Bio 313 Iowa State

  1. how many genes
    20,000
  2. genome
    complete set of genetic instructions for any organism
  3. Richard Dawkins
    • 1. believe all organisms evolved from some dna 
    • 2. uses analogy that it flows like a river
  4. Subdisciplines of genetics
    • 1. transmission
    • 2. molecular
    • 3. population
  5. 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
  6. 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
  7. Population genetics
    • 1. genetic composition of GROUPS of same species and how that changes over time and space
    • 2. (study of evolution)
  8. model genetic organims
    • 1. short generation time
    • 2. large but manageable nubmers of progeny,
    • 3. adaptability to lab environment
    • 4. housed inexpensively
  9. 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
  10. zebrafish used in
    finding difference in melanosomes in ppl
  11. 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
  12. 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
  13. preformationism
    • inside sperm or egg belongs a miniature adult
    • (homonculus)
  14. blending inheritance
    • blending of both maternal and paternal traits (genetic material itself)
    • b. gregor mendel disproved this theory with the alleles
  15. cell theory
    • 1. all life is composed of and cells arise only from cells
    • 2. is the fundamental structure of life
  16. 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)
  17. genes come in multiple forms called alleles
    a genes that specifies a characteristic may exist in several forms called alleles.
  18. DNA categorized into 3 hierarchical levels
    • 1. primary structure
    • 2. double -stranded sequence
    • 3. higher order folding helix
  19. 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
  20. relaxed state
    helix wound 10 bp per turn , which is LOWEST energy state
  21. positive supercoiling
    overrotated helixes, overstrained
  22. negative supercoiling
    under supercoiling
  23. 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 :(
  24. 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
  25. 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
  26. bacterial chromosome
    • A. single circular dna
    • B. not open relaxed
    • C. no histones, but proteins
    • D. nucleiod: DNA in a defined clump in cytoplasm
  27. Eukaryotic chromosomes
    • 1. single, extremely long linear molecule of DNA
    • 2. chromosomes in uncondensed in interphase
    • 3. packing of eukaryotic DNA is NOT static
  28. 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
  29. 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
  30. 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.
  31. acetylation
    1. enxymes called acetyltranferases attach acetyl groups to lysine amino acids on histone tails to LOOSEN DNA winding
  32. 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
  33. 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
  34. 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
  35. C-value
    the variance of dna depending on which euk cell
  36. C-value paradox
    variation in DNA, irony that some complex organisms have less (like humans have less than salamanders)
  37. 3 sequence types of Euk. DNA
    • 1. unique sequence DNA
    • 2. moderately repetitive DNA
    • 3. highly repetitive DNA
  38. Unique sequence DNA
    sequences presen only once or few times
  39. 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
  40. 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)
  41. For successful reproduction , these 3 steps:
    • 1. genetic info copied
    • 2. copies of gen. info separated from each other
    • 3. cell must divide
  42. prokaryotic cell division
    thru binary fission:
  43. 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
  44. homologous pair
    • 1. both carry info for same set of hereditary characteristics
    • 2.
  45. diploid
    • 1. 2 sets of genetic info
    • 2. 2n
  46. haploid
    • 1. single set of chromosomes
    • ex/ sex cells
    • 2. n
  47. polyploid
    > 2 sets of genetic info
  48. chromosome, 3 essential elements:
    • 1. pair of telomeres
    • 2. origins of replication
    • 3. centromere
  49. spindle microtubules
    • 1. filaments responsible for moving chromosomes during cell division
    • 2. attachment point for these structures is centromere
  50. kinetochore
    • 1. kinetochore: assembles on the centromere
    •  a, (a multiprotein complex)
  51. telomeres
    • ends of chromosome, play role in stabilization
    • b. may contribute to aging , cancer
  52. origins of replication
    • DNA synthesis begins
    • b. multiple sites on eukaryotic chromosome
  53. cell cycle
    • 1. life story of a cell
    • 2. parent cells passed to daughter cells
  54. 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
  55. 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
  56. M phase (mitotic phase)
    • 1. period of active cell division
    • 2. mitosis, (nuclear division)
    • 3. cytokinesis: cytoplasmic division
  57. meiosis
    leads to gametes, number of chromosomes is halved
  58. fertilization
    2 haploid gametes fuse and restore # of chromosomes to its original diploid value
  59. 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.
  60. chromosome mutations
    • 1. indiv. chromo. may lose or gain parts, 
    • 2. order of genes altered
  61. 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
  62. telocentric
    centromere at or very near end of chromosome
  63. karyotype
    complete set of chromosomes possessed by an organism
  64. chromosome rearrangements
    • structures that change structure of individual chromosome
    • 1. inversion
    • 2. deletion
    • 3. duplications
    • 4. translocation
  65. 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
  66. segmental duplications
    duplications greater than 1000 bp
  67. duplications are important bc:
    allow new genes to evolve.
  68. deletions
    can be lethal , especially in centromeric region
  69. 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)
  70. inversions
    1. creates problems if heterozygous,( the inversion doesn't cancel out)
  71. 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.
  72. 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.
Author
haleygreenbean
ID
322624
Card Set
Bio 313 Iowa State
Description
Introduction to Genetics
Updated