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Chapter 20
biology • intermediate 12th

Chapter 20: Chromosomes and DNA

Complete notes for Chapter 20 Chromosomes and DNA. Covers chromosome structure, DNA replication, Central Dogma, Mutations, and key experiments (Morgan, Griffith, Hershey-Chase).

Chromosomes

Definition: Thread like structures which are present in the nucleus. They appear at the time of cell division.

Discovery: German embryologist Walther Fleming in 1882 first observed the chromosomes. He discovered them in the rapidly dividing cells of salamander larva.

Number of Chromosomes: Different species have different number of chromosomes. Humans (46), Drosophila (8), Corn (20), Sugarcane (80), Frog (26), Mouse (40).

Importance: Chromosomes play an important role in the inheritance of a species. Each of them has genes which determines how the person's body develops and functions.

Types of Chromosomes

Based on the position of centromere:

  1. Telocentric: The centromere is at the tip of the arm.
  2. Acrocentric: Rod shaped, centromere is near one end.
  3. Sub-metacentric: The two arms of the chromosomes are unequal due to the position of centromere. Assume J shape at anaphase.
  4. Metacentric: Both the arms are equal and acquire the V shape at anaphase.

Composition of Chromosome

Chemically chromosomes are composed of two basic portions: DNA (40%) and Histone Proteins (60%).

Nucleosome

DNA and histone proteins combine to form nucleosome. In one nucleosome there are nearly 200 nucleotides and this DNA duplex is coiled around a core of eight histone proteins.

Histones: Have positive charge due to basic amino acids arginine and lysine, which attracts them to negatively charged phosphate groups of DNA.

Types of Chromatin

  • Heterochromatin: Highly condensed. DNA cannot express itself.
  • Euchromatin: Condensed only during cell division. Other times present in open configuration and genes can be expressed.

Chromosomal Theory of Inheritance

Sutton's Work: In 1902 Sutton proposed that similar chromosomes paired with one another during meiosis describe the role of chromosomes in heredity.

Morgan's Experiment: In 1910 Thomas Hunt Morgan studied Drosophila melanogaster. Detected a white-eyed mutant male. Crossed with normal red-eyed female. F1 were all red-eyed. F2 showed 3:1 ratio but all white-eyed flies were males. This confirmed sex-linkage and that genes reside on chromosomes.

DNA as Hereditary Material

Griffith's Experiment (Transformation)

Studied Streptococcus pneumoniae (Virulent S-strain and Harmless R-strain). Injected heat-killed S-strain and live R-strain into mice. Mice died. Found live S-strain in blood. Concluded something transformed R to S.

Avery, MacLeod, McCarty

Purified transforming principle. Found it was DNA, not protein.

Hershey and Chase Experiment

Used Bacteriophages. Labeled DNA with P32 and Protein with S35. Found that only P32 (DNA) entered bacteria, proving DNA is hereditary material.

Structure of DNA

Discovery: Friedrich Miescher in 1869 discovered "Nuclein".

Components: Nucleotides composed of Deoxyribose sugar, Phosphate group, Nitrogenous bases (Adenine, Guanine, Cytosine, Thymine).

Chargaff's Rule: Amount of Adenine equals Thymine (A=T) and Guanine equals Cytosine (G=C).

DNA Replication

Models

  • Semi-conservative: (Correct) One strand conserved, one new.
  • Conservative: Parental double helix remains intact.
  • Dispersive: Parental DNA dispersed.

Meselson and Stahl Experiment

Used N15 (heavy) and N14 (light) isotopes. Grew bacteria in N15, then transferred to N14. 1st generation density was intermediate (hybrid). 2nd generation showed intermediate and light. Confirmed Semi-conservative model.

Process

  • Helicase: Unwinds DNA.
  • DNA Polymerase III: Main replicating enzyme. Adds nucleotides in 5' to 3' direction.
  • Primase: Adds RNA primer.
  • Leading Strand: Synthesized continuously.
  • Lagging Strand: Synthesized discontinuously as Okazaki Fragments. Joined by DNA Ligase.
  • DNA Polymerase I: Removes RNA primers and replaces with DNA.

Gene Expression (Central Dogma)

Flow of genetic information: DNA → RNA → Protein.

Transcription

Synthesis of RNA from DNA. Enzyme: RNA Polymerase. Steps: Initiation (Sigma factor binds Promoter), Elongation, Termination.

Types of RNA

  • rRNA (Ribosomal): Main constituent of ribosomes (site of protein synthesis).
  • tRNA (Transfer): Brings amino acids to ribosome.
  • mRNA (Messenger): Carries genetic code from DNA to ribosome.

Translation

Synthesis of protein from mRNA. Occurs on ribosomes. tRNAs bring specific amino acids matching mRNA codons. Steps: Initiation (AUG codon), Elongation (Peptide bond formation), Termination (UAA, UAG, UGA stop codons).

One Gene One Enzyme Hypothesis

Garrod: Studied Alkaptonuria and Albinism. Proposed enzyme defects cause genetic disorders.

Beadle and Tatum: Experimented on Neurospora crassa. Induced mutations with X-rays. Found mutants that could not synthesize specific amino acids. Concluded one gene specifies one enzyme (now One Gene One Polypeptide).

Mutations

Change in structure of DNA.

Point Mutations

Single base change.

  • Sickle Cell Anemia: Glutamic acid replaced by Valine in Hemoglobin.
  • Phenylketonuria: Phenylalanine hydroxylase defect.

Chromosomal Aberrations

Change in chromosome structure or number. Examples: Inversion, Deletion, Insertion (Translocation).

  • Down's Syndrome (Trisomy 21): Extra chromosome 21.
  • Klinefelter's (XXY), Turner's (XO).
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