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82 Cards in this Set

  • Front
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Building up to the Genome

Nucleotide (4) --> DNA -- Genes --> Chromosome --> Genome

Nucleotide (4) --> DNA -- Genes --> Chromosome --> Genome

What is a Gene?

Basic unit of inheritance that affects phenotype.


 


Nucleotide sequence that codes for an amino acid sequence.

Basic unit of inheritance that affects phenotype.



Nucleotide sequence that codes for an amino acid sequence.

What is an allele?

Alleles are the different "versions" of a gene.



e.g. Healthy hemoglobin vs sickle cell hemoglobin. Healthy = ATT; Sickle = ATG

How does genotype affect phenotype?

Genotype = nucleotide sequence.


The nucleotide sequence codes for an amino acid sequence.


Phenotype = proteins from amino acid sequence.

Sexual life cycle

Offspring acquire half genes from each parent.


Comes from sperm and egg gametes (haploid n).


Fertilized zygote results (diploid 2n).

Offspring acquire half genes from each parent.


Comes from sperm and egg gametes (haploid n).


Fertilized zygote results (diploid 2n).

What is ploidy number?

Number of copies of chromosomes.



Humans have 23 pairs. 2n=46 (somatic cells). n=23 (gametes).

What are gametes?

Gametes are haploid cells that combine to form a new diploid cell. (Sperm and egg).



Gametes are genetically different from another.

How are gametes produced?

Gametes are produced via meiosis and contain 1/2 the chromosomes as their mother cell and 1/4 the amount of DNA as the cell after S phase.

What's the difference between a haploid and diploid cell?

A diploid cell has 2 copies of chromosomes.


A haploid cell has only 1 copy of chromosomes.

A diploid cell has 2 copies of chromosomes.


A haploid cell has only 1 copy of chromosomes.

Difference between meiosis and mitosis

Meiosis produces gametes to keep ploidy number of offspring same as parents.



Mitosis used to produce somatic cells (skin, neurons, muscle, etc.)



Don't worry about mitosis for this class.

What is meiosis?

Meiosis is division that leads to a halving of chromosome number (two phases = 1/4 total) and ultimately to the production of gametes.


 


1 diploid parent cell to 4 haploid daughter cells.

Meiosis is division that leads to a halving of chromosome number (two phases = 1/4 total) and ultimately to the production of gametes.



1 diploid parent cell to 4 haploid daughter cells.

Why meiosis?

Increase genetic diversity through crossover and recombination.

What are the phases of meiosis?

Interphase



Prophase 1, Metaphase 1, Anaphase 1, Telophase 1 & Cytokinesis.



Prophase 2, Metaphase 2, Anaphase 2, Telophase 2 & Cytokinesis



Done. Gametes formed.

What is interphase?

During interphase, chromosomes are duplicated. Each chromosome now consists of two identical copies called sister chromatids.

What is prophase?

Spindle forms and duplicated centrosomes start to migrate to opposite ends of the cells.



Homologous chromosomes stick together in pairs and do crossover and recombination.



Nuclear envelopes disappears and microtubules from centrosomes stick to chromosomes.

What is metaphase?

Chromosome pairs are positioned in middle of cell.

What is anaphase?

Homologous chromosomes separate from each other and move to opposite ends of cell.



Each chromosome still consists of two sister chromatids.

What is telophase & cytokinesis?

Now 2 daughter cells, with only 23 chromosomes, separate and move from each other.

What is Meiosis II?

Basically, the whole meiosis I process happens again. Except the result is 4 haploid cells with a single set of chromosomes. These form gametes.

What are the changes in ploidy and DNA content during meiosis?

DNA content is halved in both meiosis I and meiosis II. Ploidy level changes from diploid to haploid in meiosis I, and remains haploid in meiosis II.

What contributes to both genetic variation and heredity? (5)

1. Mutations occurring during replication


2. Recombinant chromosomes from crossing over


3. Independent assortment in meiosis I


4. Separation of sister chromatids in meiosis II


5. Random fusion of gametes during fertilization

The independent assortment of homologous chromosomes (which are never identical) in meiosis I produces daughter cells that are ___.

different

What is independent assortment?

The alleles for a trait separate when gametes are formed. These allele pairs are then randomly united at fertilization. (Formulated by Mendel.)

Black fur in mice (B) is dominant to brown fur (b). Short tails (T) are dominant to long tails (t). What fraction of the progeny of crosses BbTt x BBtt will be expected to have black fur and long tails? (Assume the two genes are located on different chromosomes.)

Black fur (BB or Bb) and long tails (tt) will occur in 1/2 (one-half) of the progeny with one-fourth being BBtt and the other one-fourth being Bbtt.



The genotypic outcome of this cross is one-fourth BBTt, one-fourth BBtt, one-fourth BbTt, and one-fourth Bbtt.

What are linked genes?

If genes are linked, it means that they are on the same chromosome. Linkage is the tendency of particular alleles of different genes to be inherited together.These genes may violate the principle of independent assortment. Linked genes are inherited together unless crossing over occurs between them. When crossing over takes place, genetic recombination occurs.

How many different combinations of independent assortment are possible?

2^n or 2^number of chromosomes



Humans = 2^23 = Billions of possibilities

Where does genetic variation primarily come from? (3)

1. Independent assortment


2. Crossover


3. Random fertilization. (Random egg & sperm)

What is crossover?

During prophase I, homologous chromosomes (1 from mom, 1 from dad) wrap around each other and exchange genetic information.

What is independent (random) assortment?

Alleles on different chromosomes will assort independently of each other during meiosis.



Because, during metaphase, the chromosomes (mom or dad) can line up in any random order before they are pulled apart.

What is random fertilization?

A random egg and a random sperm form the zygote.

A random egg and a random sperm form the zygote.

What is an X linked trait?

An X linked trait is a trait that can only be passed on the X chromosome. Because females have XX, an X linked recessive can be masked by the extra X. However, males (XY), will express this X linked recessive trait.

What is a sex linked trait?

A trait carried on the sex chromosomes; either X or Y. Y-linked traits are less common (non-existent in humans) because Y chromosomes are smaller.

What is polymorphism?

poly = many; morph = type



When two or more phenotypes exist in the same species population.



Example in humans: Sex, blood type, etc.

Why was Mendel lucky?

He had pea plants with simple genetic traits. (i.e. only two phenotypes, discrete traits, genes were on different chromosomes)



So, no incomplete dominance, or sex linked traits, etc.

Incomplete dominance

Alleles create intermediate phenotype.



Red + white = pink.



Codominance

Heterozygotes display phenotypes for both alleles.



MM x NN = MN

The ABO blood type of humans is an example of...

multiallelic, polymorphic, and complete dominance or codominance

In humans, the _#_ blood types are made up of _#_ alleles.

4 blood types: A, B, AB, O


3 alleles: i, IA, IB

Pleiotropy

When a single gene affects more than one trait


Epistasis

Epistasis is the gene interaction in which a gene (the epistatic gene) can disallow the phenotypical manifestation of another gene.



e.g. Labrador coat color.

Micro Evolution

Change of allele frequency in a population from one generation to the next

Macro Evolution

"Descent with modification"

(Scientific) Fact

An observation that has been repeatedly confirmed.

Law

A descriptive generalization about how some aspect of the natural world behaves under stated circumstances.

Hypothesis

A testable statement about the natural world that is falsifiable and can be used to build more complex inferences and explanations

(Science) Theory

A well-substantiated explanation of some aspect of the natural world that can incorporate facts, laws, inferences, and tested hypotheses.



Impossible to prove theory as true.


Is parsimonious = simple.

The knowledge hierarchy. Science vs Public.

Science: 1) Theories 2) Laws 3) Hypotheses 4) Facts



Public: 1) Facts 2) Laws 3) Theories 4) Hypotheses

Is evolution fact or theory?

Evolution has both observable facts and testable hypotheses... thus making it a theory.

Components of good experiment

1) Control group - to check for other factors that might be influencing results



2) Experimental conditions are controlled to eliminate extraneous variables



3) Tests are repeated to reduce effects of random variation

Non-Disjunction

Error in meiosis.


During 1st phase homologous chromosomes don't separate... trisomy or monosomy.



During 2nd phase sister chromatids don't separate. Less common but happens.

Sex are cost/benefits long term or immediate?

Benefits are long term.


Costs are immediate.

Immediate costs of sexual reproduction

1) Recombination-disrupts coevolved genes


2) Meiosis and syngamy-takes longer than mitosis.


3) Ecological costs (predation + diseases)


4) Mate searching


5) Cost of meiosis-asexual females pass on full genetic material. Sexual female loses half.

3 Genetic hypotheses:

Fisher-Muller Hypothesis


Muller's ratchet


Mutation load

Genetic hypothesis to explain sex

Fisher-Muller hypothesis.


Sexual species can adapt faster to changing environment. More robust genotype because recombination combines beneficial mutations and adapts faster to selective pressures.



But... most mutations are deleterious.

Least Loaded Class

Group of individuals with fewest number of deleterious mutations = best.



In sexual, if LLC dies, then it's okay. LLC can be regenerated through recombination.

Muller's ratchet

With every turn (mutation) of ratchet you can't go back. So they keep accumulating.



Bad for asexual creatures.



Salmonella example.

2 Ecological hypotheses to explain sex:

Tangled bank hypothesis


Red Queen Hypothesis

Tangled Bank Hypothesis

Lottery ticket. Have a ton of small offspring to increase genetic diversity and therefore survival chances.



Currently being rejected bc most sexual produce few, large offspring,

Red Queen Hypothesis

Species "chase each other". At heart concept of co-evolution.



e.g. Rabbit and wolf. Rabbit adapts runs faster to run away. Wolf adapts to run faster too.

Principle of segregation

i. Genes are located on chromosomes.


ii. Separation of homologous chromosomes during meiosis I explains why alleles of the same gene segregate to different gametes.

2 hypotheses to explain inheritance:

1) Blending hypothesis


2) Particulate inheritance

Blending hypothesis

Offsprings phenotype is a blend of their parents. So red + white = orange.



But... rejected. This would lead to homogenous species. Doesn't happen.

Particulate inheritance

Parents pass on discrete heritable "units" that retain their separate identities in offspring.



Discovered by Mendel.



"Discrete units" now known as genes.

Mendelian Dihybrid cross results in what ratio of phenotypes?

9:3:3:1

Polygentic traits

Many genes are involved in phenotype in an additive fashion.



e.g. Human skin color, Human height, Kernel color, etc.

Cuvier

Classification of animals in 4 branches.



Catastrophism: each boundary between strata represents a catastrophe.



Animals are similar bc performing similar function not common ancestry.

Lyell

Father of geology and huge influence on Darwin.



Earth is ancient.



Uniformitarianism/gradualism: Changes in Earth's surface result from slow continuous actions still operating today. Slow but cumulative effects.

Hutton

With Lyell on the whole uniformitarianism/gradualism.

Linnaeus

Father of taxonomy.



Believed species dispersed when Ark crashed in Turkey.

Lamarck

Traits gained during lifetime are passed onto offspring.

Wallace

Co-Founder of natural selection.

Evidence of evolution: Change through time (3)

1) Extinction (fossils)


2) Transitional Forms


3) Environmental Change

Evidence of evolution: Evidence that species are related (3)

1) Structural homologies


2) Developmental homologies


3) Genetic homologies

Darwin's 4 postulates

1) Individuals in populations within species vary


2) Some of these variations are heritable


3) More offspring are produced than can survive


4) Survival and reproduction are nonrandom

How many alleles per gene does a normal sperm or egg cell have?

Only 1 allele.


You can see 2 alleles at the same time only in diploid cells.

What is, basically, a pedigree chart?

A family tree

Pedigree chart: Which shape is female? male?

male = square


female = circle

Pedigree chart: What color is an affected person? What color is a carrier?

affected person = colored in shape


carrier = half colored in shape

Homologous chromosomes separate during Meiosis 1 or 2?

1

Sister chromatids separate during meiosis 1 or 2?

2

What is "descent with modification"?

What Darwin described evolution as.

What did Darwin say about evolution and natural selection?

Evolution is a process.


Natural selection is a mechanism.