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DNA Replication, Gene Expression, Cell Cycle, Mitosis, Meiosis, and Mendelian Genetics

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DNA Structure and Replication

DNA Structure

  • DNA (Deoxyribonucleic Acid) is a double helix composed of two antiparallel strands.

  • Each strand has a 5' phosphate group and a 3' hydroxyl group.

  • Nucleotide pairing: Guanine (G) pairs with Cytosine (C) (3 hydrogen bonds), and Adenine (A) pairs with Thymine (T) (2 hydrogen bonds).

  • Strands are complementary and antiparallel (one runs 5' to 3', the other 3' to 5').

DNA Replication

  • Replication is semiconservative: each new DNA molecule contains one parental and one new strand.

  • Initiation begins at specific sites called origins of replication.

  • Helicase unwinds the DNA double helix.

  • Primase synthesizes a short RNA primer to provide a starting point for DNA synthesis.

  • DNA polymerase extends the new DNA strand from the primer, always synthesizing in the 5' to 3' direction.

  • After extension, the RNA primer is removed and the gap is filled with DNA.

  • DNA ligase seals nicks in the sugar-phosphate backbone.

Key Enzymes and Functions

Enzyme

Function

Helicase

Unwinds DNA double helix

Primase

Synthesizes RNA primer

DNA Polymerase

Extends DNA strand from primer

Ligase

Seals nicks in DNA backbone

Example: If the template strand is 3'-AGCT-5', the new strand will be 5'-TCGA-3'.

Gene Expression: Transcription and Translation

Transcription

  • Transcription is the process of synthesizing RNA from a DNA template.

  • Promoter: DNA sequence where RNA polymerase binds to initiate transcription.

  • Terminator: Sequence signaling the end of transcription.

  • RNA polymerase synthesizes RNA in the 5' to 3' direction, using the DNA template strand (which is read 3' to 5').

  • In eukaryotes, the initial RNA transcript (pre-mRNA) undergoes splicing to remove introns.

Translation

  • Translation is the process of decoding mRNA into a polypeptide (protein).

  • Occurs in the ribosome, involving mRNA, tRNA (transfer RNA), and rRNA (ribosomal RNA).

  • Each codon (three nucleotides) codes for one amino acid.

  • tRNA molecules bring amino acids to the ribosome, matching codons via their anticodons.

  • Ribosome sites: E (Exit), P (Peptidyl), A (Aminoacyl).

Key Terms

  • mRNA: Messenger RNA, carries genetic code from DNA to ribosome.

  • tRNA: Transfer RNA, brings amino acids to ribosome.

  • rRNA: Ribosomal RNA, structural and catalytic component of ribosomes.

Example: If the DNA template has an A, the RNA will have a U (uracil) opposite it.

Cell Cycle and Mitosis

Cell Theory

  • All living organisms are made of one or more cells.

  • The cell is the basic unit of life.

  • All cells arise from pre-existing cells.

Cell Cycle

  • The cell cycle is the series of events that cells go through as they grow and divide.

  • Phases: G1 (growth), S (DNA synthesis), G2 (preparation for division), M (mitosis/cytokinesis).

  • Checkpoints regulate progression and ensure errors are corrected.

  • Cancer cells bypass checkpoints, leading to uncontrolled division.

Mitosis

  • Mitosis is a type of cell division resulting in two genetically identical daughter cells (asexual reproduction, growth, repair).

  • Stages:

    • Prophase: Chromosomes condense, centrosomes move to poles.

    • Prometaphase: Nuclear envelope breaks down, spindle fibers attach to kinetochores at centromeres.

    • Metaphase: Chromosomes align at the metaphase plate.

    • Anaphase: Sister chromatids separate and move to opposite poles.

    • Telophase: Nuclear envelope reforms, chromosomes decondense.

    • Cytokinesis: Division of cytoplasm, forming two cells.

Key Terms

  • Chromosome: Long DNA molecule with associated proteins.

  • Genome: Entire set of genetic material in a cell.

  • Diploid (2n): Two sets of chromosomes.

  • Haploid (1n): One set of chromosomes.

  • Homologous chromosomes: Chromosome pairs with same genes but possibly different alleles.

Example: Humans have 23 pairs of chromosomes (46 total).

Meiosis and Genetic Variation

Meiosis

  • Meiosis is a type of cell division that produces four genetically unique haploid gametes (sperm or egg cells).

  • Occurs in gonads (testes or ovaries).

  • Consists of two divisions: Meiosis I and Meiosis II.

  • Meiosis I: Homologous chromosomes pair (synapsis), recombine (crossing over), and separate, reducing chromosome number by half (2n → 1n).

  • Meiosis II: Sister chromatids separate (like mitosis), resulting in four haploid cells.

Stages of Meiosis

Stage

Main Events

Prophase I

Chromosomes condense, homologs pair (synapsis), crossing over occurs

Metaphase I

Homologous pairs align at metaphase plate

Anaphase I

Homologous chromosomes separate

Telophase I & Cytokinesis

Two haploid cells form

Meiosis II

Sister chromatids separate, four haploid cells result

  • Genetic variation arises from crossing over (recombination) during Prophase I and independent assortment of chromosomes.

Example: After meiosis, each gamete contains a unique combination of alleles.

Mendelian Genetics

Basic Concepts

  • Genotype: Genetic makeup of an organism (e.g., AA, Aa, aa).

  • Phenotype: Observable traits (e.g., purple or white flowers).

  • Homozygous: Two identical alleles (AA or aa).

  • Heterozygous: Two different alleles (Aa).

  • Dominant allele: Expressed trait (e.g., A).

  • Recessive allele: Masked in presence of dominant (e.g., a).

  • Alleles: Alternative forms of a gene.

  • Autosome: Non-sex chromosome.

Inheritance Patterns

  • Gametes from a heterozygote (Aa) will carry either A or a, not both.

  • Dominant traits mask recessive traits in heterozygotes.

  • Some traits may show incomplete dominance (blending of traits).

Example Table: Genotype and Phenotype

Genotype

Phenotype

AA

Dominant trait (e.g., purple)

Aa

Dominant trait (e.g., purple)

aa

Recessive trait (e.g., white)

Example: In pea plants, purple flower color (A) is dominant to white (a).

Additional Key Terms and Concepts

  • Sister chromatids: Identical copies of a chromosome, connected at the centromere.

  • Daughter chromatids: Chromatids that have separated during cell division and are now individual chromosomes.

  • Homologous chromosomes: Chromosomes of the same size and shape, carrying the same genes but possibly different alleles.

  • Nonhomologous chromosomes: Chromosomes that differ in size, shape, and gene content.

Example: Blue and red chromosomes in diagrams often indicate chromosomes from different parents.

Summary Table: DNA, RNA, and Protein Synthesis

Process

Template

Product

Direction

DNA Replication

DNA

DNA

5' to 3'

Transcription

DNA

RNA

5' to 3'

Translation

mRNA

Protein

N-terminus to C-terminus

Additional info: Some explanations and definitions have been expanded for clarity and completeness, including the distinction between sister and daughter chromatids, and the summary tables for enzyme functions and inheritance patterns.

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