Genomics

XII  BIOLOGY  
  CH-4  Molecular  Basis  of Inheritance   
 PART-IV-Genomics

Regulation of gene expression:

It is the multistep process by which a gene is regulated and its product is synthesized.

Thus, gene expression results in the formation of a Polypeptide. Gene expression process is regulated at different levels.

In eukaryotes, the regulation can be at different levels like-1)Transcriptional level (formation of primary transcript)2)Processing level (regulation of splicing)3)Transport of m-RNA from nucleus to the cytoplasm.4)Translational level.

        Genes of a cell are expressed to perform different function. for eg An enzyme beta galactosidase is syn  It is used for hydrolysis of lactose to  galactose and glucose.                     

  

If E. coli bacteria do not have lactose in the  surrounding  medium as a source of energy, then enzyme β galactosidase is not synthesised.

So, it is the metabolic or physiological or environmental conditions that regulate expression of genes.  

The development and differentiatien embryo into an adult organism, is also a result of the coordinated regulation or expression, of several  sets of genes.

Now one has to understand a d know the mechanism by which the organisms regulate gene expression in response to changes in th en ironment.                                                                        

If so, whether single mechanism exists for regulation of the expression of different gene/ sets of genes or different genes are regulated by different mechanisms

Certain bacteria like  E.coil adapt to their chemical environment by synthesizing certain enzymes depending upon the 'tl strate present

 Such adaptive enzyme is called inducible enzymes

A set of genes will be switched on when there is necessity to metabolise a new substrate.

This phenomenon is called induction and small molecule responsible for this, is known as inducer.   It is positive control.

Operon  concept:

        It is a transcriptional control mechanism of gene regulation. Francois Jacob and Jacques Monod (1961) explained that metabolic pathways are regulated as a unit.

        E. coli, when lactose sugar is provided to the culture medium, cell induces production of three enzymes necessary for digestion of lactose.                                                         

The enzymes are: -

i) β -galactosidase:    Digests lactose into galactose and glucose.ii) β -galactoside permease:  Permits lactose molecules to enter into the cell.

iii)Transacetylase (p-Galactoside acetyltransferase): Transfers an acetyl group from acetyl CO-A to galactoside

Synthesis of these three enzymes, is controlled by a long segment of DNA known as Operon. It consists

of an operator site 0 and three structural genes Z, Y and A.

The action of structural genes is regulated by operator site with the help of a repressor protein.

Repressor protein is produced by the action of gene i (inhibitor) known as regulator gene.

The gene expression depends on whether operator is switched on or switched off.

Synthesis of these three enzymes, is controlled by a long segment of DNA known as Operon. It consists

of an operator site 0 and three structural genes Z, Y and A.

The action of structural genes is regulated by operator site with the help of a repressor protein.

Repressor protein is produced by the action of gene i (inhibitor) known as regulator gene.

The gene expression depends on whether operator is switched on or switched off.

Lac operon:        Lactose or lac operon of E. coli is inducible operon.

        The operon is switched on when a chemical inducer- lactose is present in the medium.

Lac operon consists of following components:

1)Regulator gene (repressor gene)    

2)Promoter gene        

3)Operator gene

4)Structural genes     

5)Inducer - It is not a component of operon

1) Regulator gene: This gene controls the operator gene in c ration with an inducer present in the cytoplasm.

Regulator gene comes before the promoter gene. It may  present immediately adjacent to operator gene.

Regulator gene produces a protein called repressor p utefh. Repressor binds with operator gene and represses (stops) its action. It is called regulator protein.

2)Promoter gene:    This gene precceds the operator gene. .It is present adjacent to operator gene. The promoter gene marks the site at which the RNA Polymerase enzyme binds. .

When the operator gene is turned on, the enzyme moves over the operator gene and transcription of structural genes starts. .Promoter gene base sequence determines which strand of DNA acts a template

3) Operator gene:     It comes before lie structural genes. This controls the functioning of structural genes.   It lies adjacent to the Structural genes. lien operator gene is turned on by an inducer, the Structural genes produce m­RNA.    

4)Structural gene:   When lactose is added to the E. coli culture, the structural genes produce m-RNA which in tum produces polypeptides, on the ribosomes.                                                                             The polypeptides formed, act as enzymes to produce lactose in the cell.                                            There are 3 structural genes in the sequence lac-Z, lac- Y and lac-A.                                                      Enzymes produced are p-galactosidase, p-galactoside permease and transacetylase respectively.

5)Inducer: It is a chemical in the cytoplasm (allolactose) which inactivates the repressor.                       When lac operon is switched on, then inducer joins with repressor protein preventing the binding of repressor to the operator gene.  So, the Operator gene becomes free and now enzyme RNA polymerase can move from promoter to structural genes via operator gene.

Role of lactose:
i)A few molecules of lactose enter into the  cell by an enzyme permease.
ii)A small amount of this enzyme is present even when operon is switched off.                                                                          iii)A few molecules of lactose, act  as inducer and bind to repressor.
iv)This repressor - inducer complex fails to join with the operator gene, which is then turned on.
v)Structural genes produce all enzyme .
vi)Thus, lactose acts as an inducer of its own break down.
vii)When the inducer Ievel falls  the operator is blocked again by repressor.
viii)Sostructural genes are repressed/ inactivated again. This is negative feedback.

Genomics

The term Genome (introduced by H. Winkler in 1920) is the total genetic constitution of an organism. or

It is a complete copy of genetic information (DNA) or one complete set of chromosomes (monoploid or haploid) of an organism.

The term Genomics (term coined by T.R. Roderick in 1986) is the study of genomes through analysis, sequencing and mapping of genes along with the study of their functions

The sequencing of yeast, Drosophila and mouse genome was done in order to facilitate comparative studies between humans and other organisms commonly used for genetic studies, in laboratory.

Several additional genomes are now either actively being sequenced or strongly considered for sequencing. These include several microbes, bee, tomato and other crops.

Genomics study may be classified into two types: -

Structural genomics: It involves mapping, sequencing and analysis of genome.

Functional genomics: It deals with the study of functions of all gene sequences and their expression in orgamsms.

Application of genomics:

1)Structural and functional genomics is used for different purposes in the improvement of crop plant, human health and livestock.

2)The knowledge and understanding acquired from genomics research can be applied in a number of different

3)sectors, including medicine, biotechnology and social sciences.

4)It helps in the treatment of genetic disorders through gene therapy.

5)Genomics is used in agriculture to develop transgenic crops having more desirable characters.

6)Genetic markers developed in genomics, have applications in forensic analysis.

7)Genomics can lead to introduce new gene in microbes to produce enzymes, therapeutic proteins and even biofuels.

Human Genome Project:

The human genome project was initiated in 1990 under the International administration of the                                  Human Genome Organization (HUGO).

1)This project was coordinated by the US department of Energy and National institute of health.

2)The information is taken from international partners in the United Kingdg , france, Germany, Japan, India and China.

3)The Human Genome Project formally began in 1990 and was com ete in 2003.

4)The human genome project is a multinational research project  to determine the genomic structure of humans

The main aims of project are -          

I)Mapping the entire human genome at the level of nucleotide ,sequences.

II)To store the information collected from the project in database.

III)To develop tools and techniques for analysis of the data.

IV)Transfer of the related technologies to the private se ors, such as industries.

V)Taking care of the legal, ethical and social issues  which may arise from project.

HGP (Human Genome Project) was closely  associated with rapid development of a new area in biology, called Bioinformatics.

1)The work of human genome project  as allowed researchers to begin to understand the blueprint in building and constructing the human genome.

2)As researchers learn more about  the functions of genes and proteins, this knowledge will have a major impact in the fields like medicine, Biotechnology and the Life sciences. Hence, HGP is very important.

3)Human Genome Project was to provide a complete and accurate sequence of the 3 billion DNA base pairs that make up  the human genome and to find out the estimated number of human genes.

4)Now about 33000 genes have been estimated to be present in humans.

5)The project was also aimed to sequence the genomes of several other organisms such as bacteria.

6)e.g. E. coli, Caenorhabditis elegans (a free-living non-pathogenic nematode), Saccharomyces cerevisiae (yeast), Drosophila (fruit fly), plants (rice and Arabidopsis), Mus musculus (mouse), etc.

7)Complete genome sequences of these model organisms will be useful for comparative studies that will allow researchers to study gene functions in these organisms.

8)The secret of our complexity may lie not in the number of our genes but how we use them.

9)It will lead to the understanding of gene structure and function in other species.

10) Since we have many of the genes same as these of flies, round worms and mice, such studies will lead to a greater understanding of human evolution.

DNA Fingerprinting: 

1)Genes present on chromosomes are responsible for determining characters of the organism as well as for inheritance of characters.                                                                                                              

2)Due to recombination of paternal and maternal genes, we differ from our parents. 

 3)Differences also arise due to infrequent mutations that occur during gamete formation (cell division).        

  4)Due to all these factors, every individual has its unique genetic make-up, which may be called its Fingerprint.      

 5) The technique developed to identify a person with the help of DNA restriction analysis, is known as DNA profiling or DNA fingerprinting.       

 6)The technique of finger printing was first given by British geneticist, Dr. Alec Jeffreys in 1984. 

7)DNA fingerprinting technique is based on identification of nucleotide sequence present in this wonder molecule.                                                                                                                                 

8)About 99.9% of nucleotide sequence in all persons, is same.    

 9)Only some short sequences of nucleotides differ from person to person in  the population, every person shows unusual sequences of20-1 00 base pairs, which are repeated several times.  

  10) They are termed as Variable Number of Tandem Repeats (VNTRs).

11)The length of the regions having VNTRs is different in each individual and hence is the key factor in DNA profiling

 Steps involved in DNA finger printing are as follows  -                                           1. Isolation of DNA: The DNA must be isolated from the cell or tissues of the body (host).   Only small amount of tissue like blood, hair roots, skin, etc. is required

 2. Restriction digestion: The isolated DNA is treated with restriction enzymes.   The restriction enzymes cut the DNA into small fragments having variable length .This phenomenon is called Restrlction agment Length Polymorphism (RFLP).    

  3. Gel electrophoresis:     The DNA samples are, loaded for agarose  gel electrophoresis under an electric influence. The DNA fragments having negatively charged move to the positive pole.The movement of these fragments depends on length of the fragments.  This results in formation of bands.dsDNA splits into ssDNA by alkali  treatment.  

4. Southern blotting: The separated DNA fragments are transferred to a nylon membrane or a nitrocellulose filter paper by placing it oven ne gel and soaking them with filter paper overnight.

  5. Selection of DNA probe:   known sequence of single- stranded DNA is prepared. It is called DNA Probe.DNA Probe is obtained from organisms or prepared by cDNA preparation method.The DNA probe is labelled  with radioactive isotopes.         

 6: Hybridization: Probe DNA is added to the nitrocellulose filter paper containing host DNA. The single­stranded DNA probe pairs with the complementary base sequence of the host DNA strand. As a result DNA­DNA hybrids are formed on the nitrocellulose filter paper. Remaining single stranded DNA probe fragments are washed.   

  7:Photography: The nitrocellulose filter paper is photographed on an X-ray film by autoradiography. The film is  analysed  to determine the presence of hybrid DNA.     

    Application of DNA fingerprinting-                                                                                1)In forensic science, DNA finger printing is used to solve problems of rape and some complicated murder cases.   

2)DNA finger printing is used to find out the biological father or mother or both, of the child, in case of disputed parentage.   

 3) DNA finger printing is used in pedigree analysis in cats, dogs, horses and humans

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