  Further discoveries led to the announcement in 2002 by Seattle researchers that the fusion site on HC 2 had been located. Finally, in a 2005 Nature article scientists located the precise location of a 36,000 stretch of DNA that was the inactivated centromere on HC 2.  It even had alpha satellite repeats, a hallmark of centromeres and was flanked by an abundance of DNA duplicates known as segmental duplication, also an indication of a "fossil centromere".  Notice how new all these discoveries are. It's no wonder that until recently few people knew about them. Scientists now had on HC 2 the location of the relic fused telomere and inactivated centromere and it all matched perfectly with the fusion hypothesis.  Below is a summary:

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

The significance of this discovery can be hardly understated. Over many decades an evolutionary puzzle was solved by many researchers working in labs all over the world. Darwin made a prediction that we would find evidence of an ape ancestor for humans.  The different chromosome numbers between humans and other apes posed a test for evolution, and evolution passed the test spectacularly. It did not need to come out like this - evolution could have failed to reveal the data to match the predictions. For a different visual explanation, see the following video:

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

     Furthermore, direct DNA analysis gives a date of about 6 - 7 million years ago when the fusion took place. This matches the pre-existing dates from the fossil record.  A last objection could be that a designer just decided to construct humans this way from a similar basic design. But that hypothesis can be tested.  For when we look at the accumulation of mutations in the fused telomere region, the large number present rules out a recent creation event and again matches a molecular clock estimate of 6 - 7 mya.

 

 

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hum-chimpchromosomes Chromosome2_merge Chromosome 2 Fusion Continued