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OCR Biology A - 6.1.1 - Cellular Control

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The genetic code is universal, meaning the same codons specify the same amino acids in almost all organisms. It is a triplet code, where each codon of three bases codes for one amino acid.

Characteristics of genetic code

Universal

Triplet code

Degenerate

Non-overlapping

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Key Terms

Term
Definition

Characteristics of genetic code

Universal

Triplet code

Degenerate

Non-overlapping

Properties of DNA

Introns

Exons

Introns

Sections of DNA that do not code for a polypeptide

Regulatory sequences

Acts as a buffer for mutations

Regulatory sequences

Promoter regions

Terminator regions

Operator regions (prokaryotes)

Exons

Sections of DNA that code for polypeptides

Regulatory or structural genes

Regulatory genes

Genes that code for proteins used in DNA regulation

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TermDefinition

Characteristics of genetic code

Universal

Triplet code

Degenerate

Non-overlapping

Properties of DNA

Introns

Exons

Introns

Sections of DNA that do not code for a polypeptide

Regulatory sequences

Acts as a buffer for mutations

Regulatory sequences

Promoter regions

Terminator regions

Operator regions (prokaryotes)

Exons

Sections of DNA that code for polypeptides

Regulatory or structural genes

Regulatory genes

Genes that code for proteins used in DNA regulation

Structural genes

Genes that code for regular proteins

Mutagens

Chemical, physical, or biological agents which cause mutations e.g. viruses (viral DNA inserts itself into the genome), radiation (Breaks one or both DNA strands)

Where can genes be turned on or off

Transcriptional

Post-transcriptional

Translational

Post-translational

When does up/down regulation occur

Post trasncriptional

Translational

Post translational

Either increases/ decreases rate of protein synthesis

When are proteins modified

Translational

Post translational

Where are ribosomes assembled

Nucleolus

Why is there a ribosomal groove

So mRNA can be read for transcription

Types of mutations

Genes

Chromosomal

Point mutations

Mutations that occur at a spp point

Insertion

Substitution

Deletion

Effects of point mutations of proteins

Silent

Missense

Nonsense

Insertion mutations

Addn. of one or more nucleotide base pairs into a DNA sequence

Substitution mutation

Occurs when a base pair is substituted for another

Deletion mutation

Occurs when a base pair is deleted from the DNA sequence

Frameshift

A mutation caused by the addn. or deln. of a base pair(s) resulting in the translation of the genetic code from an unnatural reading frame from the point mutation to the end of the gene

Silent mutations

Change in the DNA sequence that results to the change in nucleotide base pairs having no subsequent effect on on the amino acid produced

May have occurrred in introns

Missense mutations

A single nucleotide change leads to a different codon and therefore a different AA

Nonsense mutations

Change in nucleotide sequence that leads to one of codons being converted to a terminator codon so the protein produced is truncated

Class of mutations

Beneficial - depends on environment

Neutral - No effect on chances of survival

Disadvantageous - Causes genetic diseases, lessens chances of survival

Histones

Basic proteins that associate w/ DNA in the nucleus and help to condense the DNA into a smaller volume

Little balls in which DNA wraps around

Chromatin

Complex of DNA and proteins that condense to form chromosomes within the nucleus of eukaryotic cells

Euchromatin

Lightly packaged DNA; RNA polymerase can access the bases to transcribe the genes --> genes can be turned on

Heterochromatin

Tightly packaged DNA; RNA polymerase cannot access the bases to transcribe the genes so they are turned off

Promoter regions

Region of DNA that acts as the binding site for RNA polymerase to start transcription

Intron

Usually upstream

Operator regions

Short region of DNA that is close to the promoter region

| Interacts w/ regulatory proteins that controls the transcription of operons

Downstream

To the right

Upstream

To the left

Operon

Functioning unit of DNA containing a group of structural genes expressed together

Controlled by one promoter

Only found in prokaryotes

How is gene expression regulated in operons

Transcription factors bind

Transcription factors

Coded for by regulatory genes

Proteins which affects rate of transcription

Activates or inhibits transcription of DNA by binding to promoter region w/ RNA polymerase or blocking the promoter region

Repressor protein

A protein that binds to DNA/RNA inhibiting transcription by binding to the operator

Gene expression

Production of proteins from a genome

Control of gene expression

Whether genes are turned on or off

Why is the control of gene expression necessary

In specialisation and differentiation of cells

Increasing/ decreasing complexity

Prevent vital resources being wasted

Why is gene expression more complex on eukaryotes

Have to respond to changes in the internal and external environments

Histones - DNA not exposed, genes expression is harder

Prokaryotes don't have histones

Housekeeping genes

Genes that code for proteins which are necessary for reactions in metabolic pathways and are constantly required (enzymes)

Who has only exons

Prokaryotes and eukaryotes without jaw bones

| Jaw boned eukaryotes have introns and exons

Terminator region

Does not code for protein

Regulatory site

RNA polymerase is released to stop trancription

RNA-coding sequence

Genes turn into mRNA

| Has both introns and exons but introns are removed from premature mRNA during splicing to form mature mRNA

Methods to regulate gene expression at transcriptional level

Histone modification

| Transcription factors

Histone modification

Histones are +vely charged and DNA. -vely charged --> attraction

Modify charges to change degree of packaging

Acetylation and phosphorylation reduce +ve charge so transcription happens

Methylation increase +ve charge so transcription doesn't occur

Transcription factors as a method of gene expression

Control rate of transcription by binding to spp DNA sequences

Regulate genes to make sure they are expressed correctly

Work alone or w/ others as an activator or repressor of RNA polymerase

Regulating gene expression at the post transcriptional level

RNA processing

RNA editing

siRNA

Happens simultaneously

RNA processing

Pre-mRNA is modified --> mature-mRN A binds to ribosme and code for synthesis

Adenine cap is added at 5' and tail at 3'

Stabilises mRNA and delays degradation in cytoplasm, aids binding

Splicing and the addn. of adenine cap and tail occur in the nucleus

RNA editing

Some mRNA can be changed through base pair add., deln. or subn. Same effects as point mutations and results in synthesis of diff proteins w/ diff function s

Increases range of proteins that can be produced from one mRNA strand

Regulating gene expression at the translational level

Degradation of mRNA

Binding of inhibitory proteins

Protein kinases

Degradation of mRNA

More resilient the molecule, the longer it lasts in cytoplasm, more translation

Binding of inhibitory proteins

Occurs when protein is produced in wrong location or substrate is not available

Regulation of gene expression at the post translational level

Protein activation - allows protein to carry out its function

Protein activation

Occurs in Golgi

Adding non protein groups e.g. carbs, phosphates

Phosphorylation by protein kinases and ATP

Folding/ shortening proteins (2' structure)

Modification by cAMP

Control sites

Operator region and promoter region

Beta galactoside

An enzyme that catalyses the hydrolysis of lactose to glucose and galactose

Lactose permease

A protein that transports lactose into the cell

Lac i

Regulatory gene

Codes for repressor protein (transcription factor)

Always transcribed

Lac p

Promoter region

| Rna polymerase binds here

Lac o

Operator region of control site

Repressor protein binds here

When lactose is present causes a conformational change in repressor protein allowing it to bind to lactose instead

Lac z

Structural gene codes for beta galactoside

Lac y

Structural gene that codes for lactose permease

Lac operon

Inducible operon (only occurs when lactose is present from diffusion through lactose channels )

Example of transcriptional regulation

Group of 3 genes involved in metabolism of lactose

Mechanism of apoptosis

Cytoskeleton broken down by enzymes, loses function

Cell shrinks and the membrane blebs, chromatin condenses

Lysosomes release enzymes which break down cell components

Cell breaks up into membrane-bound fragments

Cell fragments are ingested and digested by phagocytic cells

Uses of apoptosis

Morphogenesis - eliminating excess cells (webbed fingers)

Selection - eliminates non functional cells

Immunity - T killer eliminates dangerous cells (cancer)

Organ size - eliminates excess cells

Tissue remodelling - eliminates cells no longer need (breastfeeding)

Somatic cell

Body cell

Germ line cells

Gametes

Germline mutations

Mutations in gametes so can cause genetic diseases and are passed on

Somatic mutations

Not inherited but can cause ageing and cancer

| Result of mutations in normal diploid cells

Homeobox genes

Regulatory genes that contain a homeobox sequence (180 bp)

Highly conserved in animals, plants and fungi

Regulates mitosis and apoptosis in the embryonic stage

Control body plans of an organism

Homeotic genes

Set of genes that control morphology

Homeodomain

Section of the protein coded for by the homeobox sequence (60 AA)

Hox genes

Sub type of homeobox genes

Only found in vertebrates and animals

Found in clusters on chromosomes

Controls body plans and morphology

What do Hox genes code for

A group of TF's that controls expression of structural genes associated w/ the development of an organism's appendages during its embryonic stage to form a mature body plan

What does a mutation of a Hox gene lead to

Diff body plan

What ensures features are expressed correctly

Hox genes in a Hox cluster are activated in a particular order depending on where its found on the chromosome

This matches order genes are expressed along H to T

So structural genes are activated in a carefully coordinated sequence

Why are Hox genes highly conserved

V. important

Mutations alter body plans

Mutations are selected against

Polypeptides that control the physical development of an organism

Structural proteins

Enzymes used in metabolic pathways

Hormones

Receptor proteins

Protein kinases

Activated by cyclic AMP and activate proteins through phosphorylation using ATP

siRNA

Small interfering RNA - only needed when cell has made sufficient protein

Complementary base sequence to mRNA that's to be degraded

Binds to mRNA and activates an enzyme that breaks it down

RNA nucleotides recycled to nucleus