This article has been cited by other articles in PMC. Abstract The Human Genome Project has transformed biology through its integrated big science approach to deciphering a reference human genome sequence along with the complete sequences of key model organisms.
See Article History Alternative Title: HGP Human Genome Project HGPan international collaboration that successfully determined, stored, and rendered publicly available the sequences of almost all the genetic content of the chromosomes of the human organism, otherwise known as the human genome.
The Human Genome Project HGPwhich operated from toprovided researchers with basic information about the sequences of the three billion chemical base pairs i. The HGP was further intended to improve the technologies needed to interpret and analyze genomic sequences, to identify all the genes encoded in human DNA, and to address the ethicallegal, and social implications that might arise from defining the entire human genomic sequence.
Timeline of the HGP Prior to the HGP, the base sequences of numerous human genes had been determined through contributions made by many individual scientists. However, the vast majority of the human genome remained unexplored, and researchers, having recognized the necessity and value of having at hand the basic information of the human genomic sequence, were beginning to search for ways to uncover this information more quickly.
Because the HGP required billions of dollars that would inevitably be taken away from traditional biomedical research, many scientists, politicians, and ethicists became involved in vigorous debates over the merits, risks, and relative costs of sequencing the entire human genome in one concerted undertaking.
Despite the controversy, the HGP was initiated in under the leadership of American geneticist Francis Collinswith support from the U. The effort was soon joined by scientists from around the world.
Moreover, a series of technical advances in the sequencing process itself and in the computer hardware and software used to track and analyze the resulting data enabled rapid progress of the project.
Deoxyribose sugar molecules and phosphate molecules form the outer edges of the DNA double helix, and base pairs bind the two strands to one another. Technological advance, however, was only one of the forces driving the pace of discovery of the HGP.
Craig Venterbegan to compete with and potentially undermine the publicly funded HGP. At the heart of the competition was the prospect of gaining control over potential patents on the genome sequence, which was considered a pharmaceutical treasure trove.
Although the legal and financial reasons remain unclear, the rivalry between Celera and the NIH ended when they joined forces, thus speeding completion of the rough draft sequence of the human genome.
The completion of the rough draft was announced in June by Collins and Venter. For the next three years, the rough draft sequence was refined, extended, and further analyzed, and in Aprilcoinciding with the 50th anniversary of the publication that described the double-helical structure of DNA, written by British biophysicist Francis Crick and American geneticist and biophysicist James D.
Watsonthe HGP was declared complete. Science behind the HGP To appreciate the magnitude, challenge, and implications of the HGP, it is important first to consider the foundation of science upon which it was based—the fields of classical, molecular, and human genetics.
Classical genetics is considered to have begun in the mids with the work of Austrian botanist, teacher, and Augustinian prelate Gregor Mendelwho defined the basic laws of genetics in his studies of the garden pea Pisum sativum. Mendel succeeded in explaining that, for any given geneoffspring inherit from each parent one form, or alleleof a gene.
In addition, the allele that an offspring inherits from a parent for one gene is independent of the allele inherited from that parent for another gene. Each species has a unique set of chromosomes. These chromosomes, together with mitochondrial DNA, make up an organism's genome.
For example, molecular genetics studies demonstrated that two alleles can be codominant characteristics of both alleles of a gene are expressed and that not all traits are defined by single genes; in fact, many traits reflect the combined influences of numerous genes.
The field of molecular genetics emerged from the realization that DNA and RNA ribonucleic acid constitute the genetic material in all living things. In physical terms, a gene is a discrete stretch of nucleotides within a DNA molecule, with each nucleotide containing an A, G, T, or C base unit.
It is the specific sequence of these bases that encodes the information contained in the gene and that is ultimately translated into a final product, a molecule of protein or in some cases a molecule of RNA.
The protein or RNA product may have a structural role or a regulatory role, or it may serve as an enzyme to promote the formation or metabolism of other molecules, including carbohydrates and lipids.
All these molecules work in concert to maintain the processes required for life. Molecular genetics emerged from the realization that DNA and RNA constitute the genetic material of all living organisms.
Studies in molecular genetics led to studies in human genetics and the consideration of the ways in which traits in humans are inherited. For example, most traits in humans and other species result from a combination of genetic and environmental influences.
In addition, some genes, such as those encoded at neighbouring spots on a single chromosome, tend to be inherited together, rather than independently, whereas other genes, namely those encoded on the mitochondrial genome, are inherited only from the mother, and yet other genes, encoded on the Y chromosome, are passed only from fathers to sons.Nov 13, · The Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains.
The Project was coordinated by the National Institutes of Health and the U.S. Department of Energy. Genome Research is an international, continuously published, peer-reviewed journal that features outstanding original research providing novel insights into the genome biology of all organisms, including significant advances in genomic medicine.
The journal also provides high-quality reviews and perspectives written by respected leaders in the field . Jul 12, · The Human Genome Project (HGP) endeavoured to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in .
This resource organizes information on genomes including sequences, maps, chromosomes, assemblies, and annotations. The National Human Genome Research Institute (NHGRI) was established originally as the National Center for Human Genome Research in to lead the International Human Genome Project.
NHGRI is part of the National Institutes of Health (NIH), the nation’s medical research agency. The National Human Genome Research Institute conducts genetic and genomic research, funds genetic and genomic research and promotes that research to advance genomics in health care.