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What is genetics the study of
heredity and variation
what does genetics explain
why organisms have certain traits (characteristics)
Morphological traits
appearance
physiological traits
function
behavioral traits
response to environment
what are proteins
“workhorses” of living cells
What does DNA do
stores information for synthesis of all proteins & ensures that proteins must be produced by the correct cell, at the correct time, and in suitable amounts
where is genetic info stored
in the linear sequence of bases
what does a codon code for
one amino acid
Gene expression process
DNA —> proteins
two steps of gene expression
transcription + translation
Process of Transcription
DNA —> mRNA
Process of translation
mRNA —> proteins
what are phenotypes determined by
genes and environment
Gametes VS. somatic cells
gametes are haploid sex cells, while somatic cells are diploid body cells
(Human female chromosomes are diploid = 46 chromosomes)
(human gamete chromosomes are haploid = 23 chromosomes)
what are homologues 99% similar based on
size
banding pattern
centromere location
genes
what is the 1% difference between genes
alleles
what happens in G2
growth
prepares to divide
nucleus is intact
Chromosomes NOT compacted
mitosis not yet begun
what happens during M phase
mitosis + cytokinesis
DNA replication and sorting
chromosomes divide
cell division
how are haploid gametes created
meiosis
what happens during DNA synthesis
chromosomes replicate
after S phase, how many chromatids do you have
2X as many as you started with
difference between mitosis and meiosis
meiosis has two divisions and does NOT clone
when does meiosis occur
after interphase
what happens during metaphase 1
chromosomes align on metaphase plate
what happens during anaphase 1
homologues separate but sister chromatids stay together
after meiosis 1:
1 diploid —> 2 haploids
2 homologues —> 1 homolog
what happens during prophase 1
physical exchange of chromosome pieces that result in exchange of genetic information
G0 vs G1
G0 is not dividing
G1 makes the division to divide and growth occurs
what happens during prophase
nuclear envelope begins to dissociate
chromatids condense
the miotic spindle begins to form
nucleolus disappears
what happens during prometaphase
centrosomes move to opposite ends of the cell
kinetochore microtubules capture chromatids
miotic spindle formed
what happens during telophase
chromosomes reach the poles and decondense
nuclear membrane reforms
organelles segregate
when does cytokinesis occur
after mitosis (telophase)
what does cytokinesis produce
separate daughter cells
(in animals: formation of a cleavage furrow & in plants: formation of a cell plate)
what happens during metaphase
pairs of chromatids align on the metaphase plate (head to tail)
each pair of chromatids is attached to both poles by kinetochore microtubules
what happens during anaphase
the connection between sister chromatids break
kinetochore microtubules and chromatids move to each pole
major difference between meiosis 1 and 2
metaphase 1: homologues align SIDE-BY-SIDE, 2 rows of homologues
Metaphase 2: chromosomes align HEAD-TO-TAIL, 1 row of chromosomes
Anaphase 1: homologues separate
Anaphase 2: sister chromatids separate
what was hippocrates “Pangenesis” theory
“seeds” produces by all parts of body, collected, and transmitted to offspring
what was Kolreuter “Blending hypothesis” theory
factors that control hereditary traits can vary
they blend together generation by generation
what were Mendel’s two approaches in studying pea plants
self-fertilization & cross fertilization
what are genes
unit of heredity that influences traits
what are alleles
different versions of the same gene
homozygous vs heterozygous
HOMO: two identical alleles
HETER: two different alleles
what is a genotype
an individual’s specific allelic composition
what is a phenotype
the outward appearance of an individual
linked assortment vs independent assortment
linked: parental genes inherit together
independent: parental genes DONT inherit together
what are recombinants
nonparentals
law of independent assortment
alleles of one gene segregate independently of alleles of another gene
law of segregation
homologues separate (meiosis 1)
when to reject null hypothesis
P<(or equal to)0.05
multiple wild type alleles
genetic polymorphism
mutant allele
a less common version of a gene
gain of function mutations
the gene gains a new or abnormal function
may be overexpressed, producing higher levels of the protein
dominant negative mutation
the mutant protein acts to antagonize the normal protein
haploinsufficiency
the mutant is a loss-of-function allele and one wild-type copy is not enough to provide function
incomplete penetrance
allele expected to cause a certain phenotype does not
heterozygote has intermediate new phenotype
overdominance
heterozygote advantage: heterozygote is better than either homozygote
three possible explanations to overdominance
heterozygote has increased disease resistance
homodimer formation
Differences in protein function
universal donor vs acceptor
Type O
Type AB
sex-influenced traits
autosomal (sex influenced)
allele is dominant in one sex and recessive in the other
sex limited traits
occur in only 1 sex
responsible for sexual dimorphism
may be autosomal or sex linked
lethal alleles
mutations in essential genes
pleiotrophy
multiple effects of a single gene on the phenotype of an organism
what is pleiotrophy caused by
gene product affecting cell function in multiple ways
gene expression in different cell types
gene expression at different stages of development
IA allele
adds A antigen
IB allele
adds B antigen
gene interactions
occur when 2 or more different genes influence the outcome of a single trait
gene redundancy
another gene has the same function
female chromosome
XX (homogametic sex)
male chromosome
XY (heterogametic sex)
what does the Y chromosome do for men
Promotes male development
how does the Y chromosome lead to male development
the SRY (sex determining region Y) protein binds to DNA and distorts it, altering expression of genes leading to testis formation
female bird chromosomes
ZW (heterogametic sex) (38 autosomes) (humans have 22)
male bird chromosomes
ZZ (homogametic sex)
insect chromosomes
female: XX
male: X0 (0 signifies no chromosome)
In this system (even with XY males), it is the ratio of X
chromosomes to autosomes that determines sex
• 1 X / 2n autosomes is male
• 2 X / 2n autosomes is female
chromosomes in bees, wasps, and ants
Female is 2n
• 32 chromosomes
• From fertilized egg
Male is n
• 16 chromosomes
• From unfertilized egg
dosage compensation
Level of gene expression of many genes on sex
chromosomes is similar in both sexes, despite the
different complement of sex chromosomes
• Produce the same amount of protein
what is the lyon hypothesis
female mammals inactivate one of their X chromosomes in each somatic cell