Cell biology - theme 3 Flashcards

1
Q

why might entry to interphase be delayed

A

delayed by entry into G₀ due to lack of mitogens to produce cyclin

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2
Q

what does cyclin do

A

activate cyclin dependent kinases (CDKs) to drive cell through cell cycle by phosphorylation

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3
Q

what do CDKs do

A

drive cell through cell cycle by phosphorylation
different CDKs for different phases of cell cycle
- S phase, increase S cyclin, increase CDKs for DNA replication
- M phase, increase M cyclin, increase mCDK activity

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4
Q

what can cause cancer

A

mutated p53 protein allows damaged DNA to be in daughter cells of mitosis so they are mutated

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5
Q

what does p53 protein do

A

DNA damage activates p53 to inhibit CDKs to block cell cycle at G1 to allow DNA repair

excessive DNA damage activates p53 to stimulate Bax to trigger apoptosis

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6
Q

apoptosis

A

programmed cell death caused by cascade of intracellular caspases

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7
Q

how is apoptosis suppressed

A

suppressed by mitogens and growth factors

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8
Q

general steps for apoptosis

A

Fas ligand binds to cell with Fas receptor
cascade of intracellular caspases
cleaves cytoskeleton so detaches from adjacent cell
cell shrinks
DNAses fragment DNA
membrane changes to trigger phagocytosis
cell engulfed and digested by macrophages

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9
Q

how does mitochondrial injury lead to apoptosis

A

damaged mitochondria leak cytochrome-c

cytochrome-c activates caspases

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10
Q

necrosis

A

accidental cell death caused by acute physical and chemical injury

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11
Q

steps of necrosis

A

cell swells and bursts (lysis)
releases contents
triggers inflammatory response
damage

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12
Q

non-disjunction

what does it cause

A

homologous chromosomes do not separate so one cell has none and other has two
aneuploidy and polyploidy

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13
Q

aneuploidy

A

loss or gain of one or more chromosomes

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14
Q

trisomy

e.g. Down’s, Edward’s

A

type of aneuploidy where 1 chromosome is gained
Down’s 21
Edward’s 18

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15
Q

monosomy

e.g. Turner’s

A

type of aneuploidy where 1 chromosome is lost

Turner’s lack of X or Y

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16
Q

polyploidy

A

addition of one or more complete haploid chromosomes

17
Q

triploidy

A

type of polyploidy where 3 of each chromsome so 69 chromosomes

18
Q

translocation

A

a piece of chromosome form one homologous part breaks off and join chromosome from a different pair

19
Q

what prevents G1 -> S phase

A

p27 protein inhibits CDKs

20
Q

germline mutations

A

occur in germ cells/ gametes

inherited disease

21
Q

somatic mutations

A

occur in somatic/ adult cells during development or adult life
not inherited

22
Q

dominant-negative mutation

A

loss of function due to interference of mutant gene product with normal gene product of corresponding allele

23
Q

types of nucleotide deletion mutations (3)

A

multiple of 3 (codon) - in frame deletion removes one amino acid

not multiple of 3 - frameshift loses protein expression and function

larger deletions - partial/ whole gene deletion, complete loss of protein expression and function

24
Q

types of nucleotide substitution mutations

by replacement of nucleotide (2)

A

transition - substitution of same base type e.g. purine for purine

transversion - substitution of different base type e.g. purine for pyrimidine

25
types of nucleotide substitution mutations | effect of gene/ protein expression/ function (5)
silent - codes for same amino acid, no effect missense - encodes different amino acid nonsense - introduces stop codon splice site - aberrant splicing results in exon skipping or intron retention promoter or regulatory element - altered expression levels
26
errors in DNA repair (4)
mismatch repair - corrects mismatched bases in DNA replication nucleotide excision repair - removes thymine dimers and DNA adducts base excision repair - removes abnormal bases post replication repair - removal of double stranded breaks by homologous recombination
27
chemical damage to DNA e.g.
alcohol, toobacco form DNA adducts cause depurination (deletion) or deamination (substitution)
28
physical damage to DNA e.g.
ionising radiation e.g. X rays causes double strand breaks UV light form thymine dimers
29
causes of DNA mutation
DNA replication errors by proofreading mistakes of DNA polymerase chemical damage physical damage errors in DNA repair
30
mutation of sickle cell anaemia
beta globin mutation A-T transversion | GAG -> GTG so Glu to Val
31
mutation
DNA variant with frequency <1% population
32
polymorphism
DNA variant with frequency >1% population and must have two alleles e.g. single nucleotide polymorphism (SNP)
33
polygenic traits
influenced by other genes
34
multifactorial traits
influenced by interaction of genetic and environmental factors