GENETICS I - Pierce

INDEX

PART 1 – UNIT 2 & 5: The Cell

PART 2 – UNIT 1 & 3: Overall mendelian genetics
PART 3 – UNIT 4 & 6: Linkage and quantitative genetics

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 PART 1: The Cell
UNIT 2: Chromosomic basis of inheritance
2.1. Chromosomes

Chromosomes consist of a single chromatid, or two of them linked (sister chromatids).

Each cell has organized the chromatin in a set of two single (separated) chromatid
called homologous pair. One chromatid belongs to the father, the other is from the mother;
both have the same trait characteristic function. In mitosis, each chromosome from the
homologous pair is duplicated, giving rise to sister chromatids.

Summarized morphology of chromosomes:

2.2. Cell cycle: Interphase

The phases of the cell cycle is determined by Chekpoints. Nuclear membrane is present
and chromatin is decondensed.

Interphase is divided in 3 phases: G1, S and G2.

In the phase G1, the cell grow and required proteins for cellular division are being
synthesized. *The Chekpoint G1/S keep the cell in G1 until enzymes are synthesized for DNA
replication.
Before entering the G1/S Chekpoint, cell cycle can be stoped by regulatory sings. This is
the phase G0, and can be temporal or undefined.

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 In the phase S, each chromosome is duplicated (sister chromatids). Mitosis doesn’t
happen if chromosomes are not duplicated. In the phase G2, other biochemical processes give
rise.
Then, the Chekpoint G2/M secure that the DNA is totally duplicated without any error.
If all is well, mitosis may happen.

2.3. Cell cycle: Mitosis

Sister chromatids separate and the cell undergoes division. It’s important to keep in
mind that the M phase is a continious process and that its separation into these six stages is
somewhat arbitrary.

Some things to detail:

-Prometaphase. During prometaphase, tubulin molecules are added to and removed

from the microtubules, causing them to undergo repeated cycles of growth and shrinkage.
When the end of a microtubule encounters a kinetochore, the microtubule becomes stabilized.
-Metaphase. The passage of a cell through the spindle-assembly Chekpoint depends on
tension generated at the kinetochore as the two conjoined chromatids are pulled in opposite
directions by the spindle fibers. This tension is required to pass through the spindle-assembly
Chekpoint, and to become anaphase. If any problem happen in the Chekpoint, abnormal
numbers of chromosomes may destroy cells.
-Anaphase. Chromosome movement is due to the disassembly of tubulin molecules at
both kinetochore and disassembly of tubulin molecules at both kinetochore end and the
spindel end of the spindle fiber.
-Telophase. In many cells, cytokinesis is simultaneous with telophase.

Beggining of each phase

Prophase: Nuclear membrane exist and chromosomes are visible
Prometaphase: No nuclear membrane and mitotic spindle joins kinetochore
Metaphase: Metaphase plate UGR2023 3/11
Anaphase: Separation of chromatids
Telofase: Marked by the arrival of the chromosomes at the spindle poles
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2.4. Cell cycle: Meiosis

Phases of sexual reproduction: meiosis and fertilization.

Two phases of meiosis: meiosis I (reduction division) and meiosis II (equational

division).

MEIOSIS I

1. Prophase I:

-Leptotene. Chromosomes condense and are visible

-Zygotene. More condensation. Homologous chromosomes pair up (centromere level)
triggering synapsis. This 4 chromatids in synapsis are called tetrad.
-Pachytene. Chromosomes becomes more short and thick. Crossing over and
recombination occurs.
-Diplotene. Bivalents condensation increases. Homologous chromosomes begin to
separate at centromere level, but they keep joined by chiasmata.
-Diakinesis. Very high condensation level. Centromeres of each homologous pair
initiate co-orientation toward opposite poles.

*The number of chiasmata depend on the chromosome’s size.

2. Metaphase I:
-No nuclear membrane.
-Chromosomes line up on the metaphase plate.
-Spindle microtubules join to each kinetochore side.

3. Anaphase I:
-Homologous chromosomes separate.
-They move to the opposite poles by microtubules.

4. Telophase I:
-Each homologous chromosome is in the opposite poles.
-Cytokinesis.

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MEIOSIS II

Interkinesis is the intermediate phase between Meiosis I and II. Chromosomes

becomes descondensed again, nucleus forms and spindle brokes, like in interphase. Some cells
go into interkinesis and others go directly to Metaphase II.

1. Prophase II:
-Chromosomes condense.
-Meiotic spindle form.

2. Metaphase II:
-Individual chromosomes line up on the metaphase plate.
-Sister chromatids face opposite poles.

3. Anaphase II:
-Sister chromatids are separated and move to opposite poles.

4. Telophase II:
-New chromosomes are in opposite poles.
-Citokinesis.

*From 2 divisions, we get normally 4 reproductive cells.

2.4. Sources of genetic variations in Meiosis

There are two sources: Crossing over and random separation of homologous
chromosomes.

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UNIT 5: DNA replication
5.1. Circular DNA replication

THETA REPLICATION (bacteria)

In the Origin of Replication, double-stranded DNA begins to unwind, producing single-

stranded nucleotides that serve as templates on which new DNA can be synthesized. A
replication bubble forms, which extremes has a replication folk that continious the syntesis.
Replication can be in both or just one extreme.
Once the process ends, we got two copied DNA circular molecules.

ROLLING-CIRCLE REPLICATION (virus and F factor of E. colli)

It initiates when a strand is broken, and creates a 3’-OH and a 5’-phosphate group.
Nucleotides join to the 3’-OH group copying the information while rolling out the 5’-phospate
extreme.
Then, we got a cleaved and separated single-stranded DNA molecule, which can form a
new double-stranded DNA by adding their corresponding nucleotides. This cicle can be
repeated.

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5.2. Lineal eukaryotic DNA replication

In eukaryotic cells we have more than one

Origin Replication, because of the huge number of
nucleotides. Each DNA stretch that is unwind and
replicated from one origin replication is called
replicon.

In each origin, a replication bubble is formed,

which grows in both extremes until other replication
folk from other replicon touch. Then, new double-
stranded DNA molecules are formed. This, as others
replication types, are semiconservative.

5.3. Requirements and direction of

Replication

Requirements of repliction:

-1. A single-stranded DNA template.

-2. Substrates to be assembled.
-3. Enzymes and other proteins which
determine the union of substrates.

DNA is synthesized in 5’ to 3’ direction,

because DNA polymerases only add nucleotides at 3’
extreme.

As we know, double-stranded DNA is

antiparallel. So, both chains have 2 different
directions.

5.4. Types of lineal replication

Continious replication is done when synthesis replication is from 5’ to 3’, and

discontinious replication is when synthesis replication is from 3’ to 5’. The continious
synthesized single-stranded DNA is called leading strand. The discontinious one (contrary to
leading strand) is called lagging strand.

DNA is unwinded in segments. This segments produce the fragmentation in the lagging
strand. And each fragmented single-stranded DNA from laggin strand is called Okazaki
fragments. Then, all Okazaki fragments end up together, forming 2 new double-stranded DNA.

*The beggining of replication (continious and discontinious) in the template strand

occurs because of primers (RNA molecules), which add the 3’-OH needed. At the end, they
are replaced by DNA nucleotides.

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5.5. Replication at the End of Choromosomes

Lineal DNA doesn’t have any primer/nucleotide in their extremes to seal it, is the
opposite of what happens with circular DNA. Then, lineal DNA is unstable because the 3’-OH
end is not attached.

Nevertheless, telomerase is present in single-cell organisms, germ cells, early

embrionic cells and certain proliferative somatic cells. It provides the shortening of
chromosomes by lengthening them periodically.

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 PART 2: Overall mendelian genetics
UNIT 1: Mendelian genetics
Mendel’s laws of inheritance:

-Law of dominance and uniformity:

Some alleles are dominant while others are recessive; an organism with at least
one dominant allele will display the effect of the dominant allele.

-Law of segregation:
During gamete formation, the alleles for each gene segregate from each other so
that each gamete carries only one allele for each gene.

-Law of independent assortment:

Genes of different traits can segregate independently during the formation of
gametes.

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 PART 3: Linkage and quantitative genetics
UNIT 4: Linkage map
When genes are close together on the same chromosome, crossing over still occurs, but
the result (in terms of types of gametes produced) is different. Instead of segregating
independently, genes tend to "stick together" during meiosis. That is, the alleles of genes that
are already together on a chromosome will tend to be transmitted as a unit to gametes.
In this case, the genes are linked.

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