HUMAN GENETICS ; GENE EXPRESSION


It is the second important function of genetic material (DNA). first function : Transfer of character to the next generation. It is the molecular mechanism by which the heredity information present in the gene comes out and produce a character.

A . Garrod  : 1 Mutant Gene =1 Metabolic Block

*Beadle and Tatum 

1 Gene = 1 Enzyme Hypothesis

Work on Neurospora (Drosophila of plant kingdom).A wild type Neurospora  can grow easily on minimal medium ( Sugar, salt, biotin and ammonium compound )
A wild type Neurospora exposed to x-ray they induces mutation.
they obtain many form which are now unable to grow in minimal medium.
They will grow when come addition nutrient are added in the mutation .
Such nutritional mutant are know as Auxotrophs.

They are three type of Auxotrophs


Cross I : They will grow when either ornithine / citrulline / arginine is added in the medium (enzyme a gets mutated )

Cross II : They will grow when either citrulline / arginine is added in the medium (Enzyme B gets mutated ).

Cross III : They will grow when arginine is added in the medium.( enzyme C gets mutated) 
 
From this , they concluded an arginine biosynthesis pathway in Neurospora.

Auxotrophs

                                      Auxotrophs

  
Thus, the concluded that each gene forms a special enzyme. 
One gene =one enzyme hypothesis , one gene = one polypeptide (by Yanofsky), and on cistron = one polypeptide hypothesis. 

TYPE OF GENE  

1. CONSTITUTIVE GENE : (HOUSEKEEPING GENE) 

Gene which always remains active and their protein product are continuously required in the body. These gene need not be regulated ON 
example ; Gene of respiratory enzyme.

2.NON CONSTITUTIVE GENE   : ( LUXARY/ SMART GENE )

Gene which do always remain active. These gene required an ON-OFF mechanism that is regulation mechanism.

They are two type-
  
(i) Inducible gene- off to on involved in catabolism, inducer substrate 
(ii) repressible gene- on to off involved in anabolism. If the end products is available in the       cell (ready made) then the synthesis stops.

* Poly cis - composed of  many genes , split gene -composed of 1 gene 


3.OVERLAPPING GENE 

Very special and rare by t. sanger.
 Gene  which can produce more than 1 type of polypeptide.
 It is due to overlapping genetic code.
 It is found in some virus 
  example : x174, sv-40 

4.HOMEOTIC GENE :

 Special gene which regulate organ differentiation in organism. There activity is regulated by homeobox. Due to mutation -either organ is not form or they will form abnormally at wrong places 

5. JUMPING GENE ( TRANSPOSONES )

Gene which can move from one locus to another locus on a some / different chromosome. discovered by :  B. McClintok ( lady mendel ) in activator and dissociation present on chromosome 9 and move to other chromosome.
 
Few active gene are 
(Copia like element ,fold back element , P and I element ) Drosophila 
(Ty element ) yeast, 
(Alu element )
Transposones used as vector in gene transfer experiment in genetic engineering 

6.PSEUDOALLELES

They are identified by some rare crossing over.
example star (external) and asteroid (internal ) eye shape in drosophila 

7.ISOALLELES

Different  forms of an allele which produce similar phenotype.
Example : eye colour of drosophila
It produce similar phenotype (almost similar expression)
It is not counted as new allele but isoallele  
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