Content text SP-3_Ch-15_Molecular Basis of Inheritance.pdf
Chapter Contents Aakash Educational Services Limited - Regd. Office : Aakash Tower, 8, Pusa Road, New Delhi-110005 Ph. 011-47623456 The DNA The Search for Genetic Material RNA World Replication Transcription Genetic Code Translation Regulation of Gene Expression Human Genome Project DNA Fingerprinting “Factors/Genes” were first detected and analyzed by Mendel and subsequently many other scientists, by following their patterns of transmission from generation to generation. Later investigations confirmed that DNA acts as genetic material in all living organisms. However, viruses have either DNA or RNA as their genetic material. THE DNA DNA is a long polymer of deoxyribonucleotides. It is an acidic substance present in nucleus, which was first identified by Friedrich Meischer in 1869. He named it as “Nuclein”. Altmann found these substances to be acidic in nature, hence he named it nucleic acid. The length of DNA is usually defined as number of nucleotides or a pair of nucleotide referred to as base pairs (bp) present in it. This also is the characteristic of an organism. Few examples are given below : Organism Genetic material No. of nucleotides or bp 174 bacteriophage ssDNA, Circular 5386 bases Lambda () phage dsDNA, Linear 48502 bp Escherichia coli dsDNA, Circular 4.6 × 10 bp 6 Human genome dsDNA, Linear 3.3 × 10 bp 9 Structure of Polynucleotide Chain The basic unit of DNA is a nucleotide which has three components – a nitrogenous base, a pentose sugar (deoxyribose) and a phosphate group. There are two types of nitrogenous bases : (i) Purines : Heterocyclic, 9-membered double-ring structure with N at position 1, 3, 7 and 9, e.g., Adenine (A) and Guanine (G). (ii) Pyrimidines : Heterocyclic, 6-membered single-ring structure with N at 1 and 3 position, e.g., Cytosine (C), Thymine and Uracil. Cytosine is common in both DNA and RNA; thymine is present in DNA and uracil is present in RNA at the place of thymine. Chapter 15 Molecular Basis of Inheritance
130 Molecular Basis of Inheritance NEET Aakash Educational Services Limited - Regd. Office : Aakash Tower, 8, Pusa Road, New Delhi-110005 Ph. 011-47623456 A polynucleotide chain shows following types of linkage or bond in its components : (i) N-glycosidic linkage : A nitrogenous base is linked to the pentose sugar through a N-glycosidic linkage to form a nucleoside. Purine nucleosides have 1 — 9 glycosidic linkage (carbon 1of sugar and 9 position of A/G). Pyrimidine nucleosides have 1 — 1 linkage i.e., sugar carbon 1 and 1 position of T/C). (ii) Phosphoester linkage : When a phosphate group is linked to 5 – OH of a nucleoside through phosphoester linkage a corresponding nucleotide is formed. Two nucleotides are linked through 3— 5 phosphodiester linkage to form a dinucleotide. A polymer thus formed has a free phosphate moiety at 5-end of sugar, which is referred as 5-end of polynucleotide chain. Similarly, at the other end of the polymer the sugar has a free 3-OH group which is referred to as 3-end of polynucleotide chain. The backbone in a polynucleotide chain is formed due to sugar and phosphates. The nitrogenous base linked to sugar moiety projects from the backbone. 5 phosphate 3 hydroxyl Fig. : A Polynucleotide chain Types of Nucleosides in DNA Types of Nucleotides in DNA (i) Deoxyadenosine (A + S) + P = dAMP (deoxyadenosine monophosphate) (ii) Deoxyguanosine (G + S) P = dGMP (deoxyguanosine monophosphate) (iii) Deoxycytidine (C + S) P = dCMP (deoxycytidine monophosphate) (iv) Deoxythymidine (T + S) P = dTMP (deoxythymidine monophosphate) Types of Nucleosides in RNA Types of Nucleotides in RNA (i) Adenosine (A + S) P = AMP (adenosine monophosphate) (ii) Guanosine (G + S) P = GMP (Guanosine monophosphate) (iii) Cytidine (C + S) P = CMP (Cytidine monophosphate) (iv) Uridine (U + S) P = UMP (Uridine ) monophosphate + + + + + + + Note : S and P represents sugar and phosphate respectively. Sugar is ribose (C5H10O5) in RNA and deoxyribose (C5H10O4) in DNA. Derivation of DNA Structure Two lines of investigations helped in derivation of DNA structure i.e., X-ray Crystallography and Chargaff’s rule. (a) X-ray Crystallography : Maurice Wilkins and Rosalind Franklin obtained very fine X-ray diffraction pictures of DNA. It was suggested that structure of DNA was sort of helix with 3.4 Å periodicity. But they had not proposed a definitive model for DNA. (b) Erwin Chargaff’s Rules : Chargaff’s along with his colleagues, performed base composition studies and put forward certain generalisations for double-stranded DNA, called as Chargaff’s rule (Not applicable for single-stranded DNA). (i) Purines and pyrimidines occur in equal amounts. (ii) Purines found in DNA are adenine and guanine. Pyrimidines of DNA are thymine and cytosine. A + G = T + C