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A scientific milestone
Scientists unravel genetic code for human chromosome 22
By Frank Gaglioti
20 December 1999
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The publication of the complete genetic code of the human chromosome
22 in the December 2 issue of the scientific journal Nature
is an important scientific achievement, which has enormous potential
for medical science and the study of human developmental biology
and evolution. It is the first human chromosome to be mapped by
the Human Genome Project and involved the collaborative efforts
of over 200 scientists from the United Kingdom, Japan, the United
States, Canada and Sweden.
The Human Genome Project has undertaken the sequencing of the
entire human genomethat is, the complete set of human chromosomesand
estimates that the task will be completed by 2003.
Dr. Ian Dunham at the Sanger Center at Cambridge in England,
who headed the research team said that this is the first
time we've really been able to see a whole human chromosome in
all its detailthe organisation of all of the genes and how
they relate to each other. Dr. Dunham also commented on
the significance of the international collaboration: It
is that strength which has let us to be able to reach this milestone.
Professor of Molecular Medicine at Hammersmith Hospital in
London, James Scott described the publication as a fantastic
resource for looking at human population genetics and disease
gene susceptibility in a way that has just not been really possible
until now.
The genetic map is being published on the Internet and updated
daily, as new sections of the genome are sequenced for the use
of the international scientific community. In fact, a paper copy
of the entire genome will probably never be published, as it would
take at least half a million pages to print.
The human genetic code is found in structures contained within
the nucleus of each cell known as chromosomes. Humans have 23
pairs of chromosomes, which contain the genetic instructions for
the human body. Chromosomes consist of tightly coiled strands
of the complex chemical deoxyribonucleic acid (DNA). DNA is made
up of two inter linked double helix chains of four chemical basesadenine,
thymine, guanine, and cytosine. The sequence of base pairs on
the two chains makes up the genetic code. The scientists have
unscrambled this code for chromosome 22.
The genetic sequence of the chromosome was determined by cutting
it up into sections, each of about 500 bases, which were then
inserted into the chromosome of either a yeast or bacteria cell.
The microorganism replicated the piece of DNA until the scientists
had sufficient quantities for sequencing. A sophisticated computer
model was then used to determine the order of the pieces on the
chromosome and to identify any genes.
Even though chromosome 22 is the second smallest human chromosome,
scientists had to sequence 33 million DNA bases. The chromosome
is known to contain at least 545 genes and possibly as many as
1,000. The precise function of most of the genes is still unknown.
The publication represents an important step forward for medical
science. The chromosome has been linked to 27 genetic diseases,
which are caused by defective genes on the chromosome. These include
schizophrenia, chronic myeloid leukaemia and trisomy 22, the second
most common cause of miscarriages. The chromosome has been implicated
in a number of cancers as well as disorders of the nervous system
and foetal development.
Scientists will be able to examine the evolution of the human
species in greater detail by comparing the structure of genes
and the chromosome itself in various organisms and examining how
they have changed over evolutionary history. Already one gene
on chromosome 22 has been found virtually unchanged in primitive
yeast cells. Why the structure of the gene should be preserved
over millions of years may provide important clues for evolutionary
scientists.
The new genetic map also provides developmental biologists
with a valuable tool. For the first time, they will be able to
follow human development from the level of the gene to the formation
of proteins, how these proteins interact to form cells and ultimately
a complete human being. Researchers will be able to study how
medical disorders develop at a molecular level and to devise techniques
to prevent the diseases developing in the first place.
The sequencing of chromosome 22 provides an indication of the
enormous scientific potential of this genetic research. The completion
of the Human Genome Project, providing a comprehensive map of
human genes, will certainly mark a key scientific turning point
and provide fresh impetus to what is already a profound revolution
in human biology and medical science.
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