Lecturer: Baker

General Genetics Terminology

Genetics: the study of inheritance of variation
Molecular genetics: explores the principles and consequences of the
central dogma (DNA --> RNA --> protein)
Genes: units of hereditary that are the components of the genotype
Genotype: the hereditary component of variation
Phenotype: sum total of observable traits/properities of an individual
What are genes?
inheritance of some traits through the combination of discrete factors not via
mixing
Genetic alleles: discrete factors from each parent that reside on
chromosomal loci
Why are some mutations dominant and some recessive?
Usually dominant allele makes a functional protein (GOF), and the recessive
allele does not (LOF).
o Not always true
General types of mutations: change in aa sequence
o Gain of Function
o Loss of Function
o No change
Why have two copies of each gene?
Redundancy offers protection against lost of function mutations
Another reason why most mutations are recessive (because they can be
maintained within diploid organisms due to the redundancies of alleles)
Recessive lethal= mutations in essential genes leading to nonfunctional
proteins
o Drosophila & zebrafish: 1-3/organism
o Humans: unknown (est. handful based on inbreeding)
Inbreeding is a problem because of the maintenance of
mutations
Simple Complementation test
Objective: determine if two mutations exhibiting the same phenotype are
located on one locus or multiple loci
Assumptions: (Are there other assumptions?)
o Diploid organisms intercross
o Haploid organisms need to form a heterokaryons (the ability to share
alleles)
Fungal cells fuse to form a diploid-like cell that can complement
genetic alleles
o Recessive alleles (ex. "$" mutation)
Does the recessive allele have to be a loss of function allele?
Cannot be used with dominant alleles
o Phenotype of recessive mutations is the same (ex. White flowers)
Method:
o Cross two homozygous recessive allele mutations with the same
phenotype (ex. $$ x )
 o Observe phenotype from F1 progeny and determine if
complementation occurs (ex. No flower color)
Results:
o Complementation: mutations on different loci
Observe: phenotype differs from parental phenotype
One mutation complements the other allowing a different (wild
type/dominant?) phenotype to be observed
Ex. Parent = white, F1 = blue
o No complementation: mutations on same loci
Observe: phenotype is the same as the parental phenotype
Mutations do not complement each other resulting in the
recessive phenotype
Ex. Parent = white, F1= white
 References:
o Intro to Genetic Analysis, 2000
Meiosis
Terminology:
o Chromatid: genetically unique and containing one allelic copy
o Chromosome/chromosome pair: maternal and paternal chromatids
o Sister chromatids: replicated chromatid; the juxtaposed pair of
chromatids arising from DNA replication. Sister chromatids segregate from
each other during meiosis II.
Only together during preleptotene --> pachytene
o Homolog: a member of the pair of homologous chromosomes in a
diploid. Homologs segregate from each other during meiosis I
o Clone: collection of cells or individuals related by mitosis only
o Somatic cells:
Chromosomes: 23 (n)
Replicated strands: 46 (2n) --> Diploid
o Gametes:
Chromosomes: 23 (n)
Replicated strands: 23 (n) --> Haploid
Meiosis I
o Prophase I: DNA replication and crossing over
Preleptotene: DNA replication occurs (2n --> 4n)
Chromosomes: 23
Replicated strands: 92
Leptotene: chromosomes condense (ribbon-like)
Zygotene: chromosomes form synapse (zippering)
Synaptonemal complex formation: recombination module
dsDNA breaks
Telomeres attached to the nuclear membrane via lamins
Pachytene: synapsis occurs and completes
Diplotene/Diakinesis: chromosomes repel each other
Chiasmata: DNA remains connected after crossing over
o Metaphase I: alignment of homologous chromosomes along central
plate
o Anaphase I: allelic segregation
One kinetochore at centromere (in contrast to 2
kinetochores/chromosome pair in mitosis)
Causes sister chromatids to move in the same direction
o Telophase I & Cytokinesis: Cell pinches and forms 2 daughter cells (2n)
Meiosis II
o Prophase II: envelop breaks down and spindle apparatus forms
o Metaphase II: sister chromatids align at metaphase plate
 o Anaphase II: sister chromatids are separated and moved towards
opposite poles
o Telophase II and Cytokinesis: cell pinches and forms 2 daughter cells
(total of 4) (n)
Spermatogenesis: sperm production continuous throughout life (24 days)
o Weak DNA repair
o Several weeks in haploid phase
o Cytoplasmic bridges:
Protein coupling: allows material to be shared among connected
cells
Ultimately allow defective alleles to be maintained
Oogenesis: all events up to diplotene occur as embryo until puberty
Importance of understanding meiosis
o Strong evidence for the Mendelian view of heredity came from
chromosome behavior in meiosis, which parallels transmission of alleles in
inheritance (what does this mean exactly? expand on this)
o Reproductive health and fertility
o Basis for genetic mapping by recombination (what does this mean
exactly? expand on this)
Compare contrast Mitosis and Meiosis
Similar Different
Mitosis 1 round of Haploid or
replication diploid cells
Same 1 round of
general phases during division
second division 2 daughter
cells
Promotes
conservation between
generations
Meiosis Diploid cells
2 rounds of
division
4 haploid
daughter cells
Homologous
chromosome pairing and
segregation
Crossing over
(usually at least 1
crossover)
Promotes
variation between
generations
How general is Mendelian inheritance?
Simple Mendelian inheritance
 o 1:1 relationship between single genes and phenotype
o 1:2:1 correlation between genes and phenotypes
o Ex. Phenotypic sex
Deviations from Simple Mendelian inheritance
o Multifactorial inheritance: phenotype determined by more than one
gene
Many genes --> 1 phenotype
Ex. height
o Pleiotropy: one gene can affect more than one phenotypic trait
1 gene --> many phenotypes
Ex. Sickle cells anemia
o Variable penetrance/expressivity: the same genotype may produce
individuals that do or do not exhibit the phenotype (penetrance) or do so
to a varying degree (expressivity)
Penetrance: sometimes shows and sometimes does not
Expressivity: varying degrees to which the phenotype is shown
Not always distinct (penetrance vs. expressivity)
Ex. Wingless
Ex. C. elegans
Ex. DiGeorge Syndrome (VCFS): deletions in chromosome 22
Monozygotic twins differ
o Epistasis: mutations in one gene can obscure the effects of mutations
in another
Ex. White coat interfers with black or brown coat on the rabbits
Mendelian Ratios
o One gene ratio in F2: (1:2:1)
P: BB x bb
F1: Bb
P: Bb x Bb
F2: BB, Bb, bb (1:2:1)

Genotype Phenotype Ratio

Ratio
Parents --- ---
(RRYY x
rryy)
F1 RrYy (100%) Round and yellow
(100%)
F2 R See groupings:
RYY 1 9:3:3:1
R
RYy 2
R
rYY 2
R
rYy 4
 R-Y- 9

R
ryy 1
R
ryy 2
R-yy 3

rr
YY 1
rr
Yy 2
rrY- 3

R
ryy 1