Chromosomes

• W. Flemming, 1880s found clues to physical nature of gene

– Had fine scope lenses
– Used chemical dyes that cling to certain cellular structures
– Published drawings of dividing cells from salamander embryos

• Chromosomes are apportioned to daughter cells during mitosis

– Flemming named mitosis sequence of events during cell division
– Occurs in eukaryotic cells & is used for growth, repair, cell replacement
– Involves vast reorganization of cell interior

Homologous Chromosomes

• Chromosomes come in matched pairs
• Their number is characteristic of species

– Humans – 46
– Chimpanzee – 48
– Fruit flies – 8

Homologous Pairs of Chromosomes

• Human cells have 23 homologous pairs
• After mitosis

– 2 daughter cells
– Each have 46 chromosomes with 23 homologous pairs

• In males of some species

– 1 pair of homologous chromosomes is not exactly homologous
– Y vs. X – sex chromosomes

Cytogenetics

• Walter Sutton:

– “The two members of each homologous pair of chromosomes carry alleles for the same genes & therefore affect the same traits.”

• Different alleles are called heterozygous
• The same alleles are called homozygous

Genes, Loci, and Alleles

• Gene

– Segment of DNA that determines a particular trait

• Locus (loci, plural)

– Where that gene is located on a particular chromosome

• Allele

– Variation of the gene’s trait that is expressed

Chromosomal Theory of Inheritance

• Sexual reproduction where

– Male and female gametes
– Fuse to form zygote (fertilization)

• Number of chromosomes donated by male and female

– Are equal, but
– Chromosome number within species stays constant

Meiosis: Reduction of Chromosome Number

• Meiosis is the prelude to sexual reproduction

– Multiplies number of cells but
– Also reduces chromosome number in each daughter cell to

• Exactly half the number present before meiosis

• Meiosis is the prelude to sexual reproduction

– Daughter cells get

• 1 member of each homologous pair, i.e. 1 allele for each gene

– Mitosis produces 2 daughter cells
– Meiosis produces 4 daughter cells

• Cells with both members of each homologous pair are diploid

– All body cells in humans are diploid, except gametes
– Cells with 1 member of each homologous pair are haploid
– Meiosis produces 4 daughter cells

The Cell Cycle

• Mitosis, meiosis, and cytokinesis are single steps in cell cycle

– Cells not in process of dividing are in interphase
– Chromosomes are duplicated in preparation for the next round of division during interphase

Phases of the Cell Cycle

• M phase

– Chromosomes are

• Separated into 2 nuclei (mitosis) and
• Nuclei are apportioned into 2 separate cells (cytokinesis)
• Interphase

– Period of

• Active metabolism growth,
• Processing of nutrients and
• Energy

Control of the Cell Cycle

• The cell cycle is highly regulated
• If a cell breaks free of its parent organ it starts to grow uncontrollably – metastasize
• Cell cycle control is focused at 2 places

– Before genetic material synthesis
– At transition between G2 and M phase

Regulating Agents of the Cell Cycle

• Regulating agents are proteins whose concentrations rise & fall in a controlled manner
• If agent concentration is high

– Cycle progresses; if it is low,
– Cycle is suspended

• Cell cycle control – focused 2 places

Control of Regulating Agents

• Regulating agents can be controlled by proximity of other cells
• Regulating agents can be controlled by factors inside the cell itself

Control of the Cell Cycle

• Internal & external stimuli activate or inhibit regulating agents
• These, in turn activate enzymes to help cells divide
• Internal checkpoints & guardians monitor cell health
• Errors in this process can lead to uncontrollable growth and cancer

Linkage and Sex Linkage

• Meiosis lead to the chromosomal theory of inheritance
• But there was a lack of correlation between the number of traits and the number of chromosomes
• Grouping of many genes, on 1 chromosome explains why 7 traits studied by Mendel assorted independently

Exchange & Movement of Genetic Material

• Results from Morgan’s lab suggested all traits in a linkage group are not inherited together
• Phenomenon called crossing-over,  Parts of one member of pair cross over to homologue
• In 1940s, B. McClintock found evidence that certain genes jump from place to place in chromosomes
• In 1960s, others found evidence of jumping genes, calling them transposons

Chemical Nature of the Gene: DNA or Protein?

• Chromosomes are both protein and nucleic acid
• In 1860s, nucleic acid was found to have properties in common with chromatin
• By 1881, nucleic acid was localized to chromosomes and found in every organism
• Protein seemed at the time to be a better candidate for genetic material
• Protein is the most complex, varied, and ubiquitous substance in living cells
• Protein plays many roles in cells and is present in the chromosome

The Evidence for DNA

• Inheritance of polysaccharide capsule in Pneumococcus
• Pneumococcus occurs in 2 forms:

– S form – highly virulent
– R form – harmless

• Difference between R & S forms: polysaccharide capsule in S form

• In 1928, F. Griffith studied S & R pneumococcus on mice and found

– Harmless R bacteria transformed into virulent  S pneumococci
– When it was mixed with heat-killed S bacteria

• Further studies (1944) found that DNA was the transforming agent

DNA Structure

• Nucleic acids

– Deoxyribonucleic acid (DNA) and
– Ribonucleic Acid (RNA)

• Each made from nucleotides composed of 3 building blocks:

– A phosphate group
– Five-carbon sugar
– Nitrogen-containing base

• Nucleotides are hooked together by condensation-dehydration reactions
• Both DNA and RNA have phosphate groups
• Sugar in RNA - ribose, sugar in DNA - deoxyribose
• Both DNA and RNA use the base cytosine, adenine, guanine, but
• RNA has the pyrimidine uracil, while DNA contains the pyrimidine thymine instead

 

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