2017.08.30 Chromosomal Basis of Inheritance - Pre

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The Chromosomal Theory of inheritance
pre-dated our understanding of DNA as the genetic
material

We now understand that chromosomes carry genes,


which are DNA sequences.
Cells in diploid organisms carry two of each
chromosome

For humans:
diploid number (2n) = 46
haploid number (n) = 23
Chromosome number and arrangement can change over
evolutionary time

• Human chromosome 2 is the result of a fusion between two ancestral


ape chromosomes
• Human chromosome 2 carries the same genes as chimp chromosomes 2a+2b
In eukaryotes, transmission of genetic material
from one generation of cells to the next involves
mitosis and meiosis

• Mitosis leads to production of two daughter


cells, each with the same number of
chromosomes as the parent cell:
2n  2n

• Meiosis leads to production of gametes, each


with half the number of chromosomes:
2n  1n
Cell division is an essential part of growth,
development, and reproduction

When a diploid cell undergoes


mitosis, it produces two daughter
cells that each carry two complete
sets of chromosomes.

2n  2n
Cells undergo a continuous alteration between
division and non-division (the “cell cycle”)

the cell cycle consists of Mitosis (the division phase)


and Interphase (the non-division phase)
Figure 2-5
Cells can exit the cell cycle and enter the quiescent
G0 (“G zero”) stage

A quiescent cell is neither dividing nor preparing to


divide, but may later re-enter the cell cycle.
Figure 2-5
During S phase (a part of Interphase), the cell’s DNA
is replicated to produce two identical copies

During Mitosis, a complete copy of the cell’s DNA is


distributed to each daughter cell
Figure 2-5
In eukaryotes, DNA is found in the cell nucleus
in preparation for cell
during most of the cell division, DNA is
cycle, DNA exists in an replicated and
unfolded state known condensed into
as chromatin chromosomes

interphase chromatin mitotic chromosomes


Structure of a condensed mitotic chromosome

1 chromosome

1 chromosome

2 chromosomes

Since mitosis occurs after DNA replication, each mitotic chromosome


contains two identical DNA molecules. These are “sister chromatids”.
Structure of a condensed mitotic chromosome
The centromere is the point
of connection between
sister chromatids.

The centromere is also


where spindle fibers will
attach to the chromosome
during mitosis.

Centromere location can


vary between different
chromosomes.
Chromosomes exist in homologous pairs in diploid
organisms

Human karyotype: this cell contains two of each chromosome


(except X and Y)
Figure 2-4
Chromosomes exist in homologous pairs in diploid
organisms
Homologous chromosomes
can be identified by their
similar size and centromere
position

One homolog is “maternal”,


the other is “paternal”.

Homologous chromosomes
carry the same genes, but
may carry different alleles.

Figure 1-2
DNA replication produces identical sister chromatids
homozygote

DNA replication
(S phase)

heterozygote

DNA replication
(S phase)
sister
chromatids non-sister
chromatids

maternal paternal maternal paternal


chromosome 1 chromosome 1 chromosome 2 chromosome 2

homologous chromosomes homologous chromosomes


Mitosis has discrete stages:

• Prophase
• [Prometaphase]*
• Metaphase
• Anaphase
• Telophase

* Prometaphase is usually not considered a discrete stage of


mitosis, but is included in our textbook figures.
Interphase (not part of mitosis)
Chromosomes are
extended and uncoiled,
forming chromatin.

The cell spends most of its


time in interphase.

DNA replication occurs


during interphase (S phase).
Prophase

• Chromosomes condense.
Sister chromatids are
already attached at the
centromere.

• The nuclear envelope


breaks down.

• Centrioles migrate to
opposite poles.
(Prometaphase and) Metaphase

• Spindle fibers
form.

• Chromosomes
align at metaphase
plate.
Anaphase

• Centromeres split, and


sister chromatids separate
(disjunction).

• Sister chromatids are now


daughter chromosomes.

• Daughter chromosomes
migrate to opposite poles.
Telophase

• Daughter chromosomes
arrive at opposite poles.

• Cytokinesis (division of
the cytoplasm) occurs.

• Chromosomes
decondense and nuclear
envelope re-forms.
Stages of mitosis:
summary

Prophase

Metaphase

Anaphase

Telophase
One round of mitosis in a lily cell:
https://www.youtube.com/watch?v=aDAw2Zg4IgE

Multiple rounds of synchronized mitosis in the early


Drosophila embryo:
https://www.youtube.com/watch?v=sBcbXzamai4
Mitosis produces two daughter cells that are genetically
identical to the parent cell, and to each other.
Mitosis produces two daughter cells that are genetically
identical to the parent cell, and to each other.

chromosomes chromatids
replicate separate
Next time: Mitosis vs Meiosis

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