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199 Cards in this Set
- Front
- Back
Blending Model of Inheritance
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All traits of parents are blended in their offspring.
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What are the two problems with Blending Inheritance Model?
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- All individuals in a population will eventually look alike.
- Same traits skip a generation and appear in the next, unblended. |
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Gregor Mendel
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- Austrian Monk
- Father of modern genetics |
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Particulate Model of Inheritance
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Parents pass distinct particles (alleles) to their offspring that do not blend with other articles.
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Diploid
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Two copies of every chromosome/gene.
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Homologous Chromosomes
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A pair of the same chromosomes, one copy from each parent.
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Haploid
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One copy of every chromosome. Half the number you need.
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Gametes
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Name for haploid eggs and sperm.
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Why are gametes haploid?
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If they were not, chromosome number would double each generation.
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Gene
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Piece of DNA that codes for a protein.
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Alleles
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Different forms of the same gene.
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Phenotype
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Physical description of an organism's traits.
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Genotype
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Describe which alleles are present.
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Homozygous
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Two copies of the same allele (LL or ll). Can be dominant or recessive.
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Heterozygous
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Two different alleles (Aa or Bb).
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Dominant
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One allele hides the appearance (phenotype) of another.
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Recessive
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Name for the hidden allele.
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With Dominance, genotypes can be...
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- L is dominant to l
- LL = Homozygous dominant - Ll = Heterozygous - ll = Homozygous recessive |
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Incomplete dominance
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Phenotype of heterozygote is intermediate between phenotype of two homozygous genotypes (ex. Red and white make pink flowers).
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Co-dominance
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Phenotype of heterozygote simultaneously shows both phenotypes (Ex. You can have AA and be A blood type, you can have BB and be B blood type or you can have AB genotype and be AB blood type which is both fully A and B, not intermediate between AA and BB).
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Multiple alleles
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Two or more alleles for a gene. (Ex: the ABO blood group).
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Epistatsis
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One gene affects the phenotypic expression of another gene. Ex: mouse fur color. Influences fur color in other mammals too, like Labrador Retrievers.
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Pleiotropy
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one gene with multiple effects on the phenotype. Cystic Fibrosis because the mutated gene affects the airways, pancreas, sweat glands, and reproductive ducts, etc.
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Polygonic test
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one phenotypic trait is controlled by many genes.
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How can you tell if a trait is polygenic?
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The phenotypes of a polygenic trait form a normal distribution (bell-shaped curve)
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Mendel’s Two Laws of Inheritance:
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- Principle of Segregation of alleles
- Principle of independent assortment |
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Principle of Segregation of alleles
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sexually reproducing, diploid individuals have two copies (alleles) for each gene and these alleles separate from each other such that each egg or sperm gets only one allele.
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Principle of independent assortment
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alleles of one gene assort independently of the alleles at another gene.
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Sex-specific inheritance patterns
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23 pairs of chromosomes
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Autosomes
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Chromosomes not involved in sex determination (22 pairs)
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Sex chromosomes
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chromosomes that are involved in sex determination (1 pair)
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Sex linked traits
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genes found on sex chromosomes and show sex-specific patterns of inheritance
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Why are sex-linked traits important?
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Because the phenotypes will be seen more often in males than in females. Females can be carriers
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Dosage compensation
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genetic mechanisms that equalize the expression of X-linked genes in males and females
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Why?
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Because females are XX, males are XY
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X-chromosome Inactivation
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one female X chromosomes shuts off, leaving one working copy, like males. Happens in all placental mammals.
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How does a Female Calico Cat get her patterned fur color?
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- Fur color is X-linked
- Black allele, orange allele - Different cell lineages shut off different X chromosomes |
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Phenotypic plasticity
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the ability of an organism with a given genotype to change its phenotype in response to changes in the environment.
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Examples in Humans
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- Musculature
- Skin tone - Weight |
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DNA Structure
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- DNA is a linear molecule (chain-like)
- DNA consists of 4 types of nucleotides (A, G, C, T) - In any molecule of DNA, A = T and G = C - DNA is made of 2 strands - DNA has a net negative charge |
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What are the three main parts of the Nucleotide Chain?
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- Phosphate group
- Deoxyribose sugar - Four different bases A, G, C, or T (A = T, G = C) |
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DNA
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- Deoxyribose sugar
- A, G, C, or T (A = T, G = C) - Double stranded |
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RNA
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- Ribose sugar
- A, G, C, or U (A = U, G = C) - Single-stranded |
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What type of molecular bond holds the two nucleotide chains of DNA together?
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Hydrogen bonds hold the two nucleotide chains together: A <-- 2 H bonds --> T, G <-- 3 H bonds --> C
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DNA Replication
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DNA packed tightly into visible chromosomes only during cell division
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a.) strand separation
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DNA strands are unzipped by enzyme helicase
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b.) Complementary base pairing
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A, G, C, T bases find their complements
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c.) Polymerization
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enzyme DNA polymerase attacks new bases and re-zips new strands
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Semi-conservative replication
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each new DNA molecule consists of one new strand and one old strand
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What is needed to start adding new bases to the nucleotide chain?
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RNA Primer: short piece of RNA that allows DNA polymerase to work. Later removed by an RNAse enzyme.
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Mutations
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- Are rare because DNA polymerase can correct mistakes
- Only one in a billion nucleotides mutates - Most mutations are bad or have very little or no effect - Beneficial mutations are rare |
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What are the five most common type of DNA mutations?
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- Point mutations: TTAGT --> ATAGT
- Deletions: TTAGT --> AGT - Insertions: TTAGT --> TTGGAGT - Duplications: TTAGT --> TTAGTTTAGT - Inversions: TTAGT --> TGATT |
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What are restriction enzymes?
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Enzymes derived from bacteria that cut DNA at specific sequences where the sequence is the same (palindrome) on both strands of DNA (Example: GG CC, CC GG).
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Why do some bacteria make restriction enzymes anyway?
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They use these enzymes to destroy viral DNA that invades them
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What is the Central Dogma?
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That the flow of genetic information is from DNA to RNA to protein
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a.) strand separation
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DNA strands are unzipped by enzyme helicase
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b.) Complementary base pairing
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A, G, C, T bases find their complements
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c.) Polymerization
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enzyme DNA polymerase attacks new bases and re-zips new strands
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Semi-conservative replication
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each new DNA molecule consists of one new strand and one old strand
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What is needed to start adding new bases to the nucleotide chain?
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RNA Primer: short piece of RNA that allows DNA polymerase to work. Later removed by an RNAse enzyme.
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Mutations
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- Are rare because DNA polymerase can correct mistakes
- Only one in a billion nucleotides mutates - Most mutations are bad or have very little or no effect - Beneficial mutations are rare |
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What are the five most common type of DNA mutations?
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- Point mutations: TTAGT --> ATAGT
- Deletions: TTAGT --> AGT - Insertions: TTAGT --> TTGGAGT - Duplications: TTAGT --> TTAGTTTAGT - Inversions: TTAGT --> TGATT |
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What are restriction enzymes?
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Enzymes derived from bacteria that cut DNA at specific sequences where the sequence is the same (palindrome) on both strands of DNA (Example: GG CC, CC GG).
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Why do some bacteria make restriction enzymes anyway?
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They use these enzymes to destroy viral DNA that invades them
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What is the Central Dogma?
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That the flow of genetic information is from DNA to RNA to protein
- DNA (transcription) --> RNA (translation) --> protein |
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DNA is transcribed into what?
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An mRNA molecule (messenger RNA)
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Where does Transcription occur?
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In the nucleus
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Does Transcription occur on both strands of the DNA molecule?
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Transcription occurs on only one strand at a time, but there can be genes on both strands
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What enzyme makes the messenger RNA (mRNA) molecule?
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RNA polymerase joins the RNA nucleotides together
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Where in the cell does Translation occur?
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Outside the nucleus in the Cytoplasm
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What is the actual site of Translation?
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On the ribosome
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What is a Codon?
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triplet of mRNA bases (messenger RNA)
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What does transfer RNA (tRNA) do?
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Carries amino acids to ribosome to assemble amino acid chain
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What is an Anticodon?
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tRNA complement to the mRNA codon
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What is a protein?
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Chain of amino acids
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Why do many DNA mutations have no affect on the phenotype?
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Because the third codon position can be any nucleotide
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What is a gene?
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Piece of DNA that codes for protein with a start and stop codon
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What does gene expression mean?
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gene is transcribed and then translated into a protein. Gene goes through transcription and translation
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Does Transcription require a primer?
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No, it uses regulatory proteins
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How are genes Regulated?
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DNA replication requires primer
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What are the two main types of Eukaryotic cell division and what are their functions?
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- Mitosis: to produce more diploid body cells (IPMAT)
- Meiosis: to produce haploid gametes |
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Interphase
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- Cell growth
- DNA replication |
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What are Sister Chromatids?
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Chromosome and it’s identical copy
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What is a Centromere?
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Protein that holds the sister chromatids together
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Prophase:
What is a Centriole? |
Cell organelle that organizes microtubules
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Prophase:
Microtubules |
protein filament that moves things inside the cell
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Metaphase:
What is the metaphase plate? |
only time you can see chromosomes
A: Imaginary line in center of cell where chromosomes line up |
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Metaphase:
What are Karyotypes? |
Visual pictures of condensed chromosomes
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Anaphase:
Kinetochore microtubules attach Centriole to Centromere and _____ chromosomes apart |
pull
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Anaphase:
What separates during Anaphase of Mitosis? |
Sister chromatids
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Telophase:
Polar microtubules attach Centriole to Centriole and _____ the cell apart |
push
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Telophase:
Cytokinesis |
division of the cell’s cytoplasm
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Telophase:
How do animal cells divide? |
Form contractile ring to cut cell in half
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Telophase:
What is the contractile ring made from? |
Exact same kind of proteins we have in our muscle: actin
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Telophase:
What is different about Cytokinesis in plant cells? |
Plant’s divide from the inside out by depositing cell wall in the middle of cell
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Telophase:
What are the final products of Mitosis? |
Genetically identical diploid daughter cells
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Meiosis (IPMAT):
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Two parts, Meiosis I and Meiosis II
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What happens during Meiosis I?
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cell division and DNA replication
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What happens during Meiosis II?
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Another cell division without DNA replication
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Is there DNA replication during Meiosis II?
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No
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What separates during Meiosis II?
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Sister chromatids
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How many daughter cells are produced at the end of Meiosis II?
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4
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4. Are those cells haploid or diploid?
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Haploid
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In human males, how many of the four cells become sperm cells?
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All of them (4)
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In human females, how many of the four cells become egg cells?
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One
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Why is recombination important?
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Generates a lot of genetic variation
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When does Recombination occur?
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Prophase of Meiosis I
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Translocation
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piece of chromosome breaks off but attaches to the wrong chromosome
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What does radiation do to chromosomes?
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Breaks chromosomes
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What is Aneuploidy?
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Too many or too few chromosomes
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Down Syndrome
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caused by setting extra copy of chromosome 21
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Klinefelter’s Syndrome
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an XXY (male, XY, inherit extra X) mess up sperm production
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Trisomy X
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XXX (in females) extra X but doesn’t affect it, shuts it off
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Turner’s Syndrome
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XO, one copy of the X
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XYY Males
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inherit double dose of 4 (like XXX female). Tend to be a little tall but no other phenotypical traits.
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Apoptosis
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programmed cell death. Is what happens to normal cells that are damaged or not functioning properly. If the immune system doesn’t get them, many cells will kill themselves.
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Normal Control of Cell Division
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- One cell sends a signaling molecule to another cell
- Signaling molecule binds to receptor on target cell - Receptor sends cyclin proteins to nucleus - Cell divides by Mitosis |
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Some Genes / Proteins involved in the control of cell division:
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- Cyclins: proteins that build up and when they reach a certain threshold, start mitosis
- MPF (Mitosis-promoting factor): Protein that initiates Mitosis in Eukaryotes |
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Proto-Oncogene
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genes involved in starting mitosis
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Oncogene
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mutated proto-oncogenes that cannot control cell division cancer genes.
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Tumor Suppressor Genes
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make proteins that stop cell division and kill cells
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Oncology
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study of cancer cells
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BRCA1 and BRCA2
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breast cancer genes. Some alleles increase risk in males and females. Also increases risk of prostate and testicular cancers in males.
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How do cells lose control of cell division?
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Mutations in the genes that control cell division (mutagens/carcinogens)
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Tumor (Neoplasm)
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abnormal growth of tissue. Does not have to be cancerous.
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Benign Tumor
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harmless tumors that do not spread to other tissues. Examples: warts, moles
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Uterine fibroids
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non-cancerous tumors of uterus. Most common benign tumor in women.
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Cyst
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a closed sac with a membrane around it (fluid or air filled)
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Abscess
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a collection of pus (dead white blood cells)
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Cancer (Malignant Tumor)
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aggressive tumors that divide rapidly and spread to other cells and tissues.
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Three characteristics of Cancers
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1.) Cells divide and grow abnormally (mitosis is out of control)
2.) Rely on glycolysis for ATP, all energy devoted to cell division 3.) Metastasis: when cancer cells spread to other parts of the body. Rough cell surface. Cells don’t stick together well. Travel through interstitial fluid to other body parts and form new tumors. |
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What percent of Americans will develop some form of cancer during their lifetime?
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About 40%
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Lymphoma
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a type of cancer that originates in lymphocytes (usually in lymph nodes)
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Leukemia
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cancer of the blood cells (usually white blood cells) or bone marrow
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Benign Tumor
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harmless tumors that do not spread to other tissues. Examples: warts, moles
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Uterine fibroids
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non-cancerous tumors of uterus. Most common benign tumor in women.
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Cyst
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a closed sac with a membrane around it (fluid or air filled)
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Abscess
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a collection of pus (dead white blood cells)
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Cancer (Malignant Tumor)
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aggressive tumors that divide rapidly and spread to other cells and tissues.
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Three characteristics of Cancers
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1.) Cells divide and grow abnormally (mitosis is out of control)
2.) Rely on glycolysis for ATP, all energy devoted to cell division 3.) Metastasis: when cancer cells spread to other parts of the body. Rough cell surface. Cells don’t stick together well. Travel through interstitial fluid to other body parts and form new tumors. |
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What percent of Americans will develop some form of cancer during their lifetime?
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About 40%
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Lymphoma
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a type of cancer that originates in lymphocytes (usually in lymph nodes)
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Leukemia
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cancer of the blood cells (usually white blood cells) or bone marrow
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Skin cancer
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basal cell carcinoma: slow growing and most common type of skin cancer
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Benign Tumor
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harmless tumors that do not spread to other tissues. Examples: warts, moles
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Uterine fibroids
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non-cancerous tumors of uterus. Most common benign tumor in women.
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Cyst
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a closed sac with a membrane around it (fluid or air filled)
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Abscess
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a collection of pus (dead white blood cells)
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Cancer (Malignant Tumor)
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aggressive tumors that divide rapidly and spread to other cells and tissues.
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Three characteristics of Cancers
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1.) Cells divide and grow abnormally (mitosis is out of control)
2.) Rely on glycolysis for ATP, all energy devoted to cell division 3.) Metastasis: when cancer cells spread to other parts of the body. Rough cell surface. Cells don’t stick together well. Travel through interstitial fluid to other body parts and form new tumors. |
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What percent of Americans will develop some form of cancer during their lifetime?
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About 40%
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Lymphoma
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a type of cancer that originates in lymphocytes (usually in lymph nodes)
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Leukemia
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cancer of the blood cells (usually white blood cells) or bone marrow
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Skin cancer: basal cell carcinoma
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slow growing and most common type of skin cancer
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Skin cancer: Malignant melanoma
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an aggressive cancer of melanocytes (skin pigment cells)
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Lung Cancer
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very common cancer among men and women. Leading cause is cigarette smoke. About 20% of lung cancer cases are related to 2nd-hand smoke
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Prostate cancer
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men only. Nearly all men will develop this if they live long enough. Average age = 70, after 45, regular checkups a good idea
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Breast cancer
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most common cancer among women. US women have highest rate in the world (12.5% risk of developing). Small, hard, bumpy-surfaced lump, often no pain associated with early stages.
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Non cancerous breast lumps:
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- Cysts: squishy (can move and change in size during the menstrual cycle)
- Fibroadenomas: round with smooth surface (hard or soft) - Pseudolumps: many causes, symptoms: get checked to be sure. (e.g., dead fat tissue or rib pushing on breast tissue). |
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Can men get breast cancer?
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Yes, but 100 times less common in men
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Some factors that might increase the risk of Breast cancer:
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- Genetics (family history)
- Cigarette smoke (second hand too) - Alcohol abuse - Obesity - Abnormal circadian rhythm |
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Some factors that might reduce the risk of Breast cancer:
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- Lower age at first child birth (less than 24 years old)
- Having more children (7% lower risk per child) - Breast feeding (4% lower risk per breastfeeding year) - Mastectomy, Oophorectomy, or Hysterectomy: a.) Mastectomy: removal of one or both breasts b.) Oophorectomy: removal of ovaries c.) Hysterectomy: removal of all or part of uterus |
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Cancer treatments:
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- Immune system: macrophages and Natural killer cells can recognize cancer cells and destroy them.
a.) Vaccination: use antigens that are specific to the cancer cells - Surgery: kills cancer cells, but kills healthy cells too. Ineffective if cancer has metastasized - Radiation: stops mitosis so good against cancer cells, but damages other cells too. Ineffective if metastasis has occurred. - Chemotherapy: relies on a wide range of drugs that find and destroy cancer cells or prevent the formation of supporting tissue (capillaries), which should help kill cancer cells. |
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Asexual Reproduction
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Reproduction without sex, DNA comes from one individual
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Binary fission
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cell splits into two identical cells, Clones. Bacteria and some protists
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Budding
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genetically identical individual grow off other individuals
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Fragmentation
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pieces break off and grow into new individuals. Also called vegetative reproductive
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Parthenogenesis
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production of offspring from unfertilized eggs
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Advantages of Asexual reproduction
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don’t have to spend time looking for mates
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Disadvantages of asexual reproduction
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very little, if any, genetic variation among offspring
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Sexual Reproduction
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Meiosis and sex. DNA comes from two different individuals
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Disadvantages of sexual reproduction
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have to find and sometimes compete for mates
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Advantages of Sexual reproduction: combines
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independent assortment, segregation of alleles, recombination, and mutation, to create a lot of genetic variation
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Simultaneous Hermaphrodite
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has working male and female reproductive organs. Do not usually self-fertilize.
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Why not self-fertilize?
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Genetic variation
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Sequential Hermaphrodite
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individual born as one sex, but changes to the other
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Protandry
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born male, change to a female
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Protogyny
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born female, change to a male
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Genetic Gender Determination
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chromosomes determine gender of offspring
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Mosaic
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one egg, but a mitosis error early in development creates different populations of cells expressing different genotypes
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Bilateral Gynandromorph
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half the body is genetically male, half is genetically female
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Non-disjunction
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chromosomes do not segregate equally
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Chimera
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When different cells in the body have different genotypes. Cells derived from two different eggs that fuses
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SRY Gene
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negative regulatory protein. Y-linked gene that blocks gene expression on X chromosome.
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Androgen Insensitivity Syndrome
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mutation in Androgen receptor prevents receiving of male hormones. Genetic male (XY), phenotypic male.
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Environmental Gender Determination
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the environment determines the sex of offspring
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Temperature
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crocodiles, some turtles, some fish. Males and females develop at different nest temperatures (males 89.1 F and females 94.1 F)
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Environmental Toxins
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PCBs and other pesticides can ‘feminize’ male turtles and gulls
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Social Environment
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some fish and frogs can change sex if males or females are rare
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Fertilization
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Fusion of egg and sperm
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External fertilization
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occurs outside female’s body. Usually in wet environments
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Broadcast spawning
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release millions of gametes into the water and hope they find each other
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Internal fertilization
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occurs inside female’s body
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Internal Fertilization process:
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- Sperm penetrates egg coat
a.) Acrosome: sac of enzymes that allow the sperm to digest its way to the egg cell membrane - Sperm and egg cell membranes fuse - Fertilization membrane: membrane that prevents a second sperm from entering egg - Sperm and egg nuclei fuse - Egg implants into lining of uterus |
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Fraternal Twins
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two or more different eggs are fertilized at the same time
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Identical Twins
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one fertilized egg splits into two genetically identical eggs
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Multiple births
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can be fraternal, individual, or a combination
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Humans typically have one baby at a time. Why do some animals have multiple offspring at a time?
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To ensure they produce enough offspring in a variable environment
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Three ways to handle a fertilized egg:
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1.) Ovipary: eggs lay outside the body
2.) Ovovivipary: eggs are kept inside body until hatching 3.) Vivipary: young develop inside female a.) Placental mammal: developing embryo is connected to female’s body by a placenta and an umbilical cord b.) Marsupial: young nourished outside female’s body inside a marsupium (pouch) |