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CELLS how it all comes together IDNA is in nucleus of cell in chromosomes
DNA is an helix strand & is supercoiled ipackages = chromosomesHumans = 23 chromosome pairs (46 total)22 autosomes + 2 sex chromosomes
Cells have a lifecycle cell cycle part ocycle involves replication.
Cells must divide!If a somatic cell mitosis (to replicate)
If a germ cell meiosis (to form gametes
CELLS how it all comes together II
Cells have a lifecycle (cell cycle_ part of cycle involves duplicating
Cells must divide!If a somatic cell mitosis (to replicate)If a germ cell meiosis (to form gametes
CELL CYCLE
Cell cycle checkpoint (G1/S)P53 or Rb (retinoblastomaproduct) can holt cycle here ifDNA damage found
Cell cycle checkpoint(G2/M)Cycle can Holt here ifDNA damage found
FYI!!CHROMATID is actually one copy of all the DN
a chromosome eg chromosome 1 these are wexist in a cell in between divisions. The familiar clooking chromosome is actually what DNA looksafter its replicated ie the cross is made of twochromatids, one copy of the other. Be careful, asterm chromosome is often used for both.
ZoomZoomZoom
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INTERPHASE
Cell between divisions chromosomes NOT visibleby LM
Consists of three phases:G1 Phase
Growth. Metabolism,preparation for division
S Phase
DNA replication: chromatidsbecome chromosomes
G2 Phase
As G1 prepare for Mitosis
PROPHASE
Chromosomes condense
Nuclear membranedisappears
Spindle fibers appear &attach
METAPHASE
Centromeres of chromatidpairs line up alongmeta late of cell e uator
ANAPHASE
Centromeres divide &chromatids (one from eachpair) move to oppositepoles of cell
TELOPHASE
Nuclear envelopereappears
Chromosomesuncondensed (chromatin)
Spindles break up
CYTOKINESIS
Cytoplasmic division Cleavage furrow forms &
progresses inwardsseparating cytoplasm intotwo
FYI!!Sometimesintermediatephases arealsoconsidered egprometaphaseas illustrated toleft.
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REDUCTION DIVISION (Meiosis II)Basically the same as Meiosis I
PROPHASE I- Chromosomes condense- Nuclear envelope disappear- Chromosomes arrange in
homologous pairsMETAPHASE II
- Homologous pairs line up on theequator
ANAPHASE II- members of homologous pairs
separate with one member movingto each end
- centromeres do not splitTELOPHASE II
- cells now haploid cf original
- nuclear envelope reappears- chromosomes decondense- CYTOKINESIS
Final product:4 haploid cells all genetically different
REDUCTION DIVISION (Meiosis I)PROPHASE 1
- Chromosomes condense- Nuclear envelope disappear- Chromosomes arrange in
homologous pairs- Crossing over occurs now
METAPHASE 1- Homologous pairs line up on the
equatorANAPHASE 1
- members of homologous pairs
separate with one member movito each end
- centromeres do not splitTELOPHASE 1
- cells now haploid cf original- nuclear envelope reappears- chromosomes decondense- CYTOKINESIS
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DEFINITION!!Nucleoside: base + sugarNucleotide: base + sugar +phosphate
DNA Repllication- Begins when specialized enzymes unzip DNA double he- As the two strands separate, purine & pyrimidine bases on
each strand are exposed & are sticky, hence attract theircomplementary bases (as free nucleosides & nucleotides)from within nucleus. One strand runs in a 3-5 direction, anthe other in the opposite direction
- The original strand of DNA with sticky ends directs the
synthesis of a new strand of DNA through complementarybase pairing. DNA polymerase enzyme joins all thenucleotide components to one another.
- Old strand then unites with new strand to reform a doublehelix.
DNA polymerase joins nucleotides in a 5end-3end directiontherefore can run along one strand (leading strand) easily. Howevthe other strand requires it to run in the opposite direction. Therefothe 3-5 strand (lagging strand), is synthesized in short segments the correct 5-3 direction. These short segments placed on thelagging strand are Okazaki fragments& are ultimately joinedtogether by the enzyme DNA ligaseto form the new DNA strand.
See picture below
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OVERVIEW
2 PROCESS:
TRANSCRIPTION
Relevant part of DNA unzipped & transcribemRNA which is single stranded & moves ouinto cytosol to Ribosomes.
TRANSLATIONmRNA feeds through Ribsome which readsgroups of three (codons) & translates to tRNwhich goes and fetches the correspondingamino acid as determined by the genetic cod(see wheel). Ribosome then connects eachamino acid to the chain to create the proteinencoded by the gene.
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TRANSCRIPTION
TRANSLATION
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Sin gl e b a s e s u b s t i t u t io nsA single nucleotide base becomes replaced by another. These single base changes are also called pointmutations. If a purine (a, t purine or a pyrimidine (c, g) pyrimidine = transition. If a purine pyrimidine orvice-versa = transversion.
MISSENSE MUTATIONS- New base alters a codon resulting in a different amino acid
being incorporated into the protein.
- Eg Sickle Cell Anaemia: 17th nucleotide in gene for chainof Hb changes from AT = codon GAGGGT = sixth aachanges from GluVal altering quaternary structure of Hb =pathology!
NONSENSE MUTATIONS- New base changes a codon from coding for an aa to a stop
codon which causes translation of mRNA to stop
prematurely = truncated protein unlikely to function- Occur in 15-30% of all inherited diseases incl. CF,
Haemophilia, DMD
SILENT MUTATIONS- Substitution of a base which causes no change in the aa &
the final protein- Can uccur because numerous codons encode the same aa.- Only detectable by sequencing the gene
SPLICE SITE MUTATIONS
- Introns must be spliced out from mRNA to produce correct protein & must be very accurate- Guided by nucleotide signals at the splice sites- If a mutation alters these, the intron may not be removed = incorrect protein produced
INSERT IONS AND DELET IONS- Extra base pairs (from a few to thousands)
may be added or deleted for DNA of a gene- Insertions & deletions of one or two bases or
multiples of one or two causeFRAMESHIFTS (shift in the reading frame ofthe triplet codons) = can be devastating &
protein may be useless- Insertions or deletions of 3 or multiples of 3may be less serious as they preserve theopen reading frame- Eg Huntingtons Disease or fragile Xsyndrome both trinucleotide repeat diseases where a triplet is repeated
CHROM OSOM A L M UT A T IONS- Any change in the structure or arrangement of the chromosomes- Occur more frequently in the crossing over stage of meiosis
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TRANSLOCATIONS
- the transfer of a piece of one chromosome to a non-homologous chromosome
- They are often reciprocal, with the two chromosomesswapping segments with each other
- Eg Philadelphia Chromosome in CML between Chr 9and 22 = abnormal hybrid gene (bcr-abl) = novel gainof function protein
INVERSION- A region of DNA on the chromosome can flip its
orientation with respect to the rest of thechromosome.
DELETIONS
- A large section of a chromosome can be deletedresulting in the loss of a number of genes.
DUPLICATIONS- Some genes are duplicated and displayed twice on the same chromosome
CHROMOSOME NON-DISJUNCTION- During cell division, the chromosomes fail to successfully separate to opposite poles, resulting in one of
the daughter cells having an extra chromosome and the other daughter cell lacking one.- Can occur at Meiosis 1 or 2 producing some gametes with 2 copies of one chr. = at fertilization when
coupled with the other parents copy totals 3.- EG Down Syndrome.
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