Structure and Function of DNA
Halil Gürhan KARABULUT, MD, Ph.D.
Department of Medical Genetics
Friedrich Miescher (1868)
– nuclein
(acidic -DNA- and basic -protein-)
Avery-McLeod-McCarty
Avery-McLeod-McCarty (1944) Hershey-Chase (1952)
• DNA is the genetic material
Chargaff rules
• the composition of DNA varies from one species to another but not in the same species
• the composition of DNA does not change according to sex, nutritional or environmental conditions
• in any sample of DNA, the amount of adenine is equal to the amount of thymine and the amount of guanine is equal to cytosine:
A=T, G=C
• Total amount of purine bases is equal to total amount of pyrimidine bases:
A+G=T+C
The Nobel Prize in Physiology or Medicine 1962
"for their discoveries concerning the molecular structure of nucleic acids and its significance for information transfer in living material"
Francis Harry Compton Crick James Dewey Watson Maurice Hugh Frederick Wilkins
1/3 of the prize 1/3 of the prize 1/3 of the prize
United Kingdom USA United Kingdom and New
Zealand MRC Laboratory of Molecular
Biology
Cambridge, United Kingdom
Harvard University
Cambridge, MA, USA London University London, United Kingdom
b. 1916
d. 2004 b. 1928 b. 1916
(in Pongaroa, New Zealand) d. 2004
DNA: deoxyribonucleic acid
RNA: ribonucleic acid
building blocks of nucleic acids are nucleotides
DNAdeoxyribonucleotide
RNAribonucleotide
Nucleotides:
• Phosphate,
• Five-carbon sugar and,
• Nitrogenous bases
Nitrogenous bases:
– Purines:
• Adenine
• Guanine – Pyrimidines:
• Cytosine
• Thymine
• Uracil
• Phosphate group is linked to 5’ carbon atom by ester bond
• Bases are linked to 1’ carbon atom by N-glycosidic bond
Bases Nucleoside (base+sugar)
Nucleotide
(base+sugar+phosphate)
Symbol Nucleic acid Adenine Adenosine
Deoxyadenosine
Adenylate
Deoxyadenylate
AMP dAMP
RNA DNA Guanine Guanosine
Deoxyguanosine
Guanylate
Deoxyguanylate
GMP dGMP
RNA DNA Cytosine Cytidine
Deoxycytidine
Cytidylate
Deoxycytidylate
CMP dCMP
RNA DNA Thymine Deoxythymidine Deoxythymidylate dTMP DNA
Uracil Uridine Üridylate UMP RNA
Structure of DNA
• Double-stranded, right-handed helical structure
• Strands are antiparallel (run in opposite directions)
• Sugar phosphate on the outside and nitrogen bases on the inner side
• Nitrogen bases of the two strands form complementary pairs with purine of one and pyrimidine of the other, held together by hydrogen bonds
• Contains major and minor grooves
• Each turn of the helix contains 10.5 base pairs
• The model defined by Watson-Crick is B form DNA
• In high salt concentrations or in alternate purine and pyrimidine bases Z form may be seen
• Under conditions of low humidity A form may be seen
Functional importance of DNA structure
• replication
• recombination
• repair
• transcription
hybridization