Test 2 Flashcards
Nucleotides
-Molecules that make up DNA
- For DNA: Thymine, Adenine, Guanine, Cytosine
- Thymine and Adenine go together (double strand)
- Guanine and Cytosine go together (triple strand)
- For RNA: Uracil, Adenine, Guanine, Cytosine
- Adenine → Uracil go together
- Thymine → Adenine
- Guanine and Cytosine go together
-Held together by hydrogen bonds
DNA
- Deoxyribonucleic Acid
- Long polymer made up of a sequence of nucleotides
- Nucleotides are building blocks
- Sequence of nucleotides (bases) are “blue prints” for proteins
- Gene - specific segment of DNA that determines a specific protein
DNA vs. RNA
-RNA: Single strand Has U rather than T -DNA: Double Strand Has T
Protein
- Made up of amino acids (sequence)
- Associated with transport, speed up processes (enzymes), help with physical structure, and act as messenger
Gene
- Specific segment of DNA that determines a specific protein
- 20,000-25,000
- Occurs sequentially on DNA (thus on chromosomes)
- Each gene occurs as two homologous copies
Transcription
- DNA transcribes (codes) to RNA (ribonucleic acid)
- Enzyme aligns RNA nucleotides (A, C, G, U) with complementary bases on one strand of the DNA
- Stops when enzyme reaches a termination (“stop”) sequence
- Result: Messenger RNA (mRNA)
- Uses RNA polymerase and promoter
Translation
- 3-base code of RNA - RNA translates information from DNA into a sequence of amino acids using a 3-base
- Converting the coded information in RNA into a protein
Structure of DNA
- DNA molecule is tightly coiled with proteins, called histones (histones provide packaging and control, forming nucleosomes)
- Includes chromatin, chromosomes (look at their definitions)
- During DNA synthesis, chromatin is is replicated producing “sister chromatids”
- Genes are arranged in sequence (kinda sorta)
- Sister chromatids are joined by a centromere
- Watson and Crick
- Made up of nucleotides (which carry genetic information)
- A polymer, a molecule, made up of a phosphate group, nitrogen base, and sugar
- Double helix
Chromatin
DNA when is loosely structured in the nucleus and is active
Before cells divide, chromatin condense
During DNA synthesis, chromatin is replicated, producing “sister chromatids” (still attached)
Chromosomes
- Individual strands of DNA
- human diploid cells have 46 chromosomes (give or take) in homologous pairs
Centromere
Attachment point for spindle fibers that pull chromatids apart during cell division
Mitosis. Products?
- Division that results in identical cells
- Result: Two daughter cells, each containing a full, identical set of genetic information
Cell Cycle and Division (Mitosis): Why cells divide?
1) Development and Growth
- Zygote
2) Replacement and Repair
3) Sex
Zygote
- Single cell formed by union of sperm and egg
- By adulthood, we have trillions of cells
Cell Cycle and Division (Mitosis): Two Main Phases?
- Interphase: Active growth and function
2. M-Phase: Mitosis - actual cell division
Interphase
- Active growth and function
- Gap 1 (G-1) = Rapid growth of cell and structures; cell is metabolically active
- S = DNA synthesis, chromatin is (chromatids are) replicated; cell is metabolically active
- Gap 2 (G-2) = Proteins for mitosis is synthesized, centrioles replicated; cell is metabolically active
M-Phase
-Mitosis – Actual cell division
- Four Phases + Cytokinesis:
- Prophase
- Metaphase
- Anaphase
- Telophase
Prophase
- Chromatin condenses
- Replication stops
- Nuclear membrane breaks down
- Mitotic spindles grow from centrioles
Metaphase
- Spindles attach to chromosomes
- Chromosomes positioned along center of cell
Anaphase
- Sister chromatids pulled apart to form separate identical chromosomes
- Chromosomes pulled to opposite poles
Telophase and Cytokinesis
- Nuclear envelope forms
- Mitotic spindles disassemble
- Cytokinesis
Human Chromosomes
- Homologous Pairs - a pair of chromosomes that carry the same genes, but potential different versions (alleles)
- Sister Chromatids - identical, attached copy of chromosome
- Numbers in ‘Diploid cells’
- Sex Chromosomes
Alleles
- Different forms (versions) of a specific gene
- Different alleles may produce the same resulting protein
- OR produce differences in resulting proteins and differences in physical traits
- Represent differences in nucleotides of the gene
- Differences may or may not produce differences in the resulting protein
- Can be homozygous or heterozygous
- Can be dominant or recessive
Sister Chromatids
Result of DNA replication
Identical and attached at centromere
Meiosis
-Sex! But not in a fun way
- Brief Overview:
- resulting in genetically different cells
- these cells have ½ the # of chromosomes (haploid cells)
- male or female gametes
Purpose of Meiosis?
1) Meiosis selectively reduces the number of chromosomes in gametes (if it didn’t do this, there’d be too many chromosomes; selective reduction in the number of chromosomes in gametes
2) Genetic recombination to increase genetic diversity of offspring
Meiosis
- Cell division associated with sex
- Haploid cells: carry half the number of chromosomes
- Result in genetically different cells
- Male or female gametes
- Has two cell divisions; the process is a lot like Mitosis, but it has two cell divisions (Meiosis I and Meiosis II)
- Remember spermatogenesis and oogenesis!
Meiosis I (first cell division)
- Starts after the end of Interphase
- Like Mitosis, but the homologous chromosome pairs separate; homologues chromosome pairs are pulled apart (not the same chromatids as in mitosis); not the sister chromatids
- Crossing-over: exchange of genetic information between non-sister chromatids; specific genes have been switched (exchanged) on the homologous chromosomes
- Results in only 23 chromosomes in each cell
- Semi-random segregation of maternal and paternal chromosomes
Crossing-Over
- Exchange of genetic information between non-sister chromatids
- Specific genes have been switched (exchanged) on the homologous chromosomes
- LOOK IN MEIOSIS PACKET
Meiosis II (second cell division)
- Like in mitosis, sister chromatids are pulled apart
- Chromatids are selectively pulled apart
- Results in 4 haploid cells that are highly genetically diverse, containing 23 chromosomes each
Independent assortment of chromosomes
-It’s another way that meiosis generates genetic variation
Nondisjunction
- Problem with meiosis
- It is when during anaphase I, homologues pairs do not separate, or during anaphase II, sister chromatids do not separate
- Results in sperm or egg cells with abnormal chromosome numbers
Imbalance in chromosome number causes what?
- Abnormality in development
- Most result in death of fetus (miscarriage)
- Includes many syndromes
Syndromes
- Down
- Turner
- Klinefelter
- Triple-X
- Jacob
Down Syndrome
- Extra chromosome 21
- Limits in mental development
- Abnormal skeletal growth - short stature and body parts
- Facial features: flattened nose, protruding tongue that forces mouth open, folded skin at corner of eyes
- Heart and digestive defects are common
- Risk of down syndrome increases with mother’s age; increase rapidly after 30; by age 45, the mother is 45x more likely than at age 20
Turner Syndrome
- XO
- Infertile
- Reduced stature
Klinefelter Syndrome
- XXY
- Limited testosterone
- Often sterile
Triple-X Syndrome
- XXX
- Fertile, but occasional learning disabilities
Jacob Syndrome
- XYY
- Often taller
- Often lower than normal intelligence
- He says good example is: prisoners
Gene Expression
-Basic Model (aka Dogma of gene expression):
DNA (gene) → RNA → Protein → Phenotype
- Physical expression of proteins determines the “traits” (characteristics) of the organism
- Phenotype: phenotypic expression; physical expression of genes
Phenotype
Physical expression of genes
Physical expression of genotype
Genotype
The two alleles that represent a gene
Homozygous
- Individuals with identical copies of an allele
- AA or aa
Heterozygous
- Individuals with different alleles
- Aa
Dominant
-An allele that determines phenotype regardless of the other allele present
Recessive
-An allele whose effect is masked by the dominant allele
Incomplete Dominance
- Each copy of a dominant allele provides some expression
- Heterozygotes: thus a heterozygous individual only produces half the expression of a homozygous individual (one functioning protein, one nonfunctioning protein)
- Ex: pink flower
Sickle Cell Anemia
- Heterozygous individuals suffer from sickling and clumping of cells under prolonged drops in blood level oxygen
- Homozygous individuals suffer from multiple problems and often have shortened life expectancy
- Malaria parasite gets into bloodstream, and people with sickle cell anemia in Africa can use sickle cell to defend against Malaria
Can you have 3 different types of alleles?
Yes.
Multiple Alleles
- Most genes have more than two alleles
- Alleles are population parameters; we are a population, not individual
- Different alleles, maybe just not in you
- Ex: Multiple blood types
Blood Types
-Determined by polysaccharides on the surface of blood cells
-Phenotypes: Type A Type B Type AB Type O (=neither)
-Genotypes: AA, Ao BB, Bo AB (codominance) Oo
-LOOK IN INHERITANCE PACKET
Codominance
-Ex: AB blood type
Polytypic Inheritance. Polygenic Inheritance?
- Most traits are governed (produced) by multiple genes, each with multiple alleles
- In such cases, phenotypic expression of the trait is a continuum from when viewed in a population
- Ex: Height
- Determined by multiple genes, each with its own alleles
- Phenotype strongly influenced by environment
-Results in lots of phenotypic variation in a population – which often manifests as a continuum of characteristics
Sequences of bases in DNA is transcribed to ____?
RNA
The 3-base-pair code of RNA translates to ______?
Amino Acids
Within ribosomes, amino acids strung together produce _____?
Proteins
Proteins are molecules that facilitate/regulate chemical reactions, providing ____?
Movement/Transport
What other functions are nucleotides associated with? Related to chromosomes how?
- ATP! (energy used to run biochemical machinery)
- Genes carry chromosomes
RNA Polymerase
-An enzyme that moves along the DNA, unwinding and unzipping the strands