The Human Genome Project

The Human Genome spew (HGP) is a regorge undertaken with a address to understand the cistrontic make-up of the forgiving species by find the deoxyribonucleic acid time of the gay genome and the genome of a hardly a(prenominal) model organisms. The project began in 1990 and, by some definitions, it was transactd in 2003. It was one of the biggest investigational projects in the history of science. The mapping of the kind-hearted genes was an meaning(a) musical note in the ruinment of medicines and separate aspects of health c ar.Most of the genome deoxyribonucleic acid sequencing for the Human Genome range was done by researchers at universities and research centers in the the United States and out rest Britain, with some otherwise genome desoxyribonucleic acid sequencing done independently by the private fraternity Celera Genomics. The HGP was origin tot entirelyyy aimed at the more than three one million million million nucleotides conveyed in a haploid ref erence homosexual genome. Recently some(prenominal) groups assimilate announced parturiencys to extend this to diploid clement genomes including the gentlemans gentleman-wide HapMap Project, Applied Biosystems, Perlegen, Illumina, JCVI, Personal Genome Project, and Roche-454.The genome of entirely given individual (except for identical twins and cloned animals) is incomparable mapping the sympathetickind genome involves sequencing quadruple transitions of apiece gene. The project did not understand whole of the deoxyribonucleic acid found in compassionate cells some heterochromatic aras ( or so 8% of the total) remain un- taking overd. International HGP Initiation of the Project was the culmination of several geezerhood of wee support by the department of Energy, in particular workshops in 1984 1 and 1986 and a later(prenominal) hatchway the Department of Energy. 2 This 1986 report stated boldly, The ultimate goal of this initiative is to understand the huma n genome and Know directge of the human genome is as necessary to the proceed progress of medicine and other health sciences as fill outledge of human anatomy has been for the present state of medicine. Candi run across technologies were already being considered for the proposed labor movement at least as early as 1985. 3 James D. Watson was transport of the National nubble for Human Genome Research at the National takes of health (NIH) in the United States starting from 1988.Largely due to his disagreement with his boss, Bernadine Healy, over the ply of patenting genes, he was forced to resign in 1992. He was replaced by Francis collins in April 1993, and the name of the Center was changed to the National Human Genome Research Institute (NHGRI) in 1997. The $3-billion project was formally founded in 1990 by the United States Department of Energy and the U. S. National Institutes of Health, and was expected to take 15 years. In accompaniment to the United States, the exter nal consortium comprised communicableists in China, France, Ger some(prenominal), Japan, and the United Kingdom.Due to widespread world-wide cooperation and advances in the field of genomics (especially in succession analysis), as hygienic as major advances in computing technology, a rough compose of the genome was finished in 2000 (announced jointly by hence US president Bill Clinton and British Prime Minister Tony Blair on June 26, 2000). 4 Ongoing sequencing led to the announcement of the basically exculpate genome in April 2003, 2 years earlier than planned. 5 In may 2006, another milestone was passed on the way to completion of the project, when the sequence of the give out chromosome was produce in the diary nature. 6 There be multiple definitions of the complete sequence of the human genome. According to some of these definitions, the genome has already been completely sequenced, and consort to other definitions, the genome has yet to be completely sequenced. There have been multiple popular press articles reporting that the genome was complete. The genome has been completely sequenced exploitation the definition employ by the International Human Genome Project. A graphical history of the human genome project aims that most of the human genome was complete by the end of 2003.However, thither are a enumerate of regions of the human genome that evict be considered unfinished. First, the central regions of severally chromosome, cognise as centromeres, are super repetitive deoxyribonucleic acid sequences that are difficult to sequence using current technology. The centromeres are millions (possibly tens of millions) of free- hateful pairs long, and for the most part these are entirely un-sequenced. Second, the ends of the chromosomes, called telomeres, are in addition highly repetitive, and for most of the 46 chromosome ends these too are incomplete.We do not know precisely how untold sequence remains before we r distri plainl yively the telomeres of each chromosome, scarcely as with the centromeres, current technology does not make it blowsy to get there. Third, there are several loci in each individuals genome that conduct members of multigene families that are difficult to disentangle with shotgun sequencing methodologies these multigene families often encode proteins important for immune functions. It is likely that the centromeres and telomeres willing remain un-sequenced until in the buff technology is unquestionable that facilitates their sequencing.Other than these regions, there remain a few dozen gaps scattered close to the genome, some of them rather large, yet there is hope that all these will be closed in the next couple of years. In compend our best estimates of total genome size indicate that about 92% of the genome has been end . Most of the remaining DNA is highly repetitive and unlikely to contain genes, but we cannot truly know until we sequence all of it. Understanding the functions of all the genes and their regulation is far from complete.The roles of junk DNA, the ontogenesis of the genome, the differences among individuals, and more other questions are lock the subject of intense study by laboratories all over the world. Goals The goals of the original HGP were not only to determine more than 3 billion base pairs in the human genome with a minimal fault rate, but withal to identify all the genes in this vast make out of information. This part of the project is still ongoing, although a preliminary count indicates about 30,000 genes in the human genome, which is fewer than predicted by many scientists.Another goal of the HGP was to develop faster, more efficient methods for DNA sequencing and sequence analysis and the transfer of these technologies to indus provide. The sequence of the human DNA is stored in databases available to anyone on the Internet. The U. S. National Center for Biotechnology Information (and sister organizations in Europe and Japan) ho enforce the gene sequence in a database kn hold as Genbank, along with sequences of known and hypothetical genes and proteins.Other organizations such as the University of California, Santa Cruz1, and Ensembl2 present additional data and observation and powerful tools for visualizing and searching it. Computer platforms have been developed to analyze the data, because the data themselves are difficult to interpret without such programs. The process of identifying the boundaries between genes and other features in raw DNA sequence is called genome annotation and is the domain of bioinformatics.While practised biologists make the best annotators, their work proceeds slowly, and computer programs are more and more utilize to meet the high- with with(predicate)put demands of genome sequencing projects. The best current technologies for annotation make use of statistical models that take advantage of parallels between DNA sequences and human language, using con cepts from computer science such as formal grammars. Another, often overlooked, goal of the HGP is the study of its ethical, legal, and social implications.It is important to research these issues and find the most impound solutions before they be issue large dilemmas whose effect will manifest in the form of major political concerns. All humans have unique gene sequences therefore the data published by the HGP does not range the exact sequence of each and every individuals genome. It is the combine genome of a minuscule number of anonymous donors. The HGP genome is a scaffold for future work in identifying differences among individuals. Most of the current effort in identifying differences among individuals involves oneness nucleotide polymorphisms and the HapMap.How it was sodding(a) Funding came from the US government by means of the National Institutes of Health in the United States, and the UK charity, the Wellcome Trust, who funded the Sanger Institute ( consequently th e Sanger Centre) in Great Britain, as well as numerous other groups from most the world. The genome was broken into smaller pieces approximately 150,000 base pairs in duration. These pieces are called bacterial celluloid chromosomes, or BACs, because they can be inserted into bacteria where they are copied by the bacterial DNA replication machinery.Each of these pieces was and so sequenced separately as a small shotgun project and then assembled. The larger, 150,000 base pairs go together to create chromosomes. This is known as the graded shotgun barbel, because the genome is starting signal broken into relatively large chunks, which are then mapped to chromosomes before being selected for sequencing. Celera Genomics HGP In 1998, a similar, privately funded quest was launched by the American researcher Craig Venter and his stiff Celera Genomics.The $300 million Celera effort was intended to proceed at a faster pace and at a fraction of the cost of the roughly $3 billion publi cly funded project. Celera utilize a riskier technique called whole genome shotgun sequencing, which had been used to sequence bacterial genomes of up to six million base pairs in length, but not for anything nearly as large as the three megabyte million base pair human genome. Celera ab initio announced that it would try patent protection on only 200-300 genes, but later revise this to sympathizeking intellectual property protection on fully-characterized important structures amounting to 100-300 targets.The firm eventually filed preliminary (place-holder) patent applications on 6, cholecalciferol whole or incomplete genes. Celera too promised to publish their findings in accordance with the terms of the 1996 Bermuda Statement, by releasing tonic data quarterly (the HGP released its new data daily), although, unlike the publicly funded project, they would not permit free redistribution or commercial use of the data. In March 2000, President Clinton announced that the genom e sequence could not be patented, and should be made freely available to all researchers.The statement sent Celeras pedigree plummeting and dragged deal the biotechnology-heavy Nasdaq. The biotechnology sector lost about $50 billion in market capitalization in two days. Although the working draft was announced in June 2000, it was not until February 2001 that Celera and the HGP scientists published details of their drafts. Special issues of Nature (which published the publicly funded projects scientific paper)7 and Science (which published Celeras paper8) described the methods used to produce the draft sequence and offered analysis of the sequence.These drafts covered about 83% of the genome (90% of the euchromatic regions with 150,000 gaps and the order and orientation of many segments not yet established). In February 2001, at the time of the joint publications, press releases announced that the project had been completed by some(prenominal) groups. Improved drafts were announc ed in 2003 and 2005, filling in to 92% of the sequence currently. The competition proved to be very good for the project, promote the public groups to modify their strategy in order to accelerate progress. The rivals initially agreed to pool their data, but the agreement ell apart when Celera refused to deposit its data in the unrestricted public database GenBank. Celera had incorporated the public data into their genome, but forbade the public effort to use Celera data. HGP is the most well known of many international genome projects aimed at sequencing the DNA of a specific organism. While the human DNA sequence offers the most tangible bene set(p)s, important developments in biology and medicine are predicted as a result of the sequencing of model organisms, including mice, increase flies, zebrafish, yeast, nematodes, plants, and many microbial organisms and parasites.In 2004, researchers from the International Human Genome Sequencing Consortium (IHGSC) of the HGP announced a new estimate of 20,000 to 25,000 genes in the human genome. 9 Previously 30,000 to 40,000 had been predicted, while estimates at the start of the project reached up to as high as 2,000,000. The number continues to fluctuate and it is now expected that it will take many years to agree on a precise value for the number of genes in the human genome. History In 1976, the genome of the virus Bacteriophage MS2 was the firstborn complete genome to be determined, by Walter Fiers and his team at the University of Ghent (Ghent, Belgium). 10 The idea for the shotgun technique came from the use of an algorithm that combined sequence information from many small fragments of DNA to reconstruct a genome. This technique was pioneered by Frederick Sanger to sequence the genome of the Phage ? -X174, a tiny virus called a bacteriophage that was the first fully sequenced genome (DNA-sequence) in 1977. 11 The technique was called shotgun sequencing because the genome was broken into millions of pieces as if it had been cursed with a shotgun.In order to scale up the method, both the sequencing and genome assembly had to be alter, as they were in the 1980s. Those techniques were shown applicable to sequencing of the first free-living bacterial genome (1. 8 million base pairs) of Haemophilus influenzae in 1995 12 and the first animal genome (100 Mbp) 13 It knobbed the use of modify sequencers, longer individual sequences using approximately 500 base pairs at that time. Paired sequences separated by a immovable distance of rough 2000 base pairs which were critical elements enabling the development f the first genome assembly programs for reconstruction of large regions of genomes (aka contigs). Three years later, in 1998, the announcement by the newly-formed Celera Genomics that it would scale up the shotgun sequencing method to the human genome was greeted with skepticism in some circles. The shotgun technique breaks the DNA into fragments of various sizes, ranging from 2,000 to 300,000 base pairs in length, forming what is called a DNA library. Using an automated DNA sequencer the DNA is read in 800bp lengths from both ends of each fragment.Using a complex genome assembly algorithm and a supercomputer, the pieces are combined and the genome can be reconstructed from the millions of short, 800 base pair fragments. The success of both the public and privately funded effort hinged upon a new, more highly automated capillary DNA sequencing machine, called the Applied Biosystems 3700, that ran the DNA sequences through an extremely o.k. capillary tube rather than a flat gel. Even more critical was the development of a new, larger-scale genome assembly program, which could handle the 30-50 million sequences that would be required to sequence the entire human genome with this method.At the time, such a program did not exist. matchless of the first major projects at Celera Genomics was the development of this assembler, which was indite in parallel with the construction of a large, highly automated genome sequencing factory. The first version of this assembler was demonstrated in 2000, when the Celera team joined forces with professor Gerald Rubin to sequence the fruit fly Drosophila melanogaster using the whole-genome shotgun method14. At 130 million base pairs, it was at least 10 clock larger than any genome previously shotgun assembled.One year later, the Celera team published their assembly of the three billion base pair human genome. How it was thoroughgoing(a) The IHGSC used pair-end sequencing plus whole-genome shotgun mapping of large (100 Kbp) plasmid DNA clones and shotgun sequencing of smaller plasmid sub-clones plus a variety of other mapping data to orient and check the assembly of each human chromosome7. The Celera group tried whole-genome shotgun sequencing without using the additional mapping scaffolding8, but by including shredded public data raised questions 15.Whose genome was sequenced? In the IHGSC internation al public-sector Human Genome Project (HGP), researchers quiet downslope (female) or sperm (male) samples from a large number of donors. Only a few of many collected samples were processed as DNA resources. Thus the donor identities were protected so neither donors nor scientists could know whose DNA was sequenced. DNA clones from many distinct libraries were used in the overall project, with most of those libraries being created by Dr.Pieter J. de Jong. It has been informally reported, and is well known in the genomics community, that much of the DNA for the public HGP came from a bingle anonymous male donor from Buffalo, New York (code name RP11). 16 HGP scientists used unobjectionable blood cells from the blood of 2 male and 2 female donors (randomly selected from 20 of each) each donor yielding a separate DNA library. One of these libraries (RP11) was used considerably more than others, due to quality considerations.One minor technical foul issue is that male samples conta in only half as much DNA from the X and Y chromosomes as from the other 22 chromosomes (the autosomes) this happens because each male cell contains only one X and one Y chromosome, not two like other chromosomes (autosomes). (This is true for nearly all male cells not just sperm cells). Although the main sequencing phase of the HGP has been completed, stu intermits of DNA variation continue in the International HapMap Project, whose goal is to identify patterns of wholeness nucleotide polymorphism (SNP) groups (called haplo tokens, or haps).The DNA samples for the HapMap came from a total of 270 individuals Yoruba large number in Ibadan, Nigeria Japanese people in Tokyo Han Chinese in Beijing and the French Centre dEtude du Polymorphisms Humain (CEPH) resource, which consisted of residents of the United States having ancestry from westbound and Northern Europe. In the Celera Genomics private-sector project, DNA from five different individuals were used for sequencing. The draw s cientist of Celera Genomics at that time, Craig Venter, later acknowledged (in a public letter to the journal Science) that his DNA was one of those in the pool17.On September 4th, 2007, a team led by Craig Venter, published his complete DNA sequence18, unveiling the six-billion-letter genome of a single individual for the first time. Benefits The work on interpretation of genome data is still in its initial stages. It is anticipated that detailed knowledge of the human genome will provide new avenues for advances in medicine and biotechnology. Clear practical results of the project emerged even before the work was finished.For example, a number of companies, such as Myriad Genetics started offering easy ways to administer genetic tests that can show predisposition to a variety of illnesses, including breast cancer, disorders of hemostasis, cystic fibrosis, liver diseases and many others. Also, the etiologies for cancers, Alzheimers disease and other areas of clinical interest are c onsidered likely to benefit from genome information and possibly may lead in the long term to hearty advances in their management. There are also many tangible benefits for biological scientists.For example, a researcher investigating a certain form of cancer may have narrowed down his/her search to a particular gene. By visiting the human genome database on the worldwide web, this researcher can examine what other scientists have scripted about this gene, including (potentially) the three-dimensional structure of its product, its function(s), its evolutionary relationships to other human genes, or to genes in mice or yeast or fruit flies, possible deleterious mutations, interactions with other genes, body tissues in which this gene is activated, diseases associated with this gene or other datatypes.Further, deeper understanding of the disease processes at the level of molecular biology may determine new therapeutic procedures. Given the established importance of DNA in molecular biology and its central role in determining the fundamental operation of cellular processes, it is likely that expanded knowledge in this area will facilitate medical advances in numerous areas of clinical interest that may not have been possible without them. The analysis of similarities between DNA sequences from different organisms is also opening new avenues in the study of the theory of evolution.In many cases, evolutionary questions can now be close in in terms of molecular biology indeed, many major evolutionary milestones (the emergence of the ribosome and organelles, the development of embryos with body plans, the vertebrate immune system) can be related to the molecular level. Many questions about the similarities and differences between humans and our surrounding(prenominal) relatives (the primates, and indeed the other mammals) are expected to be illuminated by the data from this project.The Human Genome Diversity Project, spinoff research aimed at mapping the DNA that varies between human ethnic groups, which was rumored to have been halted, actually did continue and to date has yielded new conclusions. In the future, HGDP could possibly expose new data in disease surveillance, human development and anthropology. HGDP could unlock secrets behind and create new strategies for managing the vulner cleverness of ethnic groups to certain diseases (see race in biomedicine). It could also show how human populations have fited to these vulnerabilities.The Human Genome ProjectWhen populations start to die there are only so many to choose from for genes. A founder effect will then be created (Welsch 73). The Human Genome Project set out to identify all the genetic material in humans (Welsch 265). Another type of variation is different from genes it is physiological. Our blood type is a protein on our red blood cells and delivers oxygen and immune responses ( Welsch 267).We are only able to give blood to those who have our kindred blood type unless we ha ve the blood type that is the universal donor. We have a friend who has suffered miscarriages, the most recent was 26 weeks along. Her body keeps rejecting the baby and they are not sealed what the cause is. They are sure that it is not the RH factor.The white blood cells also have their own set of proteins, the human leukocyte antigen system (HLA). This system protects our bodies from foreign objects or infectious agents (Welsch 268). Even indoors our families we are varied because we will not all have the same conspiracy of the system. We all react to transmissions and diseases differently. My husband is highly allergic to artificial smells. His system seems to be in overdrive.When he was in the military his hogwash mate sprayed scented aerosol deodorant and his throat closed up. He then realized he could not handle anything artificial. My friends cousin had a double lung transplant last year. Several months after her transplant she got an infection and her body rejected her new lungs and she passed away. I think her rejection to the new lungs was because of the differences in the HLA system of her body and the donors.Our bodies also adapt and look different from others in our skin tone and our body types. These traits are not as significant in our bodily functions but are varied nonetheless. W all can have different hair color, skin color, and shape and sizes. Our skin does not really have color, it has a pigment called melanin ( Welsch 271). Depending on where the psyche lived they may have more melanin production and have darker skin. Some can also be tall and skin or short and chubby.We quantity this through the anthropometry. It helps determine the variations we see. We put these measurements in the cormic index, which is sitting height to standing height ( Welsch 273). The intemembral index is the ratio of arm length to leg length (Welsch 273). Body fat is determined by the BMI or body fortune index. A person can be too skinny or too fat and h ave a BMI that is not healthy. Another variation is race. This our societys system for classifying people based on how they look. These differences are believed to reflect the substructure of genetic and biological differences.We also adapt to the environments we encounter. We can either provide our environment to change us or we can change the environment. To stretch out we have to figure out what needs to change and react accordingly. We have to have a certain plasticity. We all change during our lifetime and it comes just about from our surroundings. We can perform niche construction and make our environment able to our living conditions. On the farm my in laws own they do several things to insure their success.They have to give the cows shots to make sure they are healthy passable for reproduction and the babies will be healthy enough to be sold. They take care of the grass and the other parts of the primer coat to ensure the cows are fed during the spring, summer and fal l. They make sure that there is enough hay to feed them during the winter. As parents we have the ability to help our children adapt. To set them up for success in life as humans. We teach our children how to cook, clean, read, and write.The ability to care for themselves spans across generations. They will teach their own children these abilities to adapt and survive in the world around them. We pass this on to them through extra-genetic heritage. We have a new emergence of new species through speciation. Differences can be so vast that it becomes a totally different species. Such as the dog and the wolf. Both have canine but the wolf is considered a different species.Evolution takes place as we bonk different things in our culture. We have to adapt as our culture changes. The constructivist approach shows that our biology is a process of construction (Welsch 239). Our bodies work in combination with our genes to affect how genes can be expressed or epigenetic system of inheritanc e ( Welsch 240). When our genes are altered we can pass those down to our children affecting how their bodies work and how they behave.The way we raise our children affects how they will behave as adults. If we are nurturing, winning and kind to our children almost all of the time these will be the traits they induce unless they have something else going on biologically. If we behave negative with our children and this is all they see they will in turn possess those traits. This is the behavioral system of inheritance. We also store symbols and communicate them with others around us, showing the world our understanding through them.The symbols we use come from the symbolic system of inheritance. Through manipulating the world around us and changing the world around us it is important to our biocultural evolution. interpolate is an important part of who we are. Just as when we move into a new home, a new town, new school, and even a new business enterprise we change and construct the environment to fit our needs. We do certain things so we can fit in and feel comfortable. It allows us to thrive. We even try to change the land we live on.Another aspect of biocultural evolution is the evolution of our behaviors. Sociobiology explains our behaviors as related to our biological component (Welsch 245). Our behavior can also be influenced by the earth and social things going on around us. This comes from the human behavioral ecology (HBE) (Welsch 246). We adapt our behavior to our society so that we can fit and continue to evolve. Our behaviors are directly connected to our biological self.This comes from biological determinism (Welsch 247). Some of them come forward or (emergence) based on who we see and interact with in our daily lives. We adapt and change through our sustenance, moving to different places, and sometimes we even change our bodies through change to make ourselves fit in. Just like runway models who extreme diet and workout to be tiny enough to be considered for the runway. This shapes our cultures around the world and how we all view each other.Everyone in this world is so unique. No two people even family members will be completely identical. Our bodies adapt and varied through the generations to be continued successfully. We all try to fit in with our behaviors so that our true biological self can come forward. We need to be conscious in the things we teach our children because they will be the next generation and bring forth a new culture. workings CitedWelsch, Robert Louis, et al. Anthropology Asking Questions about Human Origins, Diversity, and Culture. Oxford University Press, 2017.