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Human Genome Project

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  • Last Updated : 04 Sep, 2022
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Human Genome Project was the world’s largest collaborative biological project that gave us the ability to examine the full genetic manual for creating a human being in nature. HGP was international scientific research that mainly aims to determine the base pairs that make human DNA, as well as the identification, mapping, and sequencing of every gene in the human genome, both physically and functionally. The entire 3.3 billion base pair human genome was sequenced as part of a project that was successfully finished in 2003.

History

The Human Genome Program (HGP) was carried out in the United States by the National Institutes of Health (Human Genome Research Institute), under the leadership of Francis Collins, and the Department of Energy (Ari Patrinos). The human genome’s 90% completion of sequencing was revealed by Celera Genomics CEO Craig Venter in 2001. (Draft sequence).
The entire sequence was produced and released in 2003 (finished sequence). In 2006, a more precise sequence is available, and it will take some more time to fix minor errors (1 less in 10,000 DNA subunits).

State of Completion

  • The study was unable to sequence all of the DNA present in human cells. Only euchromatic sections of the genome, which make up 92.1% of the human genome, were sequenced. The effort did not include the sequencing of the additional heterochromatic areas, which are located in centromeres and telomeres.
  • In April 2003, the Human Genome Project (HGP) was deemed complete. The human genome’s first draft became accessible in June 2000, and by February 2001, a working draft had been finished and made public. On April 14, 2003, the human genome’s final sequencing and mapping took place.
  • A major quality assessment of the human genome sequence was published on May 27, 2004, and it showed that over 92% of the sampling exceeded 99.99% accuracy, which was within the intended goal. This was even though it was reported to cover 99% of the euchromatic human genome with 99.99% accuracy.
  • Although the Genome Reference Consortium (GRC) published a more accurate version of the human genome in March 2009, there were still more than 300 gaps; by 2015, just 160 gaps remained.
  • Although the GRC reported 79 “unresolved” gaps in May 2020, making up as much as 5% of the human genome, months later, the use of new long-range sequencing methods and a cell line generated from hydatidiform moles, in which both copies of each chromosome are the same, resulting in the first telomere-to-telomere, the truly complete sequence of a human chromosome, the X chromosome Similar to this, a few months later a complete end-to-end sequencing of human autosomal chromosome 8 was discovered.
  • According to a report from 2021, all but five gaps in the repetitive portions of ribosomal DNA had been filled in by the Telomere-to-Telomere (T2T) consortium.
  • Those gaps were likewise filled many months later. The Y chromosome, which makes the embryo masculine, is missing from the cell line that served as the source for the DNA tested, therefore the whole sequence was missing it. About 0.3% of the complete sequence had difficulty being checked for quality, making it possible that there were faults there that needed to be confirmed.
  • The official publication of the entire non-Y chromosome sequence in 2022 gave a view of much of the 8% of the genome left out by the HGP.

Goals

  • To determine the entire sequence of human DNA.
  • To develop improved tools for data analysis.
  • To identify all the genes that are present in human DNA.
  • To transfer the related technologies to the private sector.
  • To create genome sequence databases to store the data.
  • To take care of ethical, legal, and social issues that may arise from the project.

Features

  • Our genome contains 3164.7 million base pairs in its entirety.
  • A gene contains 3000 nucleotides on average.
  • Moreover, over half of the genes’ functions are unknown at this time.
  • Less than 2 % of the genome codes for proteins.
  • The majority of the genome is made up of repetitive sequences that serve no particular role in coding, but these redundant codes can aid in our understanding of how humanity’s genetic makeup has changed throughout history.

Genome Donors

The Human Genome Project did not use the sequence from a single individual to create the human genome. Instead, it is a composite of information from numerous sources, all of whose identities have been rendered purposefully anonymous to preserve their privacy.

To find volunteers, get their informed consent, and collect blood samples, the project researchers followed a methodical procedure. In Buffalo, New York, blood donors contributed the majority of the human genome sequence, with 93% coming from 11 donors and 70% from one donor, respectively.

Process

  • First, complete DNA will be isolated from a cell
  • Then using restriction enzymes, we will divide the DNA into small fragments.
  • Commonly used vectors known as BAC (bacterial artificial chromosomes) and YAC (yeast artificial chromosomes) will amplify the small fragments.
  • Now, these fragments will get sequenced using an automated DNA sequencer that works on the principle of a method developed by Frederick Sanger.
  • Now, these sequences will get rearranged based on some overlapping regions present in them.
  • Now for sequencing, we required overlapping fragments.
  • Now all the information related to the genome will store in a computer-based program.
  • These successions were hence commented on and were allotted to every chromosome.
  • Along these lines, the whole genome was sequenced and stored as a genome database on a computer.
  • Genome mapping was the next goal that was accomplished with the assistance of microsatellites, i.e., the repetitive DNA succession.
     

Techniques 

  • The Human Genome Project utilized Sanger sequencing to decide the sequences of moderately small fragments of human DNA (900 bp or less).
  • These fragments were then used to sort out bigger DNA fragments and, eventually whole chromosomes.
  • Genomics research is accelerated through the advancement of next-generation sequencing technologies.

Methods

  • Expressed sequence tags in which genes have been differentiated into those that make up part of the genome and others that express RNA.
  • Sequence Annotation, where the whole genome was first sequenced and functional tags were assigned later.

Applications and Proposed Benefits

  • From molecular medicine to human evolution, the sequencing of the human genome has advantages in many areas. 
  • The Human Genome Project can advance forensic applied sciences, help with biofuels and other energy applications, agriculture, animal husbandry, bioprocessing, risk assessment, and bioarchaeology. 
  • By sequencing the DNA, the Human Genome Project will enable researchers to better understand diseases such as genotyping of specific viruses to direct appropriate treatment; identification of mutations linked to different types of cancer; medication design, and more accurate prediction of their effects; and biofuels.
  • The commercialization of genomics research about DNA-based products, an enormously lucrative business, is another benefit that has been put forth.

Developments

  • It is believed that a thorough understanding of the human genome would open up new possibilities for medicine and biotechnology.
    Finding the genetic variants that raise the risk for prevalent diseases like cancer and diabetes was the next step after having the sequence in hand. Additionally, the etiologies of cancer, Alzheimer’s disease, and other clinically relevant conditions are thought to gain from the knowledge of the human genome and may, in the long run, result in considerable improvements in their management.
  • Additionally, the examination of similarities in DNA sequences from other organisms is revealing new directions in the study of evolution.
    The data collected for this study is anticipated to shed light on several issues regarding the similarities and differences between humans and their closest living relatives (the primates, as well as the other mammals).
  • The study served as an example and a platform for genetic research in other industries, such as agriculture. For example, a significant understanding of how domestication has affected the evolution of the plant has been gained by examining the genetic makeup of Tritium aestivum (the world’s most popular bread wheat.)

Impact

  • This project will entirely change the approach for biomedical researchers as well as preventive and therapeutic health care.
  • The development in the fields like bio-informatics and bio-statistics will allow us a better pattern for the detection and analysis of genetic disorders.

Ethical, Legal, and Social Issues

  • Fairness in the use of genetic information.
  • Privacy and confidentiality of genetic information.
  • Psychological impact and stigmatization
  • Reproductive issues
  • Clinical issues
  • Patent issues
  • Health and environmental issues.
  • Education and quality control.
  • Commercialization of products.
  • Conceptual and philosophical implications

FAQs on Human Genome Project

Question 1: Write about the human genome project.

Answer: 

HGP was international scientific research that mainly aims to determine the base pairs that make human DNA, as well as the identification, mapping, and sequencing of every gene in the human genome, both physically and functionally. It was the world’s largest collaborative biological project that gave us the ability to examine the full genetic manual for creating a human being in nature. The entire 3.3 billion base pair human genome was sequenced as part of a project that was successfully finished in 2003.

Question 2: Write the process of the human genome project.

Answer:

Process of the human genome project-

  • First, complete DNA will be isolated from a cell
  • Then using restriction enzymes, we will divide the DNA into small fragments.
  • Commonly used vectors known as BAC (bacterial artificial chromosomes) and YAC (yeast artificial chromosomes) will amplify the small fragments.
  • Now, these fragments will get sequenced using an automated DNA sequencer that works on the principle of a method developed by Frederick Sanger.
  • Now, these sequences will get rearranged based on some overlapping regions present in them.
  • Now for sequencing, we required overlapping fragments.
  • Now all the information related to the genome will store in a computer-based program.
  • These successions were hence commented on and were allotted to every chromosome.
  • Along these lines, the whole genome was sequenced and stored as a genome database on a computer.
  • Genome mapping was the next goal that was accomplished with the assistance of microsatellites, i.e., the repetitive DNA succession.

Question 3: What are the methods of the human genome project?

Answer:

Methods of the human genome project-

  • Expressed sequence tags in which genes have been differentiated into those that make up part of the genome and others that express RNA.
  • Sequence Annotation, where the whole genome was first sequenced and functional tags were assigned later.

Question 4: What are the goals of the human genome project?

Answer:

Goals of the human genome project-

  • To determine the entire sequence of human DNA.
  • To develop improved tools for data analysis.
  • To identify all the genes that are present in human DNA.
  • To transfer the related technologies to the private sector.
  • To create genome sequence databases to store the data.
  • To take care of ethical, legal, and social issues that may arise from the project.

Question 5: Write the impact of the human genome project.

Answer: 

This project will entirely change the approach for biomedical researchers as well as preventive and therapeutic health care. The development in the fields like bio-informatics and bio-statistics will allow us a better pattern for the detection and analysis of genetic disorders.


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