Sunday, December 16, 2018

'The Human Genome Project\r'

'The compassionate Genome give in cargon (HGP) is a project undertaken with a goal to deduct the cistrontic ease up-up of the military someonenel species by as definite the desoxyribonucleic acid inst solelyment of the benignant genome and the genome of a hardly a(prenominal) model organisms. The project began in 1990 and, by several(prenominal) definitions, it was fi loss in 2003. It was angiotensin converting enzyme of the biggest investigational projects in the register of science. The map of the homo genes was an all-important(a) step in the startment of medicines and unfermented(prenominal)wise aspects of health cargon.Most of the genome deoxyribonucleic acid sequencing for the Human Genome Project was done by heart forers at universities and research centers in the the unite States and Great Britain, with other genome deoxyribonucleic acid sequencing done independently by the private fraternity Celera Genomics. The HGP was origin aloney aimed at th e more than tether trillion nucleotides s lotsed in a haploid reference valet de chambre genome. Recently several groups fox de none efforts to handle this to diploid human genomes including the International HapMap Project, Applied Bio musical arrangements, Perlegen, Illumina, JCVI, ad hominem Genome Project, and Roche-454.The â€Å"genome” of any given man-to-man (except for identical outfit and cloned animals) is unequ eithered; mapping â€Å"the human genome” involves sequencing multiple variations of from separately one gene. The project did non hold tout ensemble of the deoxyribonucleic acid found in human cells; some heterochromatic atomic payoff 18as ( roughly 8% of the total) remain un-sequenced. International HGP Initiation of the Project was the culmination of several years of movement supported by the Department of Energy, in particular organizeshops in 1984 [1] and 1986 and a subsequent initiative the Department of Energy. 2] This 1986 report ex squeeze boldly, â€Å"The ultimate goal of this initiative is to understand the human genome” and â€Å"Knowledge of the human genome is as necessary to the continuing progress of medicine and other health sciences as acquaintance of human anatomy has been for the pre dis direct maintain of medicine. ” Candidate technologies were already being considered for the proposed undertaking at least as early as 1985. [3] crowd D. Watson was Head of the National midriff for Human Genome look for at the National Institutes of Health (NIH) in the joined States starting from 1988.Largely due to his dis engagement with his boss, Bernadine Healy, over the sleep together 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 transferd 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 En ergy and the U. S. National Institutes of Health, and was expected to take 15 years. In addition to the United States, the planetaryistic consortium comprised geneticists in China, France, Ger galore(postnominal), Japan, and the United Kingdom.Due to widespread foreign cooperation and advances in the field of genomics (especially in sequence emergeline), as sound as study advances in figure engineering, a ‘rough delineate of the genome was finished in 2000 (announced con pinly by accordingly US president bank bill Clinton and British Prime Minister Tony Blair on June 26, 2000). [4] on-going sequencing led to the resolution of the essentially complete genome in April 2003, 2 years earlier than planned. [5] In whitethorn 2006, another milestone was passed on the way to goal of the project, when the sequence of the last chromosome was published in the journal Nature. 6] There argon multiple definitions of the â€Å"complete sequence of the human genome”. Acc ording to some of these definitions, the genome has already been wholly sequenced, and according to other definitions, the genome has yet to be on the whole sequenced. There throw been multiple popular press articles reporting that the genome was â€Å"complete. ” The genome has been completely sequenced using the definition utilise by the International Human Genome Project. A vivid history of the human genome project shows that well-nigh(prenominal) of the human genome was complete by the end of 2003.However, at that place argon a number of regions of the human genome that underside be considered unfinished. First, the central regions of each chromosome, cognise as centromeres, are highly repetitive desoxyribonucleic acid sequences that are tight to sequence using current technology. The centromeres are gazillions (possibly tens of millions) of tail end pairs long, and for the most part these are entirely un-sequenced. Second, the ends of the chromosomes, cal led telomeres, are alike highly repetitive, and for most of the 46 chromosome ends these in addition are incomplete.We do not know just now how much sequence remains in front we tense the telomeres of each chromosome, exactly as with the centromeres, current technology does not make it easy to get in that location. Third, on that point are several loci in each individuals genome that contain members of multigene families that are difficult to disentangle with shotgun sequencing modeologies †these multigene families often encode proteins important for immune functions. It is likely that the centromeres and telomeres testament remain un-sequenced until sweet technology is create that facilitates their sequencing.Other than these regions, thither remain a few dozen gaps unlogical just astir(predicate) the genome, some of them rather full-size, further there is hope that all these leave behind be unsympathetic in the next couple of years. In thick: our best estimates of total genome size indicate that about 92% of the genome has been completed . Most of the remaining deoxyribonucleic acid is highly repetitive and unlikely to contain genes, unless we bottomnot truly know until we sequence all of it. discernment the functions of all the genes and their regulation is far from complete.The roles of junk deoxyribonucleic acid, the evolution of the genome, the differences amongst individuals, and legion(predicate) other involveions are unruffled the subject of intense study by laboratories all over the globe. Goals The goals of the original HGP were not scarce to get wind more than 3 billion posterior pairs in the human genome with a minimal error rate, alone also to identify all the genes in this immense amount 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 umpteen scientists.Another goal of the HGP w as to develop faster, more efficient methods for desoxyribonucleic acid sequencing and sequence analysis and the transfer of these technologies to industry. The sequence of the human desoxyribonucleic acid is stored in databases available to anyone on the Internet. The U. S. National Center for ergonomics Information (and sister organizations in Europe and Japan) d easying ho habit the gene sequence in a database cognise as Genbank, along with sequences of known and hypothetical genes and proteins.Other organizations such(prenominal)(prenominal) as the University of California, Santa Cruz[1], and Ensembl[2] present additional data and remark and powerful tools for visualizing and searching it. Computer programs put one across been developed to analyze the data, because the data themselves are difficult to understand without such programs. The process of identifying the boundaries among genes and other features in raw DNA sequence is called genome annotation and is the theater of operations of bioinformatics.While expert biologists make the best annotators, their twist reward slowly, and computer programs are increasingly used to providedt on the high- withput demands of genome sequencing projects. The best current technologies for annotation make use of statistical models that take advantage of doubles between DNA sequences and human language, using concepts from computer science such as formal grammars. Another, often overlooked, goal of the HGP is the study of its ethical, legal, and fond implications.It is important to research these issues and find the most appropriate solutions before they be add up orotund dilemmas whose pith bequeath manifest in the form of study political concerns. All humans be list unique gene sequences; therefore the data published by the HGP does not represent the exact sequence of each and every individuals genome. It is the combined genome of a slender number of anonymous conferrers. The HGP genome is a scaffo ld for future work in identifying differences among individuals. Most of the current effort in identifying differences among individuals involves single nucleotide polymorphisms and the HapMap.How it was effect Funding came from the US government finished the National Institutes of Health in the United States, and the UK charity, the Wellcome Trust, who funded the Sanger Institute ( therefore the Sanger Centre) in Great Britain, as well as numerous other groups from around the world. The genome was miserable into smaller pieces; approximately 150,000 base pairs in length. These pieces are called â€Å"bacterial imitative chromosomes”, or BACs, because they fundament be inserted into bacteria where they are copied by the bacterial DNA replication machinery.Each of these pieces was accordingly sequenced separately as a small â€Å"shotgun” project and then assembled. The larger, 150,000 base pairs go together to create chromosomes. This is known as the â€Å"hiera rchical shotgun” approach, because the genome is send-off 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 Ameri throw out researcher Craig Venter and his trusty Celera Genomics.The $300 million Celera effort was intended to run at a faster pace and at a fraction of the cost of the roughly $3 billion customaryally funded project. Celera used 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 thousand million base pair human genome. Celera signly announced that it would hear patent protection on â€Å"only 200-300” genes, but later amended this to consumeking â€Å"intellectual belongings protection” on â€Å"fully-characterized important complex trunk partsà ¢â‚¬Â amounting to speed of light-300 targets.The firm in conclusion filed preliminary (â€Å"place-holder”) patent applications on 6,500 whole or partial genes. Celera also promised to publish their findings in unanimity with the terms of the 1996 â€Å"Bermuda Statement,” by releasing new data quarterly (the HGP released its new data daily), although, unlike the nationally funded project, they would not permit free redistribution or moneymaking(prenominal) use of the data. In March 2000, President Clinton announced that the genome sequence could not be patented, and should be do freely available to all researchers.The statement sent Celeras stock plummeting and dragged down the biotechnology-heavy Nasdaq. The biotechnology sector missed about $50 billion in merchandise capitalization in ii days. Although the working draft was announced in June 2000, it was not until February 2001 that Celera and the HGP scientists published dilate of their drafts. Special issues of Nature (which published the cosmosly funded projects scientific paper)[7] and Science (which published Celeras paper[8]) described the methods used to prepare 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 accomplished). In February 2001, at the time of the joint publications, press releases announced that the project had been completed by some(prenominal) groups. Im proved drafts were announced in 2003 and 2005, pick in to ~92% of the sequence currently. The competition proved to be very good for the project, spurring the public groups to modify their strategy in order to travel rapidly progress. The rivals initially agreed to pool their data, but the agreement ell apart when Celera refused to deposit its data in the unexclusive public database GenBank. Celera had incorporated the public data into their genom e, 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 benefits, important developments in biota and medicine are predicted as a result of the sequencing of model organisms, including mice, fruit flies, zebrafish, yeast, nematodes, plants, and many microbic 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] antecedently 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 runs to quiver and it is now expected that it will take many years to agree on a accurate value for the number of genes in the human genome. report In 1976, the genome of the computer virus Bacteriophage MS2 was the first comple te genome to be determined, by Walter Fiers and his aggroup at the University of blighter (Ghent, Belgium). 10] The idea for the shotgun technique came from the use of an algorithmic program that combined sequence information from many small fragments of DNA to re clear 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 make noise with a shotgun.In order to scale up the method, both the sequencing and genome crowd had to be diverge, 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 involved the use of automated sequencers, lo nger individual sequences using approximately 500 base pairs at that time. Paired sequences separated by a obstinate distance of around 2000 base pairs which were critical elements alter 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 â€Å"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 mastery of both the public and pr ivately funded effort hinged upon a new, more highly automated capillary DNA sequencing machine, called the Applied Bio administrations 3700, that ran the DNA sequences through an extremely beauteous capillary tube rather than a planar gel. in timeing up more critical was the development of a new, larger-scale genome assembly program, which could handle the 30-50 million sequences that would be undeniable to sequence the entire human genome with this method.At the time, such a program did not exist. One of the first major projects at Celera Genomics was the development of this assembler, which was written 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 locomote Drosophila melanogaster using the whole-genome shotgun method[14]. At one hundred thirty million base pairs, it was at least 10 t imes 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 accomplished 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 chromosome[7]. The Celera group tried â€Å"whole-genome shotgun” sequencing without using the additional mapping scaffolding[8], but by including rip up public data raised questions [15].Whose genome was sequenced? In the IHGSC international public-sector Human Genome Project (HGP), researchers collected line of descent ( pistillate) or sperm ( potent) samples from a large number of donors. sole(prenominal) a few of many collected samples were process as DNA resources. Thus the donor identities were saved so neither donors nor scientists could know w hose DNA was sequenced. DNA clones from many dissimilar 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 single anonymous male donor from Buffalo, New York (code name RP11). [16] HGP scientists used white 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 good more than others, due to quality considerations.One minor skilful issue is that male samples contain only one-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 ma in sequencing phase of the HGP has been completed, studies of DNA variation continue in the International HapMap Project, whose goal is to identify patterns of single nucleotide polymorphism (SNP) groups (called haplo causas, or â€Å"haps”).The DNA samples for the HapMap came from a total of 270 individuals: Yoruba people in Ibadan, Nigeria; Japanese people in Tokyo; Han Chinese in Beijing; and the French Centre d’Etude du Polymorphisms Humain (CEPH) resource, which consisted of residents of the United States having ancestry from Western and Northern Europe. In the Celera Genomics private-sector project, DNA from five different individuals were used for sequencing. The exit scientist 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 pool[17].On September 4th, 2007, a team led by Craig Venter, published his complete DNA sequence[18], 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. outdoors practical results of the project emerged even before the work was finished.For example, a number of companies, such as unnumberable Genetics started offering easy ways to disseminate genetic tests that can show predisposition to a variety of illnesses, including breast cancer, disorders of hemostasis, cystic fibrosis, run shortr affections and many others. Also, the etiologies for cancers, Alzheimers disease and other areas of clinical interest are considered likely to benefit from genome information and possibly whitethorn lead in the long term to substantial advances in their management. There are also many tangible benefits for biological scientists.For example, a researcher investigation a certain form of cancer may ingest 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 written 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 detrimental 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 first h armonic operation of cellular processes, it is likely that expanded knowledge in this area will facilitate aesculapian advances in numerous areas of clinical interest that may not have been possibl e 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 framed 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 variety show 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 get word new data in disease surveillance, human development and an thropology. HGDP could unlock secrets behind and create new strategies for managing the vulnerability of ethnic groups to certain diseases (see race in biomedicine). It could also show how human populations have capable to these vulnerabilities.\r\nThe Human Genome Project\r\nWhen populations start to die there are only so many to ask from for genes. A founder effect will then be created (Welsch 73). The Human Genome Project caboodle 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).\r\nWe are only able to give blood to those who have our selfsame(prenominal) blood type unless we have 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 authoritative what the cause is. They are sure that it is not the RH factor.\r\nThe 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 within our families we are varied because we will not all have the same combination of the system. We all react to infections and diseases differently. My husband is highly allergic to artificial smells. His system seems to be in overdrive.\r\nWhen he was in the military his bunk 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(prenominal) months after her transplant she got an infection and her body jilted 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.\r\nOur bodies also aline and look different fr om 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 sensory 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 person lived they may have more melanin production and have darker skin. Some can also be leggy and skin or short and chubby.\r\nWe measure this through the anthropometry. It helps determine the variations we see. We put these measurements in the cormic index, which is sitting extremum to standing height ( Welsch 273). The intemembral index is the ratio of arm length to leg length (Welsch 273). Body exposit is determined by the BMI or body nap index. A person can be too skinny or too fat and have 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 ponder th e root of genetic and biological differences.\r\nWe also adapt to the milieus we encounter. We can either allow our environment to reassign us or we can change the environment. To exsert 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 somewhat from our surroundings. We can perform niche construction and make our environment suitable to our living conditions. On the farm my in laws own they do several things to insure their success.\r\nThey have to give the cows shots to make sure they are healthy enough for reproduction and the babies will be healthy enough to be sold. They take cope of the grass and the other parts of the land to take care the cows are fed during the spring, summer and fall. They make sure that there is enough hay to pass 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 read our children how to cook, clean, read, and write.\r\nThe 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 inheritance. We have a new emergence of new species through speciation. Differences can be so broad 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.\r\nEvolution takes place as we experience 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 explicit or epigenetic system of inheritance ( Welsch 240). When our genes are adapted we can pass those down to our children affecting how their bodies work and how they behave.\r\nThe way we raise our children af fects how they will behave as adults. If we are nurturing, loving and kind to our children almost all of the time these will be the traits they give birth 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 go through them with others around us, showing the world our understanding through them.\r\nThe symbols we use come from the symbolic system of inheritance. with manipulating the world around us and changing the world around us it is important to our biocultural evolution. Change 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 job 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.\r\nAnother aspect of bi ocultural 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 today connected to our biological self.\r\nThis 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 diet, moving to different places, and sometimes we even change our bodies through modification 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.\r\nEveryone in this world is so unique. No two people even family members w ill be completely identical. Our bodies adapt and varied through the generations to be act 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 tally forth a new culture.\r\nWorks CitedWelsch, Robert Louis, et al. Anthropology: communicate Questions about Human Origins, Diversity, and Culture. Oxford University Press, 2017.\r\n'

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