- Humans may have evolved during a few rapid bursts of
genetic change, according to a new study of the human genome, which challenges
the popular theory that evolution is a gradual process.
- Researchers studying human chromosome 2 have discovered
that the bulk of its DNA changes occurred in a relatively short period
of time and, since then, only minor alterations have occurred.
- This backs a theory called "punctuated equilibrium
which suggests that evolution actually occurred as a series of jumps with
long static periods between them.
- Evolutionary stages are marked by changes to the DNA
sequences on chromosomes. One of the ways in which chromosomes are altered
is through the duplications of sections of the chromosomes. These DNA fragments
may be duplicated and inserted back into the chromosome, resulting in two
copies of the section.
- Evan Eichler, associate professor of genomic sciences
at the University of Washington in Seattle, US, and colleagues looked at
duplicated DNA sequences on a specific section of chromosome 2, to compare
them with ape genomes and Old World monkey genomes. They expected to find
that duplications had occurred gradually over the last few million years.
- Instead, they found that the big duplications had occurred
in a short period of time, relatively speaking, after which only smaller
rearrangements occurred. Eichler found the bulk of the duplications were
present in the genomes of humans, chimpanzees, gorillas and orang-utans,
but were absent in Old World monkeys - such as baboons and macaques.
- Narrow window
- An analysis of the degree of chromosomal decay for this
section showed that the major duplications occurred in the narrow window
of evolutionary time between 20 million and 10 million years ago, after
human ancestors had split from Old World monkeys, but before the divergence
of humans and great apes.
- "It is unclear why [these duplication] events occurred
so frequently during this period of human and great ape evolutionary history.
It is also unclear as to why they suddenly cease, at least in this region
of chromosome 2," Eichler says.
- "Other regions may show different temporal biases.
The important implication here is that episodic bursts of activity challenge
the concept of gradual clock-like changes during the course of genome evolution,"
- "Since duplications are important in the birth of
new genes and large-scale chromosomal rearrangements, it may follow that
these processes may have gone through similar episodes of activity followed
- Growing evidence
- Laurence Hurst, professor of evolutionary biology at
the University of Bath in the UK, says the study was very interesting,
although he would like to see this "punctuated evolution" demonstrated
for other chromosomes, to be more confident that this is a general pattern.
- "There is growing evidence that evolutionary processes
may occur in bursts. We now know, for example, that 50 million years ago
there was a burst of activity that resulted in lots of new genes being
produced," he told New Scientist.
- It is unknown what effect the sudden duplication activity
may have had on chromosome 2. Eichler theorises that it may have resulted
in genes for increased brain size or pathogen evasion. "If specific
regions of chromosomes can have very punctuated events, it means our models
based on gradual evolution are probably wrong," he says.
- The group will continue looking at the chromosome duplications
to try and correlate them with changes in gene function or expression.
- - Journal reference: Genome Research (vol 15, p 914)
- © Copyright Reed Business Information Ltd.