HUMAN GENOME SCIENCE: A NEW FACE OF PHARMACEUTICAL SCIENCE: A REVIEW

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ABOUT AUTHORS
Tahseen Sameena*1, Prathima Patil1, S.P.Sethy*1
1Department Of Pharmaceutics.
Azad College of Pharmacy
Moinabad-Chilkur Road , Hyderabad- India
* tahseensameena1992@gmail.com

ABSTRACT: -
The Human Genome Project (HGP) refers to the international 13‐year effort, formally begun in October 1990 and completed in 2003, to discover all the estimated 20,000–25,000 human genes and make them accessible for further biological study. Another goal of this project was to determine the complete sequence of the 3 billion DNA subunits (bases in the human genome). As part of the HGP, parallel studies were carried out on selected model organisms such as the bacterium E.coli and the mouse to help develop the technology and interpret human gene function. The DOE Human Genome Program and the U.S National institute of Health (NIH) National Human Genome Research Institute (NHGRI) together sponsored the U.S.Human Genome Project.”

Reference Id: PHARMATUTOR-ART-2532

PharmaTutor (Print-ISSN: 2394 - 6679; e-ISSN: 2347 - 7881)

Volume 5, Issue 10

Received On: 07/06/2017; Accepted On: 27/06/2017; Published On: 01/10/2017

How to cite this article: Sameena T, Patil P, Sethy SP; Human Genome Science: A new face of pharmaceutical science: A Review; PharmaTutor; 2017; 5(10); 30-47

INTRODUCTION:
The most important feature of DNA molecule are the nucleotide sequences, and the identification of genes and their activity .Science 1920 scientist have been working to determine the sequences of a piece of DNA. This was further extended for complete sequence determination of genome of certain lower organism e.g. Plasmid pbr322. The sequencing of the human genome represented the largest single undertaking in the history of biological science and stands as a signature scientific achievement. All of history in the making, human DNA took just 13 years (1990-2003) [1] to sequence under the Human Genome Project (HGP), an international public project led by the United States, and a complementary private program. Sequencing the human Genome determining the complete sequence of the 3 billion DNA base pairs and identifying each human gene—required advanced technology development and the assembly of an interdisciplinary team of biologists, physicists, chemists, computer scientists, mathematicians and engineers. Scientists are using the reference genome, the knowledge of genome structure, and the data resulting from the HGP as the foundation for fundamental advancements in medicine and science with the goals of preventing, diagnosing, and treating human disease. Also, while foundational to the understanding of human biological systems, the knowledge and advancements embodied in the human genome sequencing, and the sequencing of model organisms, are useful beyond human biomedical sciences .The resulting “genomic revolution” is influencing renewable energy development, industrial biotechnology, agricultural biosciences, veterinary sciences, environmental science, forensic science and homeland security, and advanced studies in zoology, ecology, anthropology and other disciplines[2].

THE BIRTH AND ACTIVITY OF HUMAN GENOME PROJECT (HGP): The human genome project was conceived in 1984, and officially started in October 1990. The primary objective of human genome project was to determine the nucleotide sequence of entire human nuclear genome [3]. In addition to this HGP was also entrusted to elucidate the genome of several other model organisms like E.coli, S. Cerivisiae, Mus musculus (mouse). James Watson who elucidated the DNA structure was the first director of HGP. In 1997 US established the National Human Genome Research Institute (NHGRI). The HGP was an international venture involving research group of six countries- USA, UK, FRANCE, GERMANY, CHINA, and JAPAN and several individual research laboratory and scientists and technicians from various disciplines throughout the world. This collaborative venture was named as International Human Genome Sequencing Consortium headed by Francis Collins [4].  A total expenditure of 3 billion USD and a time period of 10-13 years of completion of HGP. A second human genome project was constituted by Celera Genomics, Maryland USA  in 1998.The team was led by Craig Venter and a very rapid and un expected progress occurred in HGP with good co-operation between the team of workers and improved method of sequencing.

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ANNOUNCEMENT OF THE DRAFT SEQUENCE OF HUMAN GENOME: The date 26th June 2000 will be remember as one of the most important dates in the history of science or even mankind. It was on this day Francis Collins and Craig Venter, the leader of two human genome projects in the presence of the president of US, jointly announced the working draft of human genome sequence. The detailed result was later published in scientific journal the nature and science. The human genome project results in worldwide attention. The achievement was hailed with many descriptions in media
• The mystery of  life unraveled
• The library of life
• The periodic table of life
• The holy grail of human life
It may however, be noted that the draft human genome sequence was not complete and may represent around 90%. The remaining 10% is made up of sequence where few genes are
located [5].

APROACHES FOR GENOME SEQUENCING:
For elucidating the human genome different approaches were used by the two HGP group. IHGSC predominantly employed the map first and sequence later approach. The principal method was Hierarchical Short gun Method [6]. This method involves fragmentation of genome to small fragment (100-200Kb) and inserting them into vector e.g. BACs and cloning. Celera genomics used Whole Genome Shotgun Method. This bypasses the mapping step and saves time .Celera groups was lucky to have high-throughput put sequesters and powerful computer programmes that help for early completion of human genome sequence. 

One of the most difficult questions of human genome project was whose is being sequenced and how it will relate to 6 billion people of the world with wide range of variation? There is no such simple answer to this question but looking from the positive side it does not matter whose genome was sequenced, since phenotypic difference between individuals are variations in just 0.1% of the total genome sequenced. Therefore many individual genomes can be used as a source material for sequencing. Much of the human genome work was performed on the material supplied by Centre of human Polymorphism in Paris, France. This institute had collected cell lines from sixty different French families each spanning three generations.

HUMAN GENOME SEQUNCE-RESULTS SUMMARISED:
The results of human genome project [7] is too vast and only some highlights we are presenting here Table-1

A list of principal method used for mapping of genome (For normal and disease gene)

                                                                                                                                                                                                                                                                             



METHOD


COMMENTS


DNA sequencing


Physical map of  DNA can be identified with high resolution


Use of Probes


To identify RFLPs,STS,and SNPs


Radiation hybrid mapping


Fragment  genome into large pieces and locate markers


Florescent in situ hybridization (FISH)


To locate a gene on chromosome


Sequence target site mapping


Applicable to any part of DNA sequence if some sequence information is available


Express sequence tag mapping


A variant of STS mapping , expressed genes are actually mapped and located


Pulsed-field electrophoresis(PFGE)


For separation and isolation of large DNA fragment


Cloning vectors(Plasmid,cosmid,phase,YACs BACs)


to isolate DNA fragment of variable length


Polymerase chain reaction


To amplify gene fragment


Chromosome walking


Useful for cloning of overlapping DNA fragment


Chromosome jumping


DNA can be cut into larger fragment and circularized for use in chromosome walking


Detection of cytogenetic abnormalities


 Certain genetic disease can be identified by cloning the affected genes


Databases


Existing database facilitates gene identification by comparison of DNA and protein sequence

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