BI111 Lecture #2

 Each one of our cells come from our other cells a perfect copy, nothing in life is perfect
mutations happen.
 Mutations are inevitable, each of us carry mutations that are new and not from our
parents.
Road to phenotype:
(Written format to amino acid)
Transcription  translation: (cell needs to produce, enzyme comes in and unzip the specific area
and use on of the two strands as a template) adds tail, cut out sections, we call introns from the
sequence, which will be fed to produce amino acids.
Different ways to edit RNA for different coding sequences, mutations could happen on introns
nothing will happen because they will be removed.
Three letter words = codons <- combination of amino acids will you build.
Genetic code is universal has not changes, all combinations are represented, some codons code
for same thing (specificity and redundance)
Codons create protein polypeptide chain.
Four groups of mutations:
1. Missense mutations – single substitution happening, change in the base pair (change in
what amino acid is present)
2. Nonsense mutations – single substitution, codes for stop codon. Protein nonfunctional
proteins.
3. Silent mutations – change happening no amino acid change because of redundancy.
Single substitution
4. Frameshift mutation – one or more loss of addition or subtraction. Read three letters a
time either gets shifted left or right (large impact of phenotype since everything shifts)
Sickle cell anemia: single mutations can have large impact.
Many alleles vary effects on phenotype: chromosome one set from mother and one set from
father.
Same sequence from parent: homozygous ex aa, AA
Different sequence from parent: heterozygous ex Aa, Aa
Ex. long hair vs short hair. There are 2 alleles: L (dominant short hair) l (recessive long hair)
(If you want cat with short hair need one dominant allele L from at least one parent. if want long
hair cat need recessive homozygous (ll) allele from both parents since recessive)
 BI111 Lecture #3
2 alleles
Homozygous
1. Dominant = recessive) LL)
2. Recessive = longhair (SS)
 Heterozygous – one dominant allele one recessive allele (gene that has short hair and
long hair) (LS)
 Epistatic – one gene effect the other gene (expression effects other part of allele)
 Pleiotropic – single gene effects other traits not just one ex. effects not just pigmentation
but also hearing.
 Melanophilin: involved in pigmentation in growing hair.
 2 alleles
 D (dominant) – functional melanophilin
 d recessive less functional (hair colour is diluted)
 piebald spotting gene: White patches on car
 Recessive: No white hair
 Dominant: lots of white hair
 Partial/ incomplete dominance: some white hair
 Modifies genes produces different phenotypes a wide variety.
 Autosomal genes: one copy from mother one copy from father
 Not all are located on autosomal genes some are on sex chromosomes: ex red gene
located on the x chromosome (determine if there is red variation on fur)
Sex chromosomes; homogametic (same) and heterogametic (Different) sex:
 Different sex developmental pathways on sex chromosomes
 X and Y
 XX female XY male
 W and Z chromosomes in other birds
 WZ female ZZ male
 Diversity of sex determination systems (plant and animal clades)
Heterogametic inherited one copy chromosome  one copy of a recessive allele results in
expression of trait
Dosage compensation: equalize expression of genes between members of different biological
sexes.
Mammals X inactivation: homogametic sex one of the chromosomes become tagged and is
inactive only comes in active if cell needs to divide, it will always be the same chromosome that
becomes in active.
Heterogametic sex – inherit one chromosome from parent (2 possible outcomes)
Homogametic sex – inherit two chromosomes (3 possible outcomes)
Dosage compensation:
Hairless cats – produced by diff alleles (diff dominances)
TYR gene (aka “C”) contains instructions on how to produce enzyme tyrosinase.
TYR genes are temperature sensitive.
Ex. Burnese cats - cooler temp affects melanin and can change colour of fur
Principle of independent assortment – shuffling oh chromosomes
Genetic contributions of mother and father
Each chromosome is randomly assigned and genetically diverse.
Genetic recombination – shuffling of genetic material between sisters.