Genetics

1) Gene: Genetic material on a chromosome for encoding a trait.

2) Locus: Location on chromosome where a gene is located.

3) Allele: Alternative form of a gene that allow for differences such as different hair or
fur colors

*Law of meiosis

1) Law of segregation: One member of each chromosome pair migrates to an opposite

pole in anaphase 1 so that each gamete is haploid. *Each gamete is left with one copy of
allele.

2) Law of independent assortment: The migration of homologues within one pair of

homologous chromosomes does not influence the migration of homologues of other
homologous pairs.

** Law of segregation dictates that when we form gametes, we separate allele copies so
the gametes can be haploid. The law of independent assortment states that the separation
of each pair of chromosomes is completely independent from the separation of any other
pair.

Menedelian genetics

1) Monohybrid cross: 2 organisms with variations at one gene of interest are crossed.

2) Dihybrid cross: 2 organisms with variations are two genes of interest on different
chromosomes are crossed.

3) Test cross: When the genotype of an organism expressing the dominant phenotype is
unknown, the unknown organism is cross with a homozygous recessive organism to
determine the unknown is homozygous dominant or heterozygous dominant.
 *Incomplete dominance: Blending of expressions of alleles.

Ex. Red and white crossed and get pink.

*Codominance: Both inherited alleles are completely expressed.

Ex. Blood type AB

Gene interaction

1) Epistasis: The process in which one gene affects the phenotypic expression of a
second gene.

Ex. Bald hair gene cover any hair color gene.

2) Pleiotropy: When a single gene has more than one phenotypic expression.

3) Polygenic inheritance: The interaction of many genes to shape a single phenotype

with continuous variation.

Ex. Pleiotropy is when single gene affects many phenotypes while polygenic
inheritance is when many genes affect a single phenotype.

4) Linked gene: When 2 or more genes reside physically close to one another on the
same chromosome and therefore cannot separate independently as they are inherited
together.

*Genes that are completely unlinked have 50% of recombination, and the
lower the percentage of recombination, the more likely the genes are linked
together.

*Greater recombination frequency means that the genes are located farther
apart on the same chromosome, so more likely to go under recombination.

5) Sex linked gene: A type of linked gene that refers to a single gene residing on a sex
chromosome that is inherited differently in males and females.

Ex. When a male (XY) receives an X chromosome from his mother, whether
a dominant or recessive trait on a X chromosome is expressed depends on
the mother as there is no copy on the Y chromosome.
 6) Sex-influenced genes: These differ from sex-linked genes in that the expression of
genes can be influenced by the sex of the individual carrying the trait.

Ex. Male has one recessive allele, he will show that trait, but it will take two
recessives for the female to show that same trait.

Phenotypic expression

- 2 individuals with same genotype does not mean have the same phenotype.

- Penetrance: The probability an organism with a specific genotype will express a

particular phenotype.

*Complete penetrance: Gene for a trait are expressed in all the population who have
the gene.

*Incomplete penetrance: Gene for a trait are only expressed in a percentage of the
population.

- Variable expressivity: The variation or range of phenotypes for a specific genotype.

Ex. Gene for red hair could result in light hair, or any range of color in
between.

Embryonic development

1) X-inactivation: During embryonic development in female mammals, one of the two

inherited X chromosomes does not uncoil into chromatin, and remains as a dark and
coiled and compact body, which remain as a Barr body. And the Barr body is not
expressed.

Ex. Hemophilia, a recessive condition which results in an inability to form

blood clots. XHXh is a normal carrier, but if XH (normal copy) is inactivated
then only Xh is expressed leading to disease onset.
 2) Nondisjunction: Describes when one or more chromosome pairs or chromatids fail to
separate during mitosis.

Ex. Meiosis 1 : n+1 n+1 n-1 n-1

Ex. Meioss 2 : n+1 n-1 n n

*Polyploidy: When all chromosomes undergo meiotic nondisjunction and

produce gametes with twice the number of chromosomes.

Human genetic defects

1) Point mutation: SINGLE nucleotide change causing mutation.

*Transition mutation involves conversion of a purine to purine or pyrimidine to

pyrimidine.

*Transversion mutation involves conversion of a purine to pyrimidine or vice versa.

2) Aneuploidy: A genome with extra or missing chromosomes, often caused by

nondisjunction.

Ex. Down syndrome: trisomy 21

Ex. Turner syndrome: When a female is either completely missing or partly

missing, an X chromosome, leading to the genotype XO.

Ex. Klinefelter’s syndrome (XXY), in which a male is born with an extra X

chromosome.

Genetic disorders

*Autosomal recessive conditions (PKU, Cystic fibrosis and Tay-sachs)

*Autosomal dominant conditions (Huntington’s disease, Achondroplasia,

Hypercholesterolemia)

*Sex linked recessive conditions (Hemophlia, color blindness, Duchenne’s muscular

dystrophy)
 *Chromosomal conditions (Down syndrome, Turners syndrome, Klinefelter’s
syndrome and Cri du chat)

Molecular genetics

- DNA backbone: Consists of 5 to 3 phosphodiester bonds to form a sugar phosphate

backbone.

**Prokaryotes have one origin of replication while eukaryotes have multiple origins of
replication.

DNA replication

1) 2nd chromatid contains a copy of DNA is assembled during interphase.

*S phase of interphase is when DNA replicates.

*Semiconservative replication (One strand is old and one strand is new)

2) Helicase is the enzyme that unwinds DNA, forming a Y shaped replication fork.

*Once unwound, SSBPs attach to each strand of uncoiled DNA to keep them
separate.

*Topoisomerases break and rejoining the DNA double helix of the replication fork,
allows the prevention of knots.

3) DNA polymerases move 3 to 5 directions only, and produce the strand that is
antiparallel (5 to 3)

**Leading strand works as more DNA unzips (Synthesized 5 to 3)

**Lagging strand (5 to template strand), the DNA polymerase must go back to the
replication fork and work away from it. It creates a fragment called Okazaki fragments.

**DNA ligase connects Okazaki fragments.

3) Primase is an enzyme that creates a small strip of RNA off of which DNA polymerase
 can work since it can only add to an existing strand.

**Polymerases 1 and 3 have 3’to 5’ exonuclease function. Exonuclease can only remove
from the end of the chain.

**Polymerase 3 has proofreading function.

*Polymerase 3 mainly replicates the DNA in the 5’ to 3’ direction but can also proofread in
the 3’ to 5’ direction via exonuclease function.

*Polymerase 1 breaks down the RNA primer in the 5’ to 3’ direction via exonuclease
function.

DNA synthesis

- mRNA: Single stranded template.

- tRNA: Transporter of anticodons. tRNA is held together by hydrogen bonds.

*UAA, UAG and UGA are stop codons.

- rRNA: The nucleolus is an assemblage of DNA actively being transcribed into rRNA,
which come together to form ribosomes.

*3 binding sites: one for mRNA, one for tRNA that carries the growing
polypeptide and one for 2nd tRNA that delivers the next amino acids.

Transcription

- Produce RNA molecules from a DNA template in the nucleus.

1. Initiation: RNA polymerase attaches to the promotor region on DNA and unzips
the DNA into 2 strands. (TATA BOX is the promotor region)

2. Elongation: RNA polymerase unzips DNA and assembles RNA nucleotides using
one strand of DNA as a template.

3. Termination: Occurs when RNA polymerase reaches a special sequence.

 *Transcription occurs in the 3’ to 5’ direction of the DNA template strand.

*Synthesis of RNA strand is always 5’ to 3’

Translation

- Assembly of polypeptides based on reading a new RNA in the cytoplasm with GTP
used as the energy source.

1) Initiation: The small ribosome subunit attaches to the 5’ end of mRNA. Large
ribosomal subunit attaches to form a complex. (Requires 1 GTP)

2) Elongation: Next tRNA binds to the A site, peptide bond formation occurs. The tRNA
in the A site move to the P site (Translocation) and the next tRNA comes into the A
site to repeat the process. (2GTP per link)

3) Termination: When ribosome encounter the strop codon (UAG, UAA or UGA), the
polypeptide and the 2 ribosomal subunits released

Mutation

1) Silent mutation: new codon still codes for the same aa, therefore the effect is
“Silenced.”

2) Non-sense mutation: The new codon codes for a stop codon.

3) Neutral mutations: No change in protein function.

4) Missense mutations: A new codon codes for a new aa.

*Proofreading: DNA polymerase checks base pairs.

*Mismatch repair: Enzymes repair the errors DNA polymerase missed.

*Excision repair: Enzymes remove nucleotide damaged mutagens.

DNA organization

1) Nucleosome: Structure formed when DNA coiled around bundles of histone

proteins.

*Euchromatin: Chromatin is loosely bound to nucleosomes; present when DNA is

actively being transcribed.

*Heterochromatin: Areas of tightly packed nucleosome where DNA is inactive and

appears darker. (Contains lots of satellite DNA)

2) Transposons (Jumping gene): DNA segments that can move to a new location on
either the same or different chromosome

3) Pseudogenes: The human genome contains many types of DNA that do not
actually code or anything.

Molecular Genetics of viruses

Virus consists of

1) Nucleic acid: RNA or DNA that can be double or single stranded.

2) Capsid: A protein coat that encloses the nucleic acid.

3) Capsomeres: Assemble to form the capsid.

4) Viral envelope: Surround’s capsid of some viruses and incorporates phospholipids

and proteins obtained from the cell membrane of the host.

Bacteriophage: The virus that only attacks bacteria, usually very specific.

Viral replication

1) Lytic cycle: When the virus penetrates the host cell membrane and uses host
machinery to produce nucleic acids and viral proteins that are then assembled to
make new viruses (Burst out of the cell and infect other cells)

a. DNA viruses: Replicates by first replicating DNA and forming new viral DNA,
which is then transcribed to produce viral proteins that combine with DNA to
form new viruses.
 b. RNA virus: RNA serves as mRNA which is translated into protein.

c. Retroviruses: Single stranded RNA viruses that use reverse transcriptase make a
DNA complement of their RNA by hijacking the host cell’s replicating
macheinery.

2) Lysogenic cycle: When viral DNA is incorporated into the DNA of the host cell.

First phase: Dormant stage. The virus is referred to as a provirus and remains inactive
until an external stimulus triggers the virus.

Second phase: When its triggered, the virus enters the lytic cycle.

*Prions: Not a virus nor cells, but its infectious proteins in the brain that causes normal
protein to unfold. Its fatal.

*Viroid: Very very small virus. Circular RNA molecules that infect plants. Not encoded for
proteins but replicate in host plant cells via host enzymes, cause error.

*Bacteria are prokaryotes with no nucleus or organelles, consists of a single circular double
stranded DNA molecule (Tightly condensed called nucleoid) and have no histones.

**Bacteria lacks nucleus, thus no microtubules, and centrioles as well.

*Plasmid: Short, circular DNA outside of chromosomes that carry genes that are beneficial.

*Epistome: Plasmids that can incorporate into bacterial chromosomes.

**Plasmids are what help bacteria gain characteristics like antibiotic resistance.

1) Conjugation: Donor bacteria produces a bridge and connect to the recipient bacteria.

2) Transduction: DNA is introduced into a genome via virus

3) Transformation: Bacteria take in DNA from surroundings and incorporate it into the
genome
 Prokaryotic gene expression

1) Operon: Region of DNA that controls gene transcription.

*Promotor: Sequence of DNA where RNA POL attaches to being transcription.

*Operator: Region that can block action of RNA POL if occupied by repressor
proteins.

*Structural genes: DNA sequences that code for related enzymes.

*Regulatory genes: Located outside of operon region and produces repressor

proteins.

2) LAC operon: Controls the breakdown of lactose; The regulatory gene produces an
active pressor that binds to the operator and blocks RNA POL

*When lactose is available, lactose binds to the repressor and inactivates it. Therefore,
allowing RNA POL to transcribe the genes.

*Lactose induces the operon, and enzymes the operon produces as a result are termed
“Inducible enzymes”.

*Lac operon is not only controlled by lactose, signaling molecule cAMP plays a
regulatory role as well.

**When glucose is low, cAMP is high. cAMP binds to a CAP binding site of the
promotor, which enhances the binding and transcription via RNA POL, allowing lactose to be
broken down.

**IF lactose and glucose are both high, the operon shuts off. Because cAMP is low and
its wont bind to CAP. Bacteria uses one sugar at a time and prefers glucose.

Lactose present = Binds to repressor and RNA POL transcribe the gene.

Glucose is low = cAMP high. cAMP binds to promotor, allowing lactose to

be broken down.

Lactose and glucose both present = Operon shut off. Because cAMP is low
and its wont bind to CAP.
 4) TRP operon: Produces enzymes for tryptophan synthesis.

*Regulatory genes produce an inactive repressor, which allows RNA POL to produce
enzymes.

*When trp is available, no long need it internally. It binds to an inactive repressor and
activates the repressor, which binds to the operator and blocks RNA POL

Regulation of eukaryotic gene expression

1) Regulatory proteins: Repressors and activators that influences RNA POL

attachment to the promoter region.

2) Nucleosome packing

- Methylation of histones: Results in tighter packing that prevents transcription.

- Acetylation of histones: Uncoils chromatin, encouraging transcription.

- Direct DNA methylation: Epigenetic control of DNA that can be inherited and usually
leads to lower expression.

3) Micro RNA: Single stranded RNA molecules that bind to complementary RNA
sequences and either degrades the target or blocks its translation.