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totipotent
can differentiate into any type of cell
eg cells in zygote / all plant tissue
issues with embryonic stem cells
ethical issues. cannot conesnt, some believe that life starts at conception
Stem cell defintion (3)
undifferentiated cells
capable of continuous division
divide to renew themselves over long periods of time and can develop into other specialised cell types
pluripotent deifinition and example
can differentiate into a limited number of specialised cells
eg embyonic / fetal
multipotent
can differentiate into a limited number of specialised cells
eg bone marrow producing any type of blood cell
unipotent
can only differentiate into a single type of cell
eg cardiomyocyte
explain induced pluripotent cells (3)
pluripotent stem cell that is produced from unipotent stem cells eg. any body cells
cells are genetically altered in a laboratory by inducing genes and transcriptional factors within cellls to express themselves
are capable of self renewal, therefore theoretically provide limitless supply
Pros (2) and cons (3) of stem cells treating human disorders
pros:
do not require donors for organ transplants
less / no chance of rejection
cons:
possibility of uncontrolled cell division
ethical debate regarding use of human embryos
iPS are new technology, long term effects are unknown
somatic cell definition
diploid, specialised cellthat has been differentiated to become specialised to perform specific functions
all somatic cells are genetically identical
gene expresion is controlled by (3)
epigenetics
regulating translation
regulating transcription
explain regulating transcription (6)
promotor region of a gene regulates expression
oestrogen diffuses into the cell through the phospholipid bilayer
attaches to the inactive transcription factor
activated transcription factor enters nucleus through nuclear pores
attaches to promotor region
allows for RNA polymerase to begin transcription
Transcription factor (3)
molecules (usually proteins) that bind to the promotor region
which allow RNA polymerase to bind to the gene and intitiate transcription
can be activated or inhibited by other molecules
regulation of translation (7)
Occurs if theres a high concentration of mRNA in cytoplasm
double stranded RNA is produced
is hydrolysed by enzymes, producing short lengths of double stranded RNA (siRNA)
one strand, which is complimentary to mRNA attaches to enzymes
single stranded siRNA attaches to the mRNA
mRNA can’t be translated
polypeptide / protein is not produced
Enzymes involved in regulating translation (3)
RNA dependent RNA polymerase
Dicer
Argonaut
Chromatin
composed of DNa molecules wrapped around histone proteins
structure can be altered so that nucleosomes are closer together or further apart
nucleosomes being further apart allows them to be expressed
nucleosomes
strands of DNA wrapped around histone
epigenome and examples
chemical tags which attach to DNA or histone proteins
examples: acetyl and methyl groups
explain methylation and demethylation of DNA
methylation causes chromatin to become more condensed, so harder for DNA to be transcribed. gene is silenced
demethylation causes chromatin to be less ocndensed, easier for DNA to be transcribed, so genes are expressed
explain deacylation and acylation of HISTONES
deacylation causes chromatin to become more condensed, so harder for DNA to be transcribed. gene is silenced
acylation causes chromatin to be less ocndensed, easier for DNA to be transcribed, so genes are expressed
explain the results of the rat licking experiment
high licking and grooming / low licking and growing
increases serotonin / decreases serotonin
enzymes activated / enzymes not activated
DNA is unmethylated / DNA stays methylated
GR expressed / GR unexpressed
low conc. cortisol and low anxiety / high conc. cortisol and anxiety
Genome
all genes in a cell
Proteome
full range of proteins a cell / tissue / organism can produce
Mutation definition
Random change in DNA base sequence
When do mutations occur
Interphase / DNA replication
Consequence of DNA mutation (6)
Change in DNA base sequence
Change in sequence of mRNA codons
Change sequence of amino acids in polypeptide chain
Changes position of ionic / disulfide bonds
Changes in tertiary structure of protein
Protein is non-functional
Types of dna mutation (6)
Substitution
Deletion
Addition
Duplication
Inversion
Translocation
Substitution definition
One nucleotide base is incorrectly copied
Changes only one amino acid
May not change sequence due to degenerate code
Deletion definition
One nucleotide base isn’t copied
frame shift
All amino acids that downstream from the mutation are changed
Polypeptide chain would be shorter (or longer if stop codon removed)
Additional definition
Additional nucleotide base is inserted into the new DNA
Frame shift
Polypeptide chain is longer
Duplication definition
Sequence of bases copied multiple times
Sequence of amino acids duplicated
Polypeptide chain is longer
Inversion definition
Sequence of bases is inverted
Amino acids duplicated Polypeptide sequence is reversed
Translocation definition
Sequence of bases is transferred to different chromosome
How can a mutation be silent (4)
mutation occurs in intron
Degenerate DNA code
Inversion: sequence is palindromic
Change of shape occurs not in active site, so protein is still functional
Describe proto-oncogenes (5)
codes for growth hormone and growth hormone receptors, and growth factors
Which promote progression of the cell cycle
Initiate DNA replication
Stimulate cell division
Inhibit apoptosis
Describe tumour surpressor genes (3)
code for proteins that inhibit progression of cell cycle
Inhibit DNA replication and cell division
Stimulate apoptosis
Describe benign tumours (4)
grow in one place and do not spread
Grow slowly and are surrounded by capsule (primary tumour)
Non cancerous
Treatment usually involves surgery
Describe malignant tumours (4)
Have cells which break off and spread around the body (metastasis)
Grow rapidly and not surrounded by capsule
Cancerous and form secondary tumours
Treatment involves surgery and chemotherapy or radiotherapy
How can mutations to proto oncogenes cause cancer
Proto oncogenes mutate to form oncogenes
Permanently activated / expressed
Imcreases production of proteins that stimulate DNA replication and cell division
Treatment of breast cancer (6)
Inhibit enzyme that synthesises production of oestrogen
Inhibit the ERa transcription factor, binding to ERa so oestrogen can’t bind, inhibiting growth of tumour
Use siRNA to prevent translation of oncogenes
Epigenetic drugs to methylate oncogenes or acylate tumour surpressor genes
Monoclonal antibodies to bind ro growth factor receptor