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genome
complete set of genetic instructions for any organism
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Richard Dawkins
- 1. believe all organisms evolved from some dna
- 2. uses analogy that it flows like a river
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Subdisciplines of genetics
- 1. transmission
- 2. molecular
- 3. population
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Transmission genetics
- 1. (also known as classical genetics)
- 2. relation between chromosomes and heredity,
- 3. arrangement of genes on chromosomes
- 4. gene mapping
- 5. focus on INDIVIDUAL ORGANISM
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Molecular genetics
- 1. chemical nature of gene itself
- 2. how genetic information is :
- a. coded
- b. expressed
- c. replicated
- 3. cellular processes such as:
- a. replication
- b. transcription
- c. translation
- 4. gene regulation
- 5. Structure, Organization, Function
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Population genetics
- 1. genetic composition of GROUPS of same species and how that changes over time and space
- 2. (study of evolution)
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model genetic organims
- 1. short generation time
- 2. large but manageable nubmers of progeny,
- 3. adaptability to lab environment
- 4. housed inexpensively
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Ex. of model organisms
- 1. fruit fly
- 2. mouse
- 3. zebra fish
- 4. e.coli
- 5. caenorhabditis elegans (nematode)
- 6. Arabidopsis thaliana , (thale cress plant)
- 7. bakers yeast
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zebrafish used in
finding difference in melanosomes in ppl
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pangenesis
- A. specific pieces of information travel from various parts of the body to the reproductive organs , from which are passed to embryo
- B. ancient Greeks
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Inheritance of acquired characteristics
- 1. traits acquired by person are passed on by person gentically
- 2. ex/ if practiced french horn then children are talented automatically in french horn
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preformationism
- inside sperm or egg belongs a miniature adult
- (homonculus)
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blending inheritance
- blending of both maternal and paternal traits (genetic material itself)
- b. gregor mendel disproved this theory with the alleles
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cell theory
- 1. all life is composed of and cells arise only from cells
- 2. is the fundamental structure of life
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germ plasm theory
- 1. all cells contain a complete set of genetic information
- 2. proven by cutting off the tails of 22 consecutive generations of mice and the next generation still producing a long tail. (August Weismann)
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genes come in multiple forms called alleles
a genes that specifies a characteristic may exist in several forms called alleles.
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DNA categorized into 3 hierarchical levels
- 1. primary structure
- 2. double -stranded sequence
- 3. higher order folding helix
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supercoiling
- 1. type of tertiary structure
- 2. subjected to strain by being over or underwound
- 3. subject to when dna is circular and no free ends to help destrain
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relaxed state
helix wound 10 bp per turn , which is LOWEST energy state
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positive supercoiling
overrotated helixes, overstrained
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negative supercoiling
under supercoiling
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how eukaryotic and bacterial dna avoid usually work
- proteins help dna fold into loops and connect to them
- 2. then no more free rotation of ends, and superocoiling occurs :(
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topoisomerases
- 1. enzymes that add or remove rotations from DNA helix by
- a. temporarily breaking the nucleotide strands
- b. rotating ends around each other
- c. rejoining broken ends
- 2. can fix or worsen the problem
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most DNA is
- negatively supercoiled
- A. allows easier separation of DNA
- B. underrtotated (two turns removed), allows faster transcription and replication along with LESS energy
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bacterial chromosome
- A. single circular dna
- B. not open relaxed
- C. no histones, but proteins
- D. nucleiod: DNA in a defined clump in cytoplasm
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Eukaryotic chromosomes
- 1. single, extremely long linear molecule of DNA
- 2. chromosomes in uncondensed in interphase
- 3. packing of eukaryotic DNA is NOT static
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chromatin
- eukaryotic DNA + protein
- A. euchromatin: normal process of condenssation and decondensation in cell cycle
- i. where the majority of transcription takes place
- B. Heterochromatin: remains in highly condensed state throughout cell cycle, even during interphase
- i. majority of chromatin. Found perm. in centromeres, telomeres, predominately in Y chromosome,
- ii. facultative heterochromatin: found in developmental stages
- iii. by a general lack of transcription
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histones
- 1. most abundant protein in chromatin
- 2. postively charged proteins of five major types, H1, H2a, H2b, H3, H4
- 3. high % of + charged arginine and lysine
- 4. attracts PO4 on DNA
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nucleosome
- 1. simplest form of chromatin
- 2. DA wrapped about 2x around an octamer of 8 histone proteins 2 copies each of H2a, H2b, H3, H4
- 3. like thread wound around a spool
- 4. has "tail" : 11-37 amino acids that extend out from it. this + charged tail interacts w/ DNA to keep the whole structure tightly packed
- 5. H1: binds to 2-22 bp of DNA ; acts as a clamp around DNA
- 6. separated by linker DNA, 30-40 bp varies in size among cell types.
- 7.
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acetylation
1. enxymes called acetyltranferases attach acetyl groups to lysine amino acids on histone tails to LOOSEN DNA winding
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epigenetic changes
- alterations of chromatin structure that are passed on to descendent cells or individuals are frequently referred to as this or EPIGENETICS
- ex/ genomic imprinting
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Cetromeres
- 1. proper chromosome movement
- 2. binding sites for kintochore
- 3. heterochromatin majorly
- 4. not defined by DNA sequence but by epigenetic changes in chromatin struture.
- 5. Cen H3 in nucleosome versus H3
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Telomere
- 1. serve as capsand stabilization
- 2 ends of replicating ends of chromo.
- 3. telomeric sequences: repeated adenine or thymine nucleotides followed by guanine
- 4. shelterin: (multiprotein compex) binds to telomeres and protects ends of DNA from being inadvertantly repaired as a double strand break in the DNA
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C-value
the variance of dna depending on which euk cell
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C-value paradox
variation in DNA, irony that some complex organisms have less (like humans have less than salamanders)
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3 sequence types of Euk. DNA
- 1. unique sequence DNA
- 2. moderately repetitive DNA
- 3. highly repetitive DNA
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Unique sequence DNA
sequences presen only once or few times
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repetitive DNA
- exist in many copies
- almost half the human genome consists of repetitive DNA
- A. moderately repetitive DNA: 150 -300 bp many 1000x's of times
- I. tandem repeat sequences (clustered)
- II. Insterspersed repeat sequences (scattered)
- i. SINE
- ii. LINE
- B. Highly repetitive DNA: < 10 bp 100- 10^6 in presence
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demystified about bacteria
- not all bacteria just only circular chromosome:
- 1. some bacteria have DNA on plasmids
- 2. Eukaryotes: some genes are circular DNA ex/ on organelles (mitochondria, chloroplasts)
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For successful reproduction , these 3 steps:
- 1. genetic info copied
- 2. copies of gen. info separated from each other
- 3. cell must divide
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prokaryotic cell division
thru binary fission:
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eukaryotic fission
- 1. chromosomes separated from cytoplasm by NUCLEAR ENVELOPE
- 2. nuclear matrix: network of protein fibers in nucleus, helps in DNA rep.
- 3. etc
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homologous pair
- 1. both carry info for same set of hereditary characteristics
- 2.
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diploid
- 1. 2 sets of genetic info
- 2. 2n
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haploid
- 1. single set of chromosomes
- ex/ sex cells
- 2. n
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polyploid
> 2 sets of genetic info
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chromosome, 3 essential elements:
- 1. pair of telomeres
- 2. origins of replication
- 3. centromere
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spindle microtubules
- 1. filaments responsible for moving chromosomes during cell division
- 2. attachment point for these structures is centromere
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kinetochore
- 1. kinetochore: assembles on the centromere
- a, (a multiprotein complex)
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telomeres
- ends of chromosome, play role in stabilization
- b. may contribute to aging , cancer
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origins of replication
- DNA synthesis begins
- b. multiple sites on eukaryotic chromosome
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cell cycle
- 1. life story of a cell
- 2. parent cells passed to daughter cells
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checkpoints
- allow or prohibit the cell's progression to the next stage
- b. allows all cellular processes are in good working order, and hey are necessary to prevent cells with damaged or missing chromosomes from proliferating
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interphase
- 1. 1st phase of cell cycle: period between ell divsiions, the cell develops, GROWS, and functions
- 2. 3 phases: G1, S, G2
- A. G1: cell grows and produces proteins that's role are necessary for cell division
- I. G1/S checkpoint holds cell in G1 until all enzymes necessary for the replication of DNA.
- II. may not pass into S phase , instead go to Go phase. (nondividing phase) many cells never enter G0, but some can be held in here indefinitely
- III. S phase: where chromosome is DUPLICATED
- a. if dna synthesis is blocked by drug or mutation, then chromosomes will not be duplicated
- IV. at end of S phase , there are now 2 chromatids
- 3. there are critical steps for cell division in this step as well
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M phase (mitotic phase)
- 1. period of active cell division
- 2. mitosis, (nuclear division)
- 3. cytokinesis: cytoplasmic division
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meiosis
leads to gametes, number of chromosomes is halved
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fertilization
2 haploid gametes fuse and restore # of chromosomes to its original diploid value
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Meiosis specifically
- 1. Meiosis I: cell division (reduction bc # of chromosomes is halved)
- A. Prophase I: lengthy stage in which chromosomes orm homologous pairs an crossing over takes place
- a. crossing over: essential to genetic variation , cross at chiasma
- b. nucelar membrane breaks down
- B. Metaphase I: homologous pairs align along the meaphase plate
- C. Anaphase I: separation of homologous chromosomes
- D. Telophase I: chromosomes arrive a spindle poles and cytoplasm divides
- - INTERMEDIATE- interkinesis: nuclear membrane re-forms around chromosomes clustered at each pole
- 2. Meiosis II:
- a. equational division
- 3.
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chromosome mutations
- 1. indiv. chromo. may lose or gain parts,
- 2. order of genes altered
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acrocentric
- 1. type of chromosome structure
- 2. centromere is near one end, producing a long arm and a knob, or satellite , at the other end
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telocentric
centromere at or very near end of chromosome
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karyotype
complete set of chromosomes possessed by an organism
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chromosome rearrangements
- structures that change structure of individual chromosome
- 1. inversion
- 2. deletion
- 3. duplications
- 4. translocation
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duplications
- 1. tandem dup.: dup. ADJACENT to the original segment
- 2. displaced dup: duplicated farther away from original
- a. can be identical or inverted,
3. can effect phenotype
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segmental duplications
duplications greater than 1000 bp
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duplications are important bc:
allow new genes to evolve.
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deletions
can be lethal , especially in centromeric region
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pseudodominance
expression of normally recessive mutations on homologous chromosome lacking the deletion may be expressed when wild-type allele has been deleted (and no longer able to mask recessive allele expression)
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inversions
1. creates problems if heterozygous,( the inversion doesn't cancel out)
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genetic variations in meiosis
- 1. crossing over in prophase I of meiosis one.
- 2. so homologous pairs of chromosomes migrate to opposite ends of cells in anaphase 1. although chromosome 1's,2's, etc. line up , the there isn't a certain order as to whether the paternal side or maternal side is on either side.
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cohesin
- protein that allows chromatids to stick together during metaphase in mitosis and meiosis.
- is not broken in anaphase 1 of meiosis 1 in centromere thanks to shugoshin, a protein that prevenst separation of two sister chromatids during anaphase 1.
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