genetics + body plans Flashcards
what is a mutation
- changes in sequence of bases in DNA
describe substitution
- mutation
- one or more bases are swapped for another
- E.g ATGCCT becomes ATTCCT
- changes the codon
- new codon could code for a different amino acid
- this changes the primary structure of the protein
describe deletion + insertion
- one or more bases are removed/added
- E.g ATGCCT becomes ATCT/ATGCCT becomes ATGACCT
- leads to a frameshift mutation
- shifts the reading frame of the sequences (added/removed)
- so changes every consecutive codon from the point of mutation
effects of different mutations
- no effect :
- on phenotype because normal proteins are still synthesised.
- Damaging :
- phenotype is affected in a negative way - proteins aren’t being synthesised/synthesised in a non-functioning way.
- interferes with essential processes.
Beneficial :
- new and useful characteristic in the phenotype
- due to synthesis of protein
what increases rate of mutation
- mutagens
- chemical, physical or biological agent which causes mutations
- radiation (break strands of DNA)
- viruses (inserts into a genome changes base sequence)
describe how chromosome mutations occur
- affect the whole chromosome / no. of chromosomes
- caused by mutagens
- during meiosis
how can chromosome mutations affect its structure
- deletion : section of the chromosomes breaks of and is lost
- translocation : part of one chromosome break off and joins another non-homologous chromosome
- inversion : section of C breaks off, is reversed and then joins back onto C
what are housekeeping genes
- these are always expressed
- the products (e.g enzymes) of these genes are always required to allow the cell to grow
what ways can genes be regulated
- transcriptional : genes turned on/off
- post-transcriptional : mRNA is modified and regulates translation and the proteins produce
- translational : translation can be stopped/started
- post translational : modifying proteins after synthesis, changing their function
describe chromatin remodelling
- transcriptional control
- transcription isn’t possible when DNA is tightly wound
- RNAP cant access the genes
- heterochromatin is tightly wound DNA
- euchromatin is loosely wound DNA
- genes in euchromatin transcribed during interphase between cell divisions
- ensure necessary proteins are synthesised
describe histone modification
- negative DNA coils around positive histones
- histones can be modified to increase/decrease degree of packing
- acetylation/phosphorylation causes histone to become more negatively charged so DNA coils less tightly
- allows transcription of certain genes
- methylation causes histones to be more
positive so DNA coils more tightly and prevents transcription - Epigenetics = term used to describe this control of gene expression
describe lac operon
- if glucose is in short supply, lactose can be used as a respiratory substrate
- regulatory gene lacI codes for a repressor gene
- prevents transcription of structural genes in absence of lactose (down regulation)
- binds to operator
- prevents RNA polymerase binding to promoter region
When lactose present:
- binds to repressor protein
- changes shape
- repressor proteins can’t bind to operator
- RNA polymerase can bind to promoter
- three structural genes transcribed
- enzymes are synthesised
why is glucose preferred over lactose
- easier to metabolise
what is an operon + lac operon
- group of genes that are under the control of same regulatory mechanism + expressed at the same time
- LO is a group of 3 structural genes (lacY, lacZ, lacA) - code for enzymes
- lacI is a regulatory gene located near the operon.
what increases rate of trancription
- up regulated
- cAMP receptor proteins (CRP)
- only possible when CRP binds to cAMP
- transport of glucose into E.coli decreases levels of cAMP
- ## decreases rate of transcription for metabolism of lactose
describe post transcription regulation of gene expression
- RNA processing:
- product of transcription = pre-mRNA
- modified to form mature mRNA
- binds to ribosomes and codes for specific protein
- A cap (modified nucleotide) added to 5’ end
- tail (chain of adenine nucleotides) added to 3’ end
- stabilise mRNA
- delay degradation in the cytoplasm
- cap aids binding of mRNA to ribosomes
- splicing = DNA cut at specific point (introns removed , exons joined)
RNA editing:
- mRNA nucleotide sequence can be modified through base addition, deletion or substitution
- same effect as point mutations
- synthesis of diff protein = diff function
- increases range of proteins produced from mRNA mol
What are:
- introns
- exons
- non-coding DNA
- coding DNA
what regulates the process of protein synthesis
- degradation of mRNA : more resistant mol, longer in the cytoplasm, more protein can be synthesised
- inhibitory proteins binding to mRNA to prevent it from binding to ribosomes and synthesise proteins
- activating initiation factors which help mRNA bind to ribosomes
describe protein kinases
- enzymes
- catalyse addition of P to proteins
- addition of phosphate changes tertiary structure
- changes function of protein
- enzymes activated by phosphorylation
- PK important regulators of cell activity
- PK activated by cAMP
describe post translational control
- modifies proteins that have been synthesised
- adding non-proteins groups (lipids, carb)
- folding / shortening proteins
- modifying amino acids and bond formation (disulphide)
- modification by cAMP (lac operon cAMP binding to cAMP receptor protein t increase rate pf structural gene transcription)
body plan
general structure of an organism that is arranged in a particular way
homeobox gene
- genes containing a homeobox
- homeobox : section of DNA 180 base pairs long
- codes for part of a protein 60 amino acids long
- that is highly conserved in plants animal and fungi
- regulatory genes
- switch genes on/off
hox gene
- one group of homeobox genes
- only in animals
- responsible for correct positioning of body parts