Project Paper

Human Genome Project

What is Human genome Project?
human genome, all of the approximately three billion base pairs of
deoxyribonucleic acid (DNA) that make up the entire set of chromosomes of
the human organism. The human genome includes the coding regions of DNA,
which encode all the genes (between 20,000 and 25,000) of the human
organism, as well as the noncoding regions of DNA, which do not encode any
genes. By 2003 the DNA sequence of the entire human genome was known.

The human genome, like the genomes of all other living animals, is a collection
of long polymers of DNA. These polymers are maintained in duplicate copy in
the form of chromosomes in every human cell and encode in their sequence
of constituent bases (guanine [G], adenine [A], thymine [T], and cytosine [C])
the details of the molecular and physical characteristics that form the
corresponding organism. The sequence of these polymers, their organization
and structure, and the chemical modifications they contain not only provide
the machinery needed to express the information held within the genome but
also provide the genome with the capability to replicate, repair, package, and
otherwise maintain itself. In addition, the genome is essential for the survival
of the human organism; without it no cell or tissue could live beyond a short
period of time. For example, red blood cells (erythrocytes), which live for only
about 120 days, and skin cells, which on average live for only about 17 days,
must be renewed to maintain the viability of the human body, and it is within
the genome that the fundamental information for the renewal of these cells,
and many other types of cells, is found.

The human genome is not uniform. Excepting identical (monozygous) twins,

no two humans on Earth share exactly the same genomic sequence. Further,
the human genome is not static. Subtle and sometimes not so subtle changes
arise with startling frequency. Some of these changes are neutral or even
advantageous; these are passed from parent to child and eventually become
commonplace in the population. Other changes may be detrimental, resulting
in reduced survival or decreased fertility of those individuals who harbour
them; these changes tend to be rare in the population. The genome of modern
humans, therefore, is a record of the trials and successes of the generations
that have come before. Reflected in the variation of the modern genome is the
range of diversity that underlies what are typical traits of the human species.
There is also evidence in the human genome of the continuing burden of
detrimental variations that sometimes lead to disease.

Knowledge of the human genome provides an understanding of the origin of

the human species, the relationships between subpopulations of humans, and
the health tendencies or disease risks of individual humans. Indeed, in the past
20 years knowledge of the sequence and structure of the human genome has
revolutionized many fields of study, including medicine, anthropology,
and forensics. With technological advances that enable inexpensive and
expanded access to genomic information, the amount of and the potential
applications for the information that is extracted from the human genome is
extraordinary.
Origin of Human Genome Project
Comparisons of specific DNA sequences between humans and their closest
living relative, the chimpanzee, reveal 99 percent identity, although the
homology drops to 96 percent if insertions and deletions in the organization of
those sequences are taken into account. This degree of sequence variation
between humans and chimpanzees is only about 10-fold greater than that seen
between two unrelated humans. From comparisons of the human genome with
the genomes of other species, it is clear that the genome of modern humans
shares common ancestry with the genomes of all other animals on the planet
and that the modern human genome arose between 150,000 and 300,000
years ago.
Ongoing collaboration between archaeologists, anthropologists, and molecular
geneticists at the Max Planck Institute in Germany and the Lawrence Berkeley
National Laboratory and the Joint Genome Institute in the United States has
enabled sequence comparisons between modern humans (Homo sapiens)
and Neanderthals (H. neanderthalensis). The data obtained so far
demonstrate that modern humans and Neanderthals share about 99.5 percent
genome sequence identity; some scientists have claimed that sequence identity
may actually be as high as 99.9 percent.

Research suggests that populations of H. sapiens split from H.

neanderthalensis ancestral populations perhaps as recently as 370,000 years
ago and likely shared a common ancestor some 500,000–700,000 years ago.
Genomic studies have indicated that there was almost no interbreeding
between H. sapiens and H. neanderthalensis. This suggests that when
Neanderthals, the last of the Homo relatives of modern humans, became
extinct about 30,000 years ago, only modern humans were left to populate
Earth. However, other research has revealed that modern H. sapiens in
Eurasia, specifically peoples in Europe, China, and Papua New Guinea, have
genomes that are more similar to the Neanderthal genome than they are to the
genomes of modern H. sapiens in Africa. Scientists estimate that 1 to 4 percent
of DNA of modern Eurasians is shared with Neanderthals, a level of similarity
that is not found between Neanderthals and modern Africans. These findings
indicate that limited interbreeding and gene flow took place between
Neanderthals and ancestral H. sapiens populations after the latter migrated
out of Africa but before they dispersed to other parts of the world.

Comparing the DNA sequences of groups of modern humans from different

continents also allows scientists to define the relationships and even the ages
of these different populations. By combining these genetic data with
archeological and linguistic information, anthropologists have been able to
discern the origins of Homo sapiens in Africa and to track the timing and
location of the waves of human migration out of Africa that led to the eventual
spread of humans to other continents of the globe. For example, genetic
evidence indicates that the first humans migrated out of Africa approximately
60,000 years ago, settling in southern Europe, the Middle East, southern Asia,
and Australia. From there, subsequent and sequential migrations brought
humans to northern Eurasia and across what was then a land bridge to North
America and finally to South America.
Social impacts of human
genome research
Databases have been compiled that list and
summarize specific DNA variations that are
common in certain human populations but
not in others. Because the underlying DNA
sequences are passed from parent to child in a
stable manner, these genetic variations
provide a tool for distinguishing the members
of one population from those of the other.
Public genetic ancestry projects, in which Lorem ipsum
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analyzed, have allowed individuals to trace amet, cu option
the continental or even subcontinental origins
of their most ancient ancestors. vim possim
The role of genetics in defining traits and health risks
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for individuals has been recognized for generations.
Long before DNA or genomes were understood, it was
clear that many traits tended to run in families and
that family history was one of the strongest predictors
of health or disease. Knowledge of the human genome
has advanced that realization, enabling studies that
have identified the genes and even specific sequence
variations that contribute to a multitude of traits and
disease risks. With this information in hand, health
care professionals are able to practice predictive
medicine, which translates in the best of scenarios to
preventative medicine. Indeed, presymptomatic
genetic diagnoses have enabled countless people to
live longer and healthier lives. For example,
mutations responsible for familial cancers of
the breast and colon have been identified, enabling
presymptomatic testing of individuals in at-risk
families. Individuals who carry the mutant gene or
genes are counseled to seek heightened surveillance.
In this way, if and when cancer appears, these
individuals can be diagnosed early, when the cancers
are most effectively treated.
Impact of Human Genome Project

The public availability of a complete

human genome sequence represented a
defining moment for both the
biomedical community and for society. In
the years since completion of the HGP,
the human genome database, together
with other publicly available resources
such as the HapMap database, has
enabled the identification of a variety of
genes that are associated with disease.
This, in turn, has enabled more objective
and accurate diagnoses, in some cases
even before the onset of overt clinical
symptoms. Association and linkage
studies have identified additional genetic
influences that modify the development
or outcome for both rare and common
diseases. The recognition that human
genomes may influence everything from
disease risk to physiological response to
medications has led to the emergence of
the concept of personalized medicine—
the idea that knowledge of a patient’s
entire genome sequence will give health
care providers the ability to deliver the
most appropriate and effective care for
that patient. Indeed, continuing advances
in DNA sequencing technology promise
to lower the cost of sequencing an
individual’s entire genome to that of
other, relatively inexpensive, diagnostic
tests.
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