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199 Cards in this Set

  • Front
  • Back
Blending Model of Inheritance
All traits of parents are blended in their offspring.
What are the two problems with Blending Inheritance Model?
- All individuals in a population will eventually look alike.
- Same traits skip a generation and appear in the next, unblended.
Gregor Mendel
- Austrian Monk
- Father of modern genetics
Particulate Model of Inheritance
Parents pass distinct particles (alleles) to their offspring that do not blend with other articles.
Diploid
Two copies of every chromosome/gene.
Homologous Chromosomes
A pair of the same chromosomes, one copy from each parent.
Haploid
One copy of every chromosome. Half the number you need.
Gametes
Name for haploid eggs and sperm.
Why are gametes haploid?
If they were not, chromosome number would double each generation.
Gene
Piece of DNA that codes for a protein.
Alleles
Different forms of the same gene.
Phenotype
Physical description of an organism's traits.
Genotype
Describe which alleles are present.
Homozygous
Two copies of the same allele (LL or ll). Can be dominant or recessive.
Heterozygous
Two different alleles (Aa or Bb).
Dominant
One allele hides the appearance (phenotype) of another.
Recessive
Name for the hidden allele.
With Dominance, genotypes can be...
- L is dominant to l
- LL = Homozygous dominant
- Ll = Heterozygous
- ll = Homozygous recessive
Incomplete dominance
Phenotype of heterozygote is intermediate between phenotype of two homozygous genotypes (ex. Red and white make pink flowers).
Co-dominance
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).
Multiple alleles
Two or more alleles for a gene. (Ex: the ABO blood group).
Epistatsis
One gene affects the phenotypic expression of another gene. Ex: mouse fur color. Influences fur color in other mammals too, like Labrador Retrievers.
Pleiotropy
one gene with multiple effects on the phenotype. Cystic Fibrosis because the mutated gene affects the airways, pancreas, sweat glands, and reproductive ducts, etc.
Polygonic test
one phenotypic trait is controlled by many genes.
How can you tell if a trait is polygenic?
The phenotypes of a polygenic trait form a normal distribution (bell-shaped curve)
Mendel’s Two Laws of Inheritance:
- Principle of Segregation of alleles
- Principle of independent assortment
Principle of Segregation of alleles
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.
Principle of independent assortment
alleles of one gene assort independently of the alleles at another gene.
Sex-specific inheritance patterns
23 pairs of chromosomes
Autosomes
Chromosomes not involved in sex determination (22 pairs)
Sex chromosomes
chromosomes that are involved in sex determination (1 pair)
Sex linked traits
genes found on sex chromosomes and show sex-specific patterns of inheritance
Why are sex-linked traits important?
Because the phenotypes will be seen more often in males than in females. Females can be carriers
Dosage compensation
genetic mechanisms that equalize the expression of X-linked genes in males and females
Why?
Because females are XX, males are XY
X-chromosome Inactivation
one female X chromosomes shuts off, leaving one working copy, like males. Happens in all placental mammals.
How does a Female Calico Cat get her patterned fur color?
- Fur color is X-linked
- Black allele, orange allele
- Different cell lineages shut off different X chromosomes
Phenotypic plasticity
the ability of an organism with a given genotype to change its phenotype in response to changes in the environment.
Examples in Humans
- Musculature
- Skin tone
- Weight
DNA Structure
- 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
What are the three main parts of the Nucleotide Chain?
- Phosphate group
- Deoxyribose sugar
- Four different bases A, G, C, or T (A = T, G = C)
DNA
- Deoxyribose sugar
- A, G, C, or T (A = T, G = C)
- Double stranded
RNA
- Ribose sugar
- A, G, C, or U (A = U, G = C)
- Single-stranded
What type of molecular bond holds the two nucleotide chains of DNA together?
Hydrogen bonds hold the two nucleotide chains together: A <-- 2 H bonds --> T, G <-- 3 H bonds --> C
DNA Replication
DNA packed tightly into visible chromosomes only during cell division
a.) strand separation
DNA strands are unzipped by enzyme helicase
b.) Complementary base pairing
A, G, C, T bases find their complements
c.) Polymerization
enzyme DNA polymerase attacks new bases and re-zips new strands
Semi-conservative replication
each new DNA molecule consists of one new strand and one old strand
What is needed to start adding new bases to the nucleotide chain?
RNA Primer: short piece of RNA that allows DNA polymerase to work. Later removed by an RNAse enzyme.
Mutations
- 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
What are the five most common type of DNA mutations?
- Point mutations: TTAGT --> ATAGT
- Deletions: TTAGT --> AGT
- Insertions: TTAGT --> TTGGAGT
- Duplications: TTAGT --> TTAGTTTAGT
- Inversions: TTAGT --> TGATT
What are restriction enzymes?
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).
Why do some bacteria make restriction enzymes anyway?
They use these enzymes to destroy viral DNA that invades them
What is the Central Dogma?
That the flow of genetic information is from DNA to RNA to protein
a.) strand separation
DNA strands are unzipped by enzyme helicase
b.) Complementary base pairing
A, G, C, T bases find their complements
c.) Polymerization
enzyme DNA polymerase attacks new bases and re-zips new strands
Semi-conservative replication
each new DNA molecule consists of one new strand and one old strand
What is needed to start adding new bases to the nucleotide chain?
RNA Primer: short piece of RNA that allows DNA polymerase to work. Later removed by an RNAse enzyme.
Mutations
- 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
What are the five most common type of DNA mutations?
- Point mutations: TTAGT --> ATAGT
- Deletions: TTAGT --> AGT
- Insertions: TTAGT --> TTGGAGT
- Duplications: TTAGT --> TTAGTTTAGT
- Inversions: TTAGT --> TGATT
What are restriction enzymes?
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).
Why do some bacteria make restriction enzymes anyway?
They use these enzymes to destroy viral DNA that invades them
What is the Central Dogma?
That the flow of genetic information is from DNA to RNA to protein
- DNA (transcription) --> RNA (translation) --> protein
DNA is transcribed into what?
An mRNA molecule (messenger RNA)
Where does Transcription occur?
In the nucleus
Does Transcription occur on both strands of the DNA molecule?
Transcription occurs on only one strand at a time, but there can be genes on both strands
What enzyme makes the messenger RNA (mRNA) molecule?
RNA polymerase joins the RNA nucleotides together
Where in the cell does Translation occur?
Outside the nucleus in the Cytoplasm
What is the actual site of Translation?
On the ribosome
What is a Codon?
triplet of mRNA bases (messenger RNA)
What does transfer RNA (tRNA) do?
Carries amino acids to ribosome to assemble amino acid chain
What is an Anticodon?
tRNA complement to the mRNA codon
What is a protein?
Chain of amino acids
Why do many DNA mutations have no affect on the phenotype?
Because the third codon position can be any nucleotide
What is a gene?
Piece of DNA that codes for protein with a start and stop codon
What does gene expression mean?
gene is transcribed and then translated into a protein. Gene goes through transcription and translation
Does Transcription require a primer?
No, it uses regulatory proteins
How are genes Regulated?
DNA replication requires primer
What are the two main types of Eukaryotic cell division and what are their functions?
- Mitosis: to produce more diploid body cells (IPMAT)
- Meiosis: to produce haploid gametes
Interphase
- Cell growth
- DNA replication
What are Sister Chromatids?
Chromosome and it’s identical copy
What is a Centromere?
Protein that holds the sister chromatids together
Prophase:
What is a Centriole?
Cell organelle that organizes microtubules
Prophase:
Microtubules
protein filament that moves things inside the cell
Metaphase:
What is the metaphase plate?
only time you can see chromosomes

A: Imaginary line in center of cell where chromosomes line up
Metaphase:
What are Karyotypes?
Visual pictures of condensed chromosomes
Anaphase:
Kinetochore microtubules attach Centriole to Centromere and _____ chromosomes apart
pull
Anaphase:
What separates during Anaphase of Mitosis?
Sister chromatids
Telophase:
Polar microtubules attach Centriole to Centriole and _____ the cell apart
push
Telophase:
Cytokinesis
division of the cell’s cytoplasm
Telophase:
How do animal cells divide?
Form contractile ring to cut cell in half
Telophase:
What is the contractile ring made from?
Exact same kind of proteins we have in our muscle: actin
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
Telophase:
What are the final products of Mitosis?
Genetically identical diploid daughter cells
Meiosis (IPMAT):
Two parts, Meiosis I and Meiosis II
What happens during Meiosis I?
cell division and DNA replication
What happens during Meiosis II?
Another cell division without DNA replication
Is there DNA replication during Meiosis II?
No
What separates during Meiosis II?
Sister chromatids
How many daughter cells are produced at the end of Meiosis II?
4
4. Are those cells haploid or diploid?
Haploid
In human males, how many of the four cells become sperm cells?
All of them (4)
In human females, how many of the four cells become egg cells?
One
Why is recombination important?
Generates a lot of genetic variation
When does Recombination occur?
Prophase of Meiosis I
Translocation
piece of chromosome breaks off but attaches to the wrong chromosome
What does radiation do to chromosomes?
Breaks chromosomes
What is Aneuploidy?
Too many or too few chromosomes
Down Syndrome
caused by setting extra copy of chromosome 21
Klinefelter’s Syndrome
an XXY (male, XY, inherit extra X) mess up sperm production
Trisomy X
XXX (in females) extra X but doesn’t affect it, shuts it off
Turner’s Syndrome
XO, one copy of the X
XYY Males
inherit double dose of 4 (like XXX female). Tend to be a little tall but no other phenotypical traits.
Apoptosis
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.
Normal Control of Cell Division
- 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
Some Genes / Proteins involved in the control of cell division:
- Cyclins: proteins that build up and when they reach a certain threshold, start mitosis
- MPF (Mitosis-promoting factor): Protein that initiates Mitosis in Eukaryotes
Proto-Oncogene
genes involved in starting mitosis
Oncogene
mutated proto-oncogenes that cannot control cell division cancer genes.
Tumor Suppressor Genes
make proteins that stop cell division and kill cells
Oncology
study of cancer cells
BRCA1 and BRCA2
breast cancer genes. Some alleles increase risk in males and females. Also increases risk of prostate and testicular cancers in males.
How do cells lose control of cell division?
Mutations in the genes that control cell division (mutagens/carcinogens)
Tumor (Neoplasm)
abnormal growth of tissue. Does not have to be cancerous.
Benign Tumor
harmless tumors that do not spread to other tissues. Examples: warts, moles
Uterine fibroids
non-cancerous tumors of uterus. Most common benign tumor in women.
Cyst
a closed sac with a membrane around it (fluid or air filled)
Abscess
a collection of pus (dead white blood cells)
Cancer (Malignant Tumor)
aggressive tumors that divide rapidly and spread to other cells and tissues.
Three characteristics of Cancers
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.
What percent of Americans will develop some form of cancer during their lifetime?
About 40%
Lymphoma
a type of cancer that originates in lymphocytes (usually in lymph nodes)
Leukemia
cancer of the blood cells (usually white blood cells) or bone marrow
Benign Tumor
harmless tumors that do not spread to other tissues. Examples: warts, moles
Uterine fibroids
non-cancerous tumors of uterus. Most common benign tumor in women.
Cyst
a closed sac with a membrane around it (fluid or air filled)
Abscess
a collection of pus (dead white blood cells)
Cancer (Malignant Tumor)
aggressive tumors that divide rapidly and spread to other cells and tissues.
Three characteristics of Cancers
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.
What percent of Americans will develop some form of cancer during their lifetime?
About 40%
Lymphoma
a type of cancer that originates in lymphocytes (usually in lymph nodes)
Leukemia
cancer of the blood cells (usually white blood cells) or bone marrow
Skin cancer
basal cell carcinoma: slow growing and most common type of skin cancer
Benign Tumor
harmless tumors that do not spread to other tissues. Examples: warts, moles
Uterine fibroids
non-cancerous tumors of uterus. Most common benign tumor in women.
Cyst
a closed sac with a membrane around it (fluid or air filled)
Abscess
a collection of pus (dead white blood cells)
Cancer (Malignant Tumor)
aggressive tumors that divide rapidly and spread to other cells and tissues.
Three characteristics of Cancers
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.
What percent of Americans will develop some form of cancer during their lifetime?
About 40%
Lymphoma
a type of cancer that originates in lymphocytes (usually in lymph nodes)
Leukemia
cancer of the blood cells (usually white blood cells) or bone marrow
Skin cancer: basal cell carcinoma
slow growing and most common type of skin cancer
Skin cancer: Malignant melanoma
an aggressive cancer of melanocytes (skin pigment cells)
Lung Cancer
very common cancer among men and women. Leading cause is cigarette smoke. About 20% of lung cancer cases are related to 2nd-hand smoke
Prostate cancer
men only. Nearly all men will develop this if they live long enough. Average age = 70, after 45, regular checkups a good idea
Breast cancer
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.
Non cancerous breast lumps:
- 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).
Can men get breast cancer?
Yes, but 100 times less common in men
Some factors that might increase the risk of Breast cancer:
- Genetics (family history)
- Cigarette smoke (second hand too)
- Alcohol abuse
- Obesity
- Abnormal circadian rhythm
Some factors that might reduce the risk of Breast cancer:
- 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
Cancer treatments:
- 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.
Asexual Reproduction
Reproduction without sex, DNA comes from one individual
Binary fission
cell splits into two identical cells, Clones. Bacteria and some protists
Budding
genetically identical individual grow off other individuals
Fragmentation
pieces break off and grow into new individuals. Also called vegetative reproductive
Parthenogenesis
production of offspring from unfertilized eggs
Advantages of Asexual reproduction
don’t have to spend time looking for mates
Disadvantages of asexual reproduction
very little, if any, genetic variation among offspring
Sexual Reproduction
Meiosis and sex. DNA comes from two different individuals
Disadvantages of sexual reproduction
have to find and sometimes compete for mates
Advantages of Sexual reproduction: combines
independent assortment, segregation of alleles, recombination, and mutation, to create a lot of genetic variation
Simultaneous Hermaphrodite
has working male and female reproductive organs. Do not usually self-fertilize.
Why not self-fertilize?
Genetic variation
Sequential Hermaphrodite
individual born as one sex, but changes to the other
Protandry
born male, change to a female
Protogyny
born female, change to a male
Genetic Gender Determination
chromosomes determine gender of offspring
Mosaic
one egg, but a mitosis error early in development creates different populations of cells expressing different genotypes
Bilateral Gynandromorph
half the body is genetically male, half is genetically female
Non-disjunction
chromosomes do not segregate equally
Chimera
When different cells in the body have different genotypes. Cells derived from two different eggs that fuses
SRY Gene
negative regulatory protein. Y-linked gene that blocks gene expression on X chromosome.
Androgen Insensitivity Syndrome
mutation in Androgen receptor prevents receiving of male hormones. Genetic male (XY), phenotypic male.
Environmental Gender Determination
the environment determines the sex of offspring
Temperature
crocodiles, some turtles, some fish. Males and females develop at different nest temperatures (males 89.1 F and females 94.1 F)
Environmental Toxins
PCBs and other pesticides can ‘feminize’ male turtles and gulls
Social Environment
some fish and frogs can change sex if males or females are rare
Fertilization
Fusion of egg and sperm
External fertilization
occurs outside female’s body. Usually in wet environments
Broadcast spawning
release millions of gametes into the water and hope they find each other
Internal fertilization
occurs inside female’s body
Internal Fertilization process:
- 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
Fraternal Twins
two or more different eggs are fertilized at the same time
Identical Twins
one fertilized egg splits into two genetically identical eggs
Multiple births
can be fraternal, individual, or a combination
Humans typically have one baby at a time. Why do some animals have multiple offspring at a time?
To ensure they produce enough offspring in a variable environment
Three ways to handle a fertilized egg:
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)