Objectives Unit Eleven:  Genetic Regulation

1.  Define the following terms and utilize these terms in an appropriate context:
        active regulator             attenuation                    constitutive mutation
        inducer                           lac operon                     negative control
        operon model                positive control             prosttranscriptional regulation
        promoter                        repressible system      repressor
        structural gene              operator region            enhancer
        inducible system           anabolic                        catabolic

2.  Describe differentiation and relate this to the concept that all cells possess all genes
    at all times yet are not actively using them.

3.  Appreciate that a system of genetic regulation must exist if the complete genome
    is not to be continuously active in transcription.

4.  Differentiate between inducible and repressible operons, illustrated by the lac and
    trp gene complexes, respectively.

5.  Contrast the need for the enzymes involved in the metabolism of lactose and tryptophan
    in bacteria in the presence and absence of lactose and tryptophan, respectively.

6.  Contrast positive and negative control systems.

7.  Compare the normal activity and control mechanisms of genes for anabolic (synthesis)
    enzymes with those for catabolic (respiration) enzymes.

8.  Contrast the role of the represor in an inducible system and in a repressible system.

9.  Explain the occurrance of an additional regulatory mechanism, called attenuation,
    illustrated by the trp operon.

10.  Outline the genetic control mechanisms of the lac and trp operons.

11.  Outline differences between genetic regulation in prokaryotes vs. eukaryotes.

12.  Distinguish between the regulatory elements referred to as promoters and enhancers.

13.  List and define various levels of regulation in eukaryotes including posttranscriptional
    control and translational control mechanisms.

14.  Describe the impacts on regulatory mechanisms of eukaryotes when dealing with
    the properties of multicellularity, expanded genome size, and the spatial and temporal
    separation between transcription and translation.

15.  Describe the nature of chromosome puffs and lampbrush chromosomes, and relate
    them to gene activity.

Resources:  Text Chapter 15, Cartoon Guide pgs. 164-178
 

Regulation of Gene Activity-  Prokaryotes & Eukaryotes

    Basic assumption: -when dealing with regulation, not all cells need all enzymes at all times
       -all cells contain some genetic information but not all cells need and use all the info
        (cellular differentiation)
       -single celled prokaryotes need less control than multicellular eukaryotes

    Experiments in differentiation
        Totipotency- "all powerful", ultimate control. Can any cell with full genetic information
            produce a new individual?
    Are same genes present in all cells?

        Differentiation ---> past assumption: only genes specific for digestive functions will be
        found in cells of digestive system (no other genes needed, therefore, no other genes
        present)

            Different cells get different genes.

                1. Hypothesis #1- same genes present in all cells

                    -Totipotency experiments

                    Frog egg --> nucleus destroyed ---> nucleus of intest. epithelial cell injected into
                        cell ---> tadpole  ---> mature frog (sometimes)

                    **mechanism of control still unclear - don't know how to turn on all inactive genes.

                    Conclusion:  epithelial nucleus contained info to produce mature frog.

                    -Adult plant tissue
                        1. dissociated into single cells
                        2. cultured in nutrient media
                        3. produce cell mass (callus)
                        4. add hormones (growth) adult can form.

                    **differentiation due to regulation not to genes being seperated according to job.

                2. Hypothesis #2- differentiation due to different genes being active (regulated)
                        in different cells.
                    -mRNAs will only be produced by "active" genes
                    -Hybridizing experiments- create DNA/RNA hybrid to determine activity
                        A. Mouse liver cells
                            1) DNA denatured and cut (all DNA, 100%)
                            2) Add cut DNA to Nuclear mRNA (mRNA would indicate activity of gene,
                                tells how many genes are being transcribed)
                            3) 4.5% of DNA hybridize, therefore, 4.5% of genes, (DNA) are active in
                                mouse liver cells.  Other 95.5% inactive

                        B. Mouse kidney cells
                            1) DNA denatured and cut.
                            2) add cut DNA to nuclear mRNA
                            3) 4.0% of DNA hybridize, therefore, 4.0% of  DNA active 96% inactive.

                        C. Are these the same genes?

                            If no then:  DNA + Kidney mRNA + Liver mRNA  should equal 8.5%

                            If yes then:  DNA + Kidney mRNA + Liver mRNA should equal 4.5%

                            *actual findings 7.5%:   indicates there may be some genes in common
                                but most are not
                            *supports hypothesis that all DNA present but some  are "turned on"
                                others "turned off"

Regulation in Prokaryotes

Promoter- AUG (met) start, short sequence of DNA where RNA polymerasebegins
            transcription

repressor- prevents RNA polymerase from attaching to a promoter

operator- where repressor binds preventing RNA polymerase from attaching to promoter
            (called on/off switch of transcription

regulator- gene that codes for repressor, seperate from gene it regulates

structural gene- one to several genes that are transcribed as a unit, determine structure
            of proteins.

Operon Model

    A. Lac Operon  Jacob and Monod 1961
        -experiments show E. coli capable of regulating genes necessary for lactose
            metabolism
        *genes for proteins that function together should be controlled together

        *metabolic pathways require numerous enzymes (proteins) in roughly equal amounts
        *one mechanism that allows coordination of a group of functionally regulated genes
            would be to group them so they can be regulated together

        - E. coli ordinarily uses glucose, because E. coli uses glucose, lac operon usually
            turned off! (therefore, operator repressed)
 

               promoter             lac z      lac y      lac a
DNA----------------------------------------------------------------
       r                    o+
 

repressor- acts on operator gene to turn operator off, prevents RNA poly  from working

lac z- codes for B galactosidase (breaks down lactose)

lac y- codes for enzyme that takes lactose into cell

lac a- utilization of lactose function still unclear
 

When lactose present:

                                  lac z      lac y      lac a
DNA-----------------------------------------------------------------
        r                  o+

repressor + lactose (produces inactive repressor)

Operon induced ans allowed to function (RNA polymerase can read message)
 

Negative control of lac Operon
    -operon turned on unless something intervenes to stop it (turn it off)

        *when lactose present operon is on, repressor can't repress

Positive control- operon turned off until something intervenes to turn it on.

            Negative control- brakes of car
            Positive control- ignition switch

            *removing repressor from operator (releasing brake) is not enough to turn of the
                operon.  Positive factor, turning on ignition, is also needed.

            *mutant regulator- cannot produce functional repressor therefore, pathway can't stop

            oc- constitutive operator- repressor can't attach therefore, can't turn system off

            oo- mutant regulator- combines irreversibly w/repressor, therefore, genes can't be
                turned on

        Genes for enzymes of synthetic or anabolic pathways are controlled by repression
            (negative control).  They are turned on all the time except when specifically repressed
           Tryp operon- repressed by presence of tryp

        Genes for enzymes of catabolic (respiration and energy release) pathways are
            inducible.  They are normally turned off except when specifically induced to turn on
            (positive control)
            lac Operon- induced in presence of lactose

Regulation in eukaryotes  Pg. 314-321

    1.  Transcriptional control- involves organization of chromatin and use of regulatory genes.

            A. Organization of chromatin
                    Heterochromatin- highly condensed (before mitosis)

                    Euchromatin- diffuse (interphase)

                    -histones are basic proteins, synthesized in nucleolus, become complexed
                        w/DNA to form coiled chromatin.

                    -histone complexed DNA cannot transcribe to mRNA, therefore, it is genetically
                        inactive

            Evidence
                Barr Bodies- one of the X chromosomes in females is condensed and inactive.

                Polytene Chromosomes- genetically inactive (euchromatin)

                Chromosome puffs- gene regions, actively synthesized mRNA, hormone induced
                    *prokaryotes- no histone

    2. Post-transcriptional Control
            -differential mRNA processing, effects size of mRNA, therefore, time it takes to leave
                nucleus and in effect, the time it takes to make a protein.

    3. Translational control-  dependent on the life expectancy of mRNA (can vary)
            -causes stock pile of mRNA, when time is right there will be a large burst of
                translation and protein production.

    4. Post-translational Control- effects activity of protein produced

        -occasionally other alternatives are necessary
        -feed back mechanisms
 
 

Cancer- Failure of Genetic Control

    *exhibit uncontrolled and disorganized growth

    Tumor- growth of cells that invades and destroys neighboring tissues

        - fail to differentiate into organ cells and never help  function or organ (heart, lung . . .)

    Vascularization- growth of blood vessels into cancerous tissues supplying nutrients
        and O2

    *cancer cells break away from tumor and spread throughout body

       Metastasis- tumor cells begin growth in other parts of body

        Benign Tumor- prior to metastasis (non cancerous), basis for early detection
            programs

        Malignant tumor- tumors that have metastasized
 

Causes- Mutagens (mutagens/carcinogens)
                Carcinogens- mutagenic agents which cause changes in DNA

            1st step in development ---> Initiation

                Radiation- breaks, disruption of DNA bonding patterns

                Chemicals- base sequence changes

            2nd step in development ---> Promotion

                any influence that triggers cell to divide uncontrollably(either a second change in DNA or cumulative
                effects of DNA changes)
 

*Oncogenes (onco= cancer)

    -mutated versions of normal (proto-oncogenes) genes already  incorporated into DNA

    -mutated version turns on gene normally turned off

    -mutation leads to greater expression of the gene or to  inappropriate expression of gene
    -proto-oncogene induced structurally by crossing over placing inactive structural gene next to active promoter

    -proto-oncogene induced by the introduction of its oncogene by a virus

    -Cancer develops if immune system fails to attack the cancerous cell.

    **active area of research

    -may be genetic basis for some cancers which would predispose individuals to develop cancer

Tp53 genes-  p53 proteins:  Tumor supressor genes  The "anti" oncogene
 

Father- smoker w/ lung cancer                 Smoker- cancer

       -offspring may inherit gene
 

Mother- non-smoker                             Healthy- no cancer
 

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