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organized into DNA molecules—
nucleotides, which serve as the
alphabet for the language of life, are represented by just four
letters: A, C, G, and T, corresponding to adenine, cytosine, guanine,
and thymine. The nucleotide alphabet codes for the sequence of
amino acids the body will use to build proteins.
Combinations of three nucleotides indicate one of twenty
possible amino acids (for example, CCT codes for the amino acid
glycine), so sets of nucleotide triplets form the instructions that cells
use to build proteins. These proteins perform the work of the cells
from development throughout life, contributing to both our physical
attributes and many of our less tangible features, such as behavior,
learning, and predisposition to disease. A segment of a DNA
molecule that codes for one complete protein is called a gene. The
human genome is carried on 23 different chromosomes—or DNA
Genomes of other species contain more or fewer nucleotides
and chromosomes but follow the same basic organizational scheme
as the human genome.
In order to study this Human Genome in detail a mega project
called “The Human Genome Project” was undertaken.
Human Genome Project, international scientific effort to map
all of the genes on the 23 pairs of human chromosomes and, to
Further work continues on refining the sequencing of genes on chromosomes. because of differences in the genes identified by the teams. The Human Genome Project involved laboratories in the United States. indicating that they had identified an estimated 30. and a nematode worm. more refined estimate based on additional work on the genome was that there are between 20.000.000 genes instead of the expected 100.2 sequence the 3. and an inherited form of breast cancer.coli. Germany. and Japan. with a stated goal of completing the mapping of the genome in three years. constituting just 1% of the total human DNA. in order to study genetic similarities among species. the project decoded the genome of the bacterium E. Huntington's disease. Early in 2001 scientists from both teams jointly announced the completion of the mapping of the human genome. In the process. and ended in 2003 with 99% decoded. a fruit fly. eliminating the remaining gaps in the genome map.000 genes. It was financed in the United States by the National Institutes of Health and by the Department of Energy and in Great Britain by the Wellcome Trust of London. France. scientists identified genes for cystic fibrosis.1 billion DNA base pairs that make up the chromosomes. there may in fact be as many as 40.000 and 25. In addition. detailed analyses of all the pairs were published by 2006. neurofibromatosis. the project was largely completed in 2000 when 85% of the human genome was decoded. A subsequent. Begun in 1990 with the goal of enabling scientists to understand the basis of genetic diseases and to gain insight into human evolution. Great Britain. and the genome of a mouse was also decoded.000 human genes. Subsequent comparison of the two teams' data has indicated that. . A comparable project using new DNAsequencing machines was begun as a private industry venture in the United States in 1998.
Shortly thereafter. Department of Energy.3 and identifying the extent of variation in the human genome. for example. Venter's genome was the first individual full diploid human genome. In 1986.S. SIGNIFICANT FEATURES . Such studies have since provided the scientific basis for individual risk assessments of nuclear medicine technologies. Since 1945. convinced that DOE’s missions would be well served by a reference human genome sequence. DOE and Institutes the of National Health developed a plan for a joint HGP that officially began in 1990. In 2007 the first sequences of human individuals were released. DOE took a bold step in announcing its Human Genome Initiative. Department of Energy and its predecessor agencies have been charged by Congress with developing new energy resources and technologies and with pursuing a deeper understanding of potential health and environmental risks posed by their production and use. HISTORY The Human Genome Project traces its roots to an initiative in the U. including some extinct species. a database of publicly available genetic sequences from the genomes of plants and animals. The NIH's National Centre for Biotechnology Information maintains GenBank.
Scientists have identified about 1.25.000–much lower than previous estimates of 80. but they shed light on chromosome structure. and the Y has the fewest (231).40. Almost all (99.7 million nucleotide bases.4 million bases. GOALS The mega project had several important goals which are as follows: Identify all the approximately 20. Less than 2 per cent of the genome codes for proteins. The functions are unknown for over 50 per cent of the discovered genes. with the largest known human gene being dystrophin at 2. The total number of genes is estimated at 30.000 genes. sometimes hundred to thousand times.000 genes in human DNA. Repeated sequences make up very large portion of the human genome. They are thought to have no direct coding functions.000 to 1.4 Some of the significant observations drawn from human genome project are as follows: Human genome contains 3164. Chromosome 1 has most genes (2968). Repetitive sequences are stretches of DNA sequences that are repeated many times. dynamics and evolution. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history.9 per cent) nucleotide bases are exactly the same in all people. but sizes vary greatly. An average gene consist of 3000 bases.000 . .4 million locations where singlebase DNA differences (SNPs – single nucleotide polymorphism) occur in humans.
Transfer related technologies to other sectors. Improve tools for data analysis. The other approach is blind approach of simply sequencing the whole set of genome that contained all the coding and non-coding sequence. Store this information in databases. METHODOLOGIES The methods involved two major approaches: One approach focused on identifying all the genes that expressed as RNA referred as Expressed Sequence Tags (ESTs).000 base pairs.000. . Because the bases exist as pairs. SEQUENCING OF A GENOME Sequencing means determining the exact order of the base pairs in a segment of DNA. and the identity of one of the bases in the pair determines the other member of the pair. Address the ethical. and later assigning different regions in the sequence with functions. such as industries. Human chromosomes range in size from about 50.5 Determine the sequences of the 3 billion chemical base pairs that make up the human DNA.000. legal and social issues (ELSI) that may arise from the project.000 to 300. referred as Sequence Annotation.
a careful process was developed to recruit the volunteers and to collect and maintain the blood samples that were the source of the DNA. Cloning of DNA fragments can be performed by using cloning vectors like BAC (Bacterial Artificial chromosomes) and YAC (yeast artificial chromosomes). WHOSE DNA WAS SEQUENCED FOR THE HUMAN GENOME PROJECT? This is intentionally not known to protect the volunteers who provided DNA samples for sequencing. The volunteers responded to local public advertisements near the laboratories where the DNA libraries were prepared. The fragments were sequenced using automated DNA sequencers that worked on the principle of a method developed by Frederick Sanger. The volunteers blood provided samples after being extensively counselled and giving their then informed . To ensure that the identities of the volunteers cannot be revealed.6 Steps involved in the sequencing of a genome: Isolation of total DNA from a cell and converted into random fragments of relatively smaller size. The sequence is derived from the DNA of several volunteers. These sequences were then arranged based on some overlapping regions present in them. Candidates were recruited from a diverse population.
7 consent. For example. and some forms of mental illness. About 5 to 10 times as many volunteers donated blood as were eventually used. The human genome has at least 10 million SNPs. Scientists believe such SNP maps will help them identify the multiple genes associated with such complex diseases as cancer. which can occur in genes as well as in non coding regions. so that not even the volunteers would know whether their sample was used. and toxins. All labels were removed before the actual samples were chosen. SNP maps provide valuable targets for biomedical and pharmaceutical research. Researchers in public and private sectors are generating maps of these sites. viruses. Most of these SNPs contribute to human variation. often by a single base. influence some of them development may of . SNPs are sites in the human genome where individuals differ in their DNA sequence. vascular disease. One of the most common types of sequence variation is the single nucleotide polymorphism (SNP). one person might have the base A (adenine) where another might have C (cytosine). They also impact our reactions to drugs and other therapies. and so on. SINGLE NUCLEOTIDE POLYMORPHISM Slight variations in our DNA sequences can have a major impact on whether or not we develop a disease and on our particular responses to such environmental insults as bacteria. diabetes.
TECHNICAL ASPECTS The process of determining the human genome involves first mapping. To be useful in mapping. This is called a physical map. and then ordering them to correspond to their respective chromosomal locations. Markers are any inherited physical or molecular characteristics that are different among individuals of a population. maps are needed. This variability gives individuals unique VNTR regions. susceptibility to certain drugs. These are genetic maps. A . VNTRs are prevalent in human DNA and can exist in wide variance of numbers. Mapping involves dividing the chromosomes into fragments that can be propagated and characterized. Mapping Strategies To sequence the human genome. Physical maps are used to describe the DNA's chemical characteristics. markers must be polymorphic. which are small sections of repeating DNA. The next step is sequencing. or have more than one form among individuals so that they can be detectable in studies. or characterizing the chromosomes. Genetic markers are invaluable for genome mapping. This is the application behind solving crime cases with blood samples. Another marker is Variable Numbers of Tandem Repeats (VNTR). An example of a marker includes restriction fragment length polymorphisms (RFLP). Physical maps are a series of overlapping pieces of DNA isolated in bacteria.8 diseases. toxins and infectious agents. RFLPs reflect sequence differences in DNA sites that can be cleaved by restriction enzymes. or determining the order of DNA bases on a chromosome.
it must be first amplified. and yeast cells. bacteria. Sequencing Strategies To sequence DNA. Used in RFLP markers are restriction enzymes. Different types of physical maps exist. DNA can be cut into many different fragments. These fragments are the DNA pieces used in physical maps. Low-resolution physical maps include chromosomal or cytogenetic maps that are based on distinctive banding patterns of stained chromosomes. With PCRs. High- resolution physical maps represent sets of DNA fragments that were cut by restriction enzymes and placed in order. Two types of DNA amplifications are: Cloning Polymerase Chain Reactions (PCR) Cloning involves the propagation of DNA fragments in a foreign host known as recombinant DNA technology. a task that would have taken days with recombinant DNA technology. or increased in quantity. Cloning provides an unlimited amount of DNA for experimental study. DNA can be amplified hundreds of millions of times in a matter of hours. DNA fragments isolated from restriction enzymes are united with a vector and then reproduced along with the vector's cell DNA. Vectors normally used are viruses. Since scientists have characterized hundreds of different restriction enzymes.9 genetic map shows the relative locations of these specific markers on chromosomes. PCR is . These enzymes recognize short sequences of DNA and cut them at specific sites.
In less than 90 minutes. Even fragments that have only . The result is two double helix strands from one double helix strand. The mixture is heated. For these reasons. PCR impacts on genetic has clinical disease had major medicine. Two basic approaches are: Maxam-Gilbert sequencing Sanger sequencing Both methods are successful because gel electrophoresis can produce high-resolution separations of DNA molecules. separating the two strands in a double-stranded DNA molecule. PCR is a process through which a specialized polymerase enzyme synthesizes a complementary strand of DNA to a separate given strand of DNA in a mixture of DNA bases and DNA fragments. the DNA fragments in the mixture find and bind to their complementary sequences on the now separated strands. and evolutionary biology. PCR cycles can amplify DNA by a million fold. Repeated heating and cooling cycles in PCR machines amplify the target DNA exponentially. and capable of amplifying very small amounts of DNA.10 valuable because the reaction is highly specific. The mixture is then cooled and through the action of the polymerase enzyme. easily automated. forensic science. Now that the DNA has been amplified. sequencing can begin. Electrophoresis is the process of using gels with stained DNA and then separating those DNA fragments according to size by the use of electric current through the gel. diagnosis.
To study gene expression in a specific tissue.000 bases per day.11 one single different nucleotide can be separated. in function and dysfunction. organ or tumor. also called chemical degradation method. A major goal of the HGP is to develop automated sequencing technology that can accurately sequence more than 100. . uses enzymes to synthesize DNA of varying length in four different reactions. WHY IS GENOME SEQUENCING IMPORTANT? Genome sequencing is important because of the below mentioned reasons: To obtain a ‘blueprint’ – DNA directs all the instructions needed for cell development and function. cleaves DNA at specific bases using chemicals. more sensitive. both. To study human variation. Sanger sequencing. accurate. and economical. Almost all of the steps in both of these sequences are now automated Maxam-Gilbert sequencing. and then determining the resulting fragment lengths. also called the chain termination or dideoxy method. stopping the replication at positions occupied by one of the four bases. DNA underlies almost every aspect of human health. To study how humans relate to other organisms. The result is different length fragments. Specific focuses include developing sequencing and detection schemes that are faster. A refinement to this method known as multiplex sequencing enables scientists to analyze approximately 40 clones on a single DNA sequencing gel.
1%. retinoblastoma. and neurofibromatosis. cystic fibrosis. as well as diseases and other traits that are common to man. and risk assessment. If other disease-related genes are isolated. Understanding these differences could lead to discovery of heritable diseases. scientists can begin to understand the structure and pathology of other disorders such as heart disease. types of inherited colon cancer. and diabetes. cancer. Alzheimer's disease. energy sources. medicine will look more into the fundamental causes of diseases rather than concentrating on treating symptoms. Current and potential applications of genome research will address national needs in molecular medicine. Well-publicized successes include the cloning of genes responsible for Duchenne muscular dystrophy. Increasingly detailed genomic maps have also aided researchers seeking genes associated with fragile X syndrome. Information gained from the HGP has already fuelled many positive discoveries in health care. and familial breast cancer.12 To find correlations how genome information relates to development of cancer. waste control and environmental cleanup. Molecular Medicine Through genetic research. This knowledge would lead to better medical management of these diseases and pharmaceutical discovery. susceptibility to certain diseases and drug metabolism (pharmacogenomics) APPLICATIONS Scientists estimate that chromosomes in the human population differ at about 0. biotechnology. Genetic screening will enable rapid and specific diagnostic tests making it possible to treat countless .
the DOE formulated the Microbial Genome Initiative to sequence the genomes of bacteria useful in the areas of energy production. Energy Sources Biotechnology. if the gene responsible for Huntington's disease is present. Sales of biotechnology products are projected to exceed $20 billion by the year 2000. it may be certain that symptoms will eventually occur. Resulting from that project. DNA-based tests clarify diagnosis quickly and enable geneticists to detect carriers within families. Genomic information can indicate the future likelihood of some diseases. cancer. six microbes that live under extreme temperature and pressure conditions have been sequenced. although predicting the exact time may not be possible. new the be important in improving the use of fossil-based resources. strengthened by the will biotechnology and promoted companies the HGP. researchers may be able to use the organisms and their enzymes for such practical purposes as waste control and environmental cleanup. immunotherapy techniques. and possible augmentation or replacement of defective genes through gene therapy. . The HGP has stimulated significant investment by large corporations development of hoping to capitalize on implications of HGP research. As an example.13 maladies. industry with a wealth of opportunities. By learning the unique protein structure of these microbes. and diabetes. environmental remediation. Medical researchers will be able to create therapeutic products based on new classes of drugs. Waste Control and Environmental Cleanup Through advances gained by the HGP. Biotechnology The potential for commercial development presents U. Other diseases where susceptibility may be determined include heart disease. and industrial processing. toxic waste reduction.S.
ETHICAL. More work must be done to determine the genetic basis of such variability. especially in terms of cancer risk. there is the possibility of developing entirely new biomass-based energy sources. but this knowledge will directly address the Department of Energy's long-term mission to understand the effects of low-level exposures to radiation and other energyrelated agents. Scientists know that genetic differences cause some people to be more susceptible than others to such agents. Biotechnology will help address these needs by providing a cleaner means for the bioconversion of raw materials to refined products. AND SOCIAL IMPLICATIONS ADDRESSED BY THE HUMAN GENOME PROJECT . Additional positive spin-offs from this research include a better understanding of biology. Having the genomic sequence of the methaneproducing microorganism Methanococcus jannaschii. increased development of pest-resistant and productive crops and livestock. for example. increased taxonomic understanding. will allow researchers to explore the process of methanogenesis in more detail and could lead to cheaper production of fuel-grade methane. Risk Assessment Understanding the human genome will have an enormous impact on the ability to assess risks posed to individuals by environmental exposure to toxic agents. LEGAL. and other commercially useful microorganisms.14 Increased energy demands require strategies to circumvent the many problems with today's dominant energy technologies. Additionally.
families. including the potential for genetic discrimination in employment and insurance. The ELSI program focused on the possible consequences of genomic research in four main areas: Privacy and fairness in the use of genetic information. Ethical issues surrounding the design and conduct of genetic research with people.15 The Ethical. and the public about genetics and the complex issues that result from genomic research. such as genetic testing. policy makers.400. A percentage of the Human Genome Project budget at the National Institutes of Health and the U. into the practice of clinical medicine. Advancement in this research can bring up new scope in the field of medicine. When the project began in 1990. the number of identified disease genes had risen to more than 1. students. Department of Energy was devoted to ELSI research. The integration of new genetic technologies. At the project's conclusion in 2003. and society. fewer than 100 human disease genes had been identified. CONCLUSION Medical researchers did not wait to use data from the Human Genome Project. The mission of the ELSI program was to identify and address issues raised by genomic research that would affect individuals. This project opened doors to a very . The Human Genome Project is focused on the DNA sequence of an individual. including the process of informed consent. Legal.S. The education of healthcare professionals. and Social Implications (ELSI) program was founded in 1990 as an integral part of the Human Genome Project.
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