ESSENTIALS Flashcards

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1
Q

General characteristics of living system

A

1) Determined in space & time
2) Genetic & structural unity, hierarchical organization
3) Reproduction
4) Open thermodynamical systems (reduction of entropy); flow of matter, energy & information
5) Metabolism
6) Autoregulation: feedback system
7) Reactivity to external stimuli
8) Ontogeny
9) Phylogeny (evolution)

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2
Q

Why do viruses need a host?

A

No organelles:

  • Can’t make ATP
  • Can’t reproduce
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3
Q

Stages of viral replication

A
Attachment
Penetration
Synthesis of NA & proteins
Maturation
Release
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4
Q

People involved with modern cell theory (6)

A
Hooke
Leeuwenhoek
de Mirbel
Lamarack
Schwann, Schleiden
Virchow
Purkyne
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5
Q

Modern cell theory (6)

A

1) All know things are made up of cells
2) Cell = structural & functional unit of living things
3) Cells come from pre-existing cells
4) Cells are basically same in chemical composition
5) Cell contain hereditary information
6) All energy flow of life occurs within cells

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6
Q

Cell organelle

A

Compartments limited by membrane

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7
Q

“Cell” Hierarchy

A
Molecule
Macromolecule
Supramolecular complex
Cell organelle
Cell
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8
Q

Nucleus includes…

A

Nuclear pores
Nuclear lamina
Nuclear matrix
Nucleoplasm

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9
Q

Types of vesicles (GA)

A

Exocytotic v. (constitutive secretion)
Secretory v. (regulated secretion)
Lysosomal v.

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10
Q

Function of vacuoles

A
Maintain turgor pressure
Maintain acidic internal pH
Enable change shape of cell
Remove unwanted substances
Isolate harmful materials
Push contents against cell membrane; chloroplasts closer to light
Role in autophagy
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11
Q

Autophagy

A

Destruction of invading bacteria

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12
Q

Holism

A

System as a whole determines how the parts behave

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13
Q

Hypercycle

A

Organisation of self-replicating molecules connected in a cyclic manner

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14
Q

Capsomeres

A

Identical protein subunits that form capsid

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15
Q

Types of penetration (virus)

A

TRANSFER viral particle
TRANSFER viral genome
FUSION viral envelope

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16
Q

Proteases

A

Perform proteolysis

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17
Q

Gene Expression in Viruses:

ds(+/-)DNA

A

Bacteriophages

Animal viruses

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18
Q

Gene Expression in Viruses:

ss(+RNA)

A

Retroviruses
OR
Bacteriophages
Animal/plant viruses

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19
Q

Gene Expression in Viruses:

ss(-)RNA

A

Bacteriophages

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20
Q

Transformation

A

A bacterium takes up a piece of DNA floating in its environment

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21
Q

Transduction

A

DNA is accidentally moved from 1 bacterium to another by a virus

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22
Q

Conjugation

A

DNA is transferred between bacteria through a pilus

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23
Q

Fertility factors

A

Chunk of DNA that codes for proteins that make up pilus

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24
Q

Binary fission vs Mitosis PURPOSE

A

M: Cause organism to grow larger or replace old, worn-out cells with new ones
BF: How bacteria reproduce or add more bacteria to the population

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25
Q

Cytoplasm vs Cytosol

A

Cytosol: Fluid between organelles
Cytoplasm: Everything that’s inside the cell (cytosol + organelles)

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26
Q

Endomembrane system

A

All of the membranes that interact with each other inside of the cell

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27
Q

Phagocytosis (lysosome)

A

A section of macrophage’s plasma membrane invaginate, fold inward to engulf a pathogen
Invaginated section pinch off to form a phagosome
Phagosome then fuse with a lysosome, where digestive enzymes destroy the pathogen

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28
Q

Eukaryotic & Prokaryotic similarities

A

Vacuoles & vesicles

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29
Q

sER function

A

Synthesize steroid hormones & other lipids
Connects rER & GA
Detoxify cell
Carbohydrate metabolism

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30
Q

Plastids

A

Site of production & storage of important chemical compunds

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31
Q

Anthocyanines

A

Plant pigments present in vacuoles

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32
Q

Division of bacteria

A

Shape
Degree of flagellation
Cell Wall Composition

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33
Q

Domain Bacteria

A
Unicellular
Most have CW; murein 
NO introns
Often organized into operons
May contain plasmids 
N-formylmethionin (starting AA)
Asexual reproduction = BF/budding
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34
Q

Plasmid

A

Small, round extrachromosomal DNA that MAY contain genes for antibiotic resistance

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35
Q

Domain Archaea

A
Unicellular
CW; pseudomurein
Introns
Methionine (starting AA)
Asexual reproduction = BF/budding
20% of biomass
Extremophiles
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36
Q

Groups of extremophiles

A

Halophiles (high salt conc.)
Thermophiles (high temp.)
Methanogens ( convert CO2+CO ->CH4)

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37
Q

Function of water

A

Essential to all known forms of life
Participation in chem. reactions (fill intra+intercellular spaces, provides H+)
Solvent for nutrients
Transport
Thermoregulation (maintain constant temp.)
Homeostasis (acidobasic eq., osmoregulation)

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38
Q

Function of proteins

A
Structure
Enzyme catalysis
Informative (signals, receptors)
Regulation (hormones, messenger)
Defense (antibodies, globular proteins)
Transport (hemoglobin, transport O)
Motion (actin)
Source of energy
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39
Q

Function of lipids

A

Energy storage (lots of cal.)
Absorption of vitamins
Hormones
Structure (membrane, micelles)

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40
Q

Group of steroids of lipids

A

Cholesterol
Hormones
Vitamin D

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41
Q

Fluidity is influenced by

A

Temperature
Presence of cholesterol
Length & saturation of fatty acids

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42
Q

Function of membranes

A
Barrier
Cell shape
Form tissues & compartments (organelles)
Regulation of transport of substances
Contains receptors of chem. messages
Enzyme activity
Transformation of energy
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43
Q

Cell cortex function INNER FACE

A

Mechanical support

Cell-surface movements (animal cells)

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44
Q

Glycocalyx function OUTER FACE

A
Protects membrane from injury
Cell adhesion (bind cells together)
Fertilisation
Embryonic development
Immunity to infection
Transplant compatibility
Defense against cancer
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45
Q

Extracellular matrix function

Bound to cell membrane by integrins

A

Anchorage for cells

Regulation of intercellular communication

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46
Q

Cell wall function

A

Protection
Filtering mechanism
Prevents over expansion (hyptonic)

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47
Q

Ion channels importance

A
Electrical impulse (generation&conduction)
Fluid balance (within & across cell mem.)
Signal transduction (within & among cells)
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48
Q

Exocytosis, when?

A
Acrosome reaction (fertilisation)
Antigen presentation (immune response)
Cellular signalling (electrical to chem. signal)
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49
Q

Primary protein structure

A

Linear sequence of AA’s

Formed by covalent PB

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50
Q

Secondary protein structure

A

Linear sequence of AA’s folds upon itself
Determined by backbone interactions
H-bonds

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51
Q

Tertiary protein structure

A

Higher order of folding within a polypeptide chain (3D shape)
Depend on distant group interaction
H-bonds, v.d.Walls forces, disulphide bridge, hydrophobic interactions

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52
Q

Quaternary protein structure

A

Bonding between multiple polypeptide chain (subunit interactions)

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53
Q

Hydrolysis of ATP

A

Chemical energy is changed into mechanical energy AS energy stored in high energy bonds in ATPare released

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54
Q

SNARES

A

Protein that mediate vesicle fusion

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55
Q

Spectrin (cytoskeletal protein)

A

Line inner side of plasma membrane (EUK)

Maintain PM integrity & cytoskeletal structure

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56
Q

Integrin

A

Transmembrane receptors

Bind to extracellular matrix

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57
Q

Primary active transport

A

Energy is derived directly from breakdown of ATP

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58
Q

Secondary active transport

A

Use energy stored in gradients to move other substances against their own gradients

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59
Q

Cytoskeleton function

A

Allow change of shape of cell
Move organelles
Moving from place to place

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60
Q

Intermediate filaments function

A

Provide cell shape
Anchor organelles
Keep nucleus in place

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61
Q

Dynamic instability

A

Periods of rapid microtubule polymerization alternate with periods of shrinkage

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62
Q

Polymerization

A

Some small molecules can join together to make very long molecules called polymers.

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63
Q

Function of Actin Filaments

A

Structural (prject from cell, polymeration of actin in acrosome)
Movement
Mitosis ( contractile ring)

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64
Q

Function of microtubules

A

Maintain cell shape, anchor organelles
Movement
Mitosis (spindle)

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65
Q

Microtubules organizing centers

A

Mitotic spindle
Centrosome
Basal body

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66
Q

Types of motor movement

A

Cytoskeletal structure is fixed
Sliding
Motor is fixed

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67
Q

Intracellular transport

A

Transport of secretory vesicles by (K,D) along microtubules highway

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68
Q

Flagella & cilia structure

A

Basal body
Axoneme (9+2, radial spokes)
Dynein

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69
Q

Flagella & cilia function

A

Move things along surface

Used in locomotion

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70
Q

What makes up bacterial flagellum

A

Hollow filament of protein flagellin
Sharp hook
Basal body rings

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71
Q

Amoeboid movement principle

A

1) Protrusion of a pseudopodium
2) Pseudopodium is attached (integrin)
3) Rest of cell body is pulled
+ Actin polymerise, Myosin I bind to actin -> network contracts pulling cell in direction of pseudopodium (E from ATP)

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72
Q

Prophase (3)

A

Mitotic spindle is formed

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73
Q

Prometaphase (3)

A

Kinetochore MT bind at Kinetochore (dynein)

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74
Q

Metaphse (3)

A

Chromosomes line up

By polymeration/depolymeration of K MT

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75
Q

Anaphase (3)

A

Dynein pulls chromatids to opposite poles

Polar MT slide (kinesin) + polymerate at (+) end

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76
Q

Telophase

A

Kinetochore MT disappear

Polar MT still polymerate

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77
Q

Cytokinesis (Animal Cell)

A

Cleavage process
Formation of contractile ring
Actin filaments slide (by help of myosin II)

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78
Q

Cytokinesis (plant cell)

A

Vesicles from GA move along MT to middle of cell & fuse

Produce cell plate

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79
Q

Centrosome

A

Main MT organising center of animal cell

Regulator of cell cycle

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80
Q

Depolymerization

A

To break down (a polymer) into monomers.

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81
Q

Cell Cycle;

A

Replication of chromosomes (DNA) & cell growth
Separation of chromosomes
Cell division

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82
Q

G1 Checkpoint;

A

Cell size
Nutrients
Growth factors
DNA damage

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83
Q

G2 Checkpoint

A

DNA damage

DNA replication completeness (from S phase)

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84
Q

M checkpoint

A

Chromosome attachment to spindle at metaphase plate

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85
Q

Proteasome

A

Protein complexes that degrade unneeded damaged proteins by proteolysis

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86
Q

Proteolysis

A

Chemical reaction that breaks peptide bonds

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87
Q

Cyclins

A

Group of related proteins
Help drive events at certain “phase”
Increase levels at stage where it is needed

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88
Q

Cdks

A

Inactive enzyme
Activates by binding of cyclin
P group act like switch ->make target protein less/more active

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89
Q

Kinase

A

Enzymes that add phosphate group to other molecules

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90
Q

APC

A

Add Ub tag to securin
Securin is sent for recycling
Separase becomes active
Separase chops up cohesion that holds sister chromatids together -> allow them to separate

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91
Q

Synapsis

A

Fusion of chromosome pairs (zygotene)

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92
Q

Synaptonemal complex

A

Holds together homologous chromosomes

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93
Q

Crossing over

A

Exchange of genetic material (pachytene)

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94
Q

Proliferation

A

Increase in number of cells

Balance between cell divisions & cell loss (through death/differentiation)

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95
Q

Proliferation “steps”

A

Growth factors
Receptors
Signalling molecules
Transcription factors

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96
Q

Leptotene

A

Chromosomes begin to condense

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97
Q

Zygotene

A

Homologous chromosomes combineto form bivalent

Form synaptonemal complex (by synapsis)

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98
Q

Pachytene

A

Crossing over: random exchange -> recombination of genetic information

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99
Q

Diplotene

A

Synaptonemal complex degrades
Homologous chromosomes separate a little
Remain tightly bound at chiasmata (HC of bivalent)

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100
Q

Diakinesis

A

Nucleolus disappears
Nuclear membrane disintegrates
Mitotic spindle begins to form

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101
Q

Metaphase I

A

HC align

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102
Q

Anaphase I

A

K MT shorten & pull HC to opposite poles
Random segregation of chromosome - recombination
NonK MT lengthen -> cell elongates

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103
Q

Telophase I

A
Half number of chromosomes each consisting of a pair of chromatids
MT disappear
New nuclear membrane 
Chromosomes uncoil into chromatin
Cytokinesis
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104
Q

Prophase II

A

Nucleoli + nuclear envelope disappear

Centromeres move to poles & arrange MT

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105
Q

Metaphase II

A

C align

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106
Q

Anaphase II

A

Centromeres are cleaved
MT pull sister chromatids apart
Sister chromatids = sister chromosomes

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107
Q

Telophase II

A

Uncoiling & lengthening of C
MT disappear
Formation of nuclear envelopes
Cytokinesis

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108
Q

Significance of meiosis

A

Facilitates stable sexual reproduction

Produce genetic variety in gametes

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109
Q
Apoptosis triggers: 
Internal signals (intrinsic pathway)
A

Oxidative damage (cause holes in mit. mem.)
Entry of CYTOCHROME C into cytoplasm
Caspase 9 -> 3 -> 7
Proteolytic cascade

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110
Q

Apoptosis triggers:
External signals (extrinsic pathway)
Tumor necrosis factor

A

TNF bind to cell mem. receptors
Caspase 8
Proteolytic cascade

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111
Q

Apoptosis triggers:

Apoptosis-inducing factor (AIF)

A

CASPASE INDEPENDENT PROCESS
Mitochondria release AIF
Migrate to nucleus
Bind to DNA -> trigger DNA degradation + cell death

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112
Q

Function of polysaccharides

A
Source to power chemical reactions
Long-term energy storage
Structure
Part of mucus, slime, cartilage
Part of glycoproteins, glycolipids
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113
Q

Thermodynamical law 1:

A

Law of conservation of energy
Energy cannot be created/destroyed in an isolated system
Only transformed from 1 form to another

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114
Q

Thermodynamical law 2:

A

Entropy of any isolated system increase over time

living organisms have very low entropy

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115
Q

How cells obtain energy from food:

Stage 1

A

Breakdown of large macromolecules to simple subunits

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116
Q

How cells obtain energy from food:

Stage 2

A

Breakdown of simple subunits to acetyl CoA accompanied by production of limited ATP & NADH

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117
Q

How cells obtain energy from food:

Stage 3

A

Complete oxidation of energy of acetyl CoA to H2O & CO2 involves production of much NADH, which yields much ATP via ETC

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118
Q

NADH

A

Crucial coenzyme in making ATP
Acts as a shuttle for electrons during cellular respiration. At various chemical reactions, the NAD+ picks up an electron from glucose, at which point it becomes NADH.

119
Q

ETC proton pumps

A

NADH-dehydrogenase complex
Cytochrome b-c1 complex
Cytochrome oxidase complex

120
Q

Glycolysis

A

Glucose undergoes chemical transformation & is converted into 2 molecules of pyruvate

121
Q

Pyruvate oxidation

A

Each pyruvate goes into matrix

Bind to coenzyme A to form Acetyl CoA

122
Q

Krebs Cycle

A

Acetyl CoA + 4C -> 6C intermediate which is broken down to reform 4C compund

123
Q

ETC + Oxidative phosphorylation

A

Hydrogen carriers pass e to ETC
e lose E as they move through chain which is used to pump H ions from matrix to IMS against conc. graient
Protons return to matrix via ATP synthetase, releasing E which is used to produce ATP

124
Q

Light dependent reactions

A

Light E is used to produce ATP & to split up water into hydrogen & oxygen

125
Q

Light independent reactions

A

ATP & hydrogen are used to fix carbon molecules to make organic compounds

126
Q

Calvin Cycle Steps

A

1) Carbon fixation
2) Reduction
3) Regeneration of RuBP

127
Q

Carbon fixation

A

The Calvin cycle uses the energy from short-lived electronically excited carriers to convert carbon dioxide and water into organic compounds that can be used by the organism (and by animals that feed on it).

128
Q

Cell signalling mediates

A

Reaction to signals from environment
Communication between cells
Teamwork of cells in multicellular organism

129
Q

Stage of cell signalling

A

1) Reception
2) Transduction
3) Response

130
Q

Cell signal pathway

A

Signal cells
Signal molecules
Receptors
Target cells

131
Q

Chemical extracellular signals

A

Hormones
Neurotransmitters
Neurohormones
Cytokins

132
Q

Cytokins

A

Proteins produced by cell as a signal for proliferation, differentiation or survival of cells

133
Q

Paracrine signalling

A

Cells communicate over relatively short distances

“Talk to neighbor”

134
Q

Autocrine signalling

A

Cell signals to itself

Development - reinforce identities

135
Q

Endocrine signalling

A

When cell need to transmit signals over long distances

Travel through circulation, hormones

136
Q

Contact-dependent

A

Gap junctions -> tiny channels that directly contact neighbouring cells
Small signalling molecules diffuse between cells

137
Q

Neuronal signalling

A

Nerve cell transmits signal

138
Q

Cell Signalling STEPS

A

1) Ligand bind to GPCR
2) GPCR - conformation change
3) a subunit exchange GDP for GTP
4) a subunit dissociates & regulate target proteins function
5) Target proteins relay signal via 2nd messenger
6) GTP is hydrolysed to GDP, ligand leave

139
Q

Enzymatic function of Receptor Kinase Tyrosine

A

Transfer P molecules to intracellular proteins (tyrosine)

140
Q

Imporance of RTK

A

Regulate cell growth, differentiation & survival

Can bind & respond to ligands (like growth factors)

141
Q

Protein kinases

A

Act on proteins by phosphorylating them (can modify function of protein in many ways)

142
Q

People involved with “gene”

A
Mendel (discreet elements)
Johanssen (gene)
Morgan (locus)
Beagle, Tatum
Watson, Crick
143
Q

Structure of a gene

A

Coding strand, template strand
Promoter
Coding regions for protein/RNA
Enhancer = regulatory sequence (regulate promoter)

144
Q

premRNA - mRNA Steps

A

1) Addition (synthesis) of 5’ cap to beginning of RNA
2) Removing introns & splicing exons
3) Addition (synthesis) of 3’ poly(A)tail

145
Q

prerRNA - rRNA

A

1) Separation of pre-rRNA (by snRNA)

2) Formation of large subunit of ribosome

146
Q

pretRNA - tRNA

A

1) Cleavage (remove extra segment at 5’)
2) Splicing (remove intron in anticodon loop)
3) Addition of CCCA (at 3’)
4) Base modification

147
Q

Svedberg coefficient

A

Relative size of particle by rate of sedimentation

148
Q

post(co)- translation modification;

Primary structure

A

Proteolytic cleavage
Phosphorylation
Functional groups
Disulphide bridge

149
Q

Why RNAi?

A

Can shut down genes in cell to identify components necessary for particular cellular process

150
Q

Transcription - initiation key words

A

RNA polymerase + sigma factor
Separate
Synthesis at initiation site
By rules of bp

151
Q

Transcription - elongation key words

A

5-3 direction

Base U instead of T

152
Q

Transcription - termination key words

A
Terminators
Hairpin loop
C & G, folds
Polymerase stall
Weak interaction
Instability for enzyme to fall off
153
Q

Transcription - termination key words (BACTERIA)

A

Rho
Climb up
Rho pulls apart
End transcription

154
Q

tRNA Binding Sites functions

A

A: bind next-coming tRNA with an AA
P: bind tRNA with growing polypeptide
E: bind deacylated tRNA prior to its release

155
Q

Genetic code

A

Full set of relationships between codons & AA’s
Universal
Used for protein synthesis

156
Q

Translation - initiation

Ingredients + key words

A

Ingredients: a ribosome, mRNA, initiator tRNA
Initiator tRNA -> small subunit
Walk along mRNA -> Start codon
Large subunit -> P site

157
Q

Translation - elongation key words

A
Peptide bond (by ribozyme)
tRNAs through A, P, E
158
Q

Translation - termination key words

A

Stop codon -> enters A site

Protein released

159
Q

Eukaryotic gene expression

A

1) Chromatin accessibility
2) Transcription
3) RNA processing
4) RNA stability
5) Translation
6) Protein activity

160
Q

lac Repressor

A

Protein that represses transcription of lac operon by binding to operator which partially overlaps with promoter

161
Q

Homebox genes vs homeobox vs hox genes

A

Homeobox genes: direct development of particular body segments/structure, regulates transcription
Homeobox: DNA sequence within homeobox genes
Hox genes: subset of homeobox genes

162
Q

Ubiquitination

A

Regulated degradation of proteins in the cell (ATP)

163
Q

Ubiquitination steps

A

1) E1 activate ubiquitin
2) E2 add ubiquitin to substrate
3) E3 (ub. ligase) add 3 other ubiguitins to substrate

164
Q

Ubiquitins & SUMO proteins

A

Ubiquitin: Small protein (76AA) used to target proteins for destruction
SUMP Proteins: Compete for binding sites w/ Ub, do not lead to their degradation

165
Q

Central dogma

A

Transcription + translation

How genetic info flows from a DNA sequence to a protein product inside cells

166
Q

Phosphodiester bond

A

Links 2 nucleotides between a phosphate group

167
Q

Glycosidic bond

A

Bounds bases to sugar

168
Q

DNA people

A

Franklin
Wilkins
Watson
Crick

169
Q

DNA Structures

A

1) Sequence of bases in NA chain
2) dsDNA/RNA
3) DNA is organized into chromosome

170
Q

Condensation of DNA into Chromosomes STEPS

A

1) Nucleosome
2) Chromatin fiber
3) Loops of fibers
4) Mitotic chromosomes

171
Q

Topoisomerase

A

Enzyme that catalyses uncoiling of DNA

172
Q

DNA Replication Steps + Key Enzymes

A

1) Initiation, Helicase (create rep. fork)
2) Priming, RNA Primase
3) Elongation, DNA Polymerase III
4) Termination, DNA Polymerase I + DNA ligase

173
Q

DNA Mismatch Pair

A

1) Detection
2) DNA strand is cut out, mispaired nucleotide + neighbours are removed
3) DNA polymerase replace missing patch
4) DNA ligase seals gap in DNA backbone

174
Q

Base Excision Pair

A

1) Deamination converts C -> U
2) U is detected & removed
3) Base-less nucleotide is removed
4) Hole is filled w/ right base by DNA polymerase, gap is sealed by DNA ligase

175
Q

Pyrimidine Dimers

A

1) UV radiation produce thymine dimer
2) Detection, surrounding DNA opened & form bubble
3) Enzymes cut damaged region out of bubble
4) DNA polymerase replaces cut-out DNA & DNA ligase seals gap

176
Q

DNA Replication - Initiation

A

DNA strands are unwound & cut out

177
Q

DNA Replication - Priming

A

RNA primers are added to act as initiation points for DNA synthesis

178
Q

DNA Replication - Elongation

A

New complementary DNA strands are synthesized in a 5’-3’ direction

179
Q

DNA Replication - Termination

A

Primers replaced & fragments joined

180
Q

Leading strand

A

Polymerase moving towards replication fork (can copy continuously)

181
Q

Lagging strand

A

Polymerase moving away from replication fork (copes in short fragments; okazaki)

182
Q

Transposons

A

“Copy & paste”
Cut out of its location & inserted into a new one
Requires enzyme - transposase

183
Q

Retrotransposons

A

“Copy & paste”
BUT copy is made from RNA NOT DNA
RNA copies are then transcribed back to DNA (reverse transcriptase) -> inserted into new location in genome

184
Q

Bacterial Transposons

A

Conservative Transposition

Replicative transposition

185
Q

Eukaryotic Transposons

A
Class 1: DNA Transposons
VSG genes, P elements, McClintok Elements
Class 2: Retrotransposons
LINEs 
SINEs
186
Q

Repetitive sequence in eukaryotes DNA

A

Patterns of NA (DNA/RNA) that occur in multiple copies throughout the genome

187
Q

Micro vs Minisatellites

A

Micros: 2-6bp -> 10-100x, nuclear+organellar DNA, polymorphic, used as molecular markers
Minis: 10-100bp, 1000locations

188
Q

Molecular marker

A

Fragment of DNA associated with location in genome

Identify particular sequence of DNA in pool of unknown DNA

189
Q

Gene interaction

A

When 2/more different genes influence the outcome of a single trait

190
Q

Genotype

A

Genetic (allelic) constitution of organisms with respect to trait

191
Q

Parental generation

A

Generation of parents that are different homozygous

192
Q

F1 generation

A

1st generation of uniform offspring

From crossing of P generation

193
Q

F2 generation

A

2nd generation of offspring

From crossing 2 individuals of F1 generations

194
Q

B1 generation

A

1st generation of backcrossing

individuals of F1 & P generations

195
Q

Hybrid

A

Heterozygous

Usually offspring of 2 different homozygous individuals in certain trait

196
Q

Monohybrid cross

A

Cross involving parents differing in 1 studied trait

197
Q

Dihybrid cross

A

Cross involving parents differing in 2 traits

198
Q

Polyhybrid cross

A

Cross involving parents differing in more traits

199
Q

Mendelian Principles

A

Principle of…

1) Uniformity of F1 hybrids
2) Identity of reciprocal crosses
3) Segregation
4) Idenpendent assortment

200
Q

Mendelian principles hold true for…

A

Monogenic inheritance
Autosomal inheritance
Genes located on different chromosome pairs

201
Q

Alleles (D&R)

A

D: Allele that is expressed over second allele, functional form
R: Allele that is expressed only if 2nd allele is the same, non-functional form

202
Q

Relation between alleles

A

Complete dominance
Incomplete dominance
Codominance

203
Q

Complete dominance

A

Heterozygotes has same phenotype as dominant homozygous

204
Q

Incomplete dominance

A

Heterozygote has different phenotype than homozygote

205
Q

Codominance

A
2 different alleles of 1 gene are responsible for different phenotypes
Blood groups (1 gene, 3 alleles)
206
Q

Reciprocal interaction

A

Interaction with change of cleavage ratio
Trait is present in more forms: each of them is encoded by 1 combination of parent alleles of genes
Ex: Color of peppers
9:3:3:1

207
Q

Dominance Epistasis

A

Dominant allele of 1 gene suppresses the expression of a domiannt allele of a 2nd gene
Ex: Color of dahlia
12:3:1

208
Q

Epistatic & Hypostatic

A

Epistatic: Gene suppressing
Hypostatic: Gene being suppressed

209
Q

Recessive Epistasis

A

Recessive homozygous constitution of 1 gene suppresses the expression of a dominant allele of a 2nd gene
Ex: Color of salvia
9:4:3

210
Q

Complementarity

A

Dominant allele of 2/more genes cooperate in realization of phenotype
Trait is expressed if at least 1 dominant alleles of both genes is present at the same time
Ex: Color of flower of vetch
9:7

211
Q

Compensation

A

Function of dominant alleles of 2 different genes is contradictory, their phenotype effects exclude each other
Ex: Curvature of pea pod
10:3:3

212
Q

Inhibition

A

Dominant allele of inhibitor gene suppresses the manifestation of dominant allele of other gene
Inhibitor gene itself has no effect on phenotype
Ex: Color of hen feather
13:3

213
Q

Duplicity

A

In genes with the same phenotype
Intensity of effect depends on if genes cumulate or not, & if there is a relationship of dominance between alleles of a particular gene

214
Q

Duplicity noncumulative with dominance

A

There is no cumulation of dominant alleles
Ex: Shape of a capsule in toothwort
15:1

215
Q

Duplicity cumulative with dominance

COMPLETE DOMINANCE

A

Intensity is amplified by the number of dominant alleles
Ex: Color of barley grain
9:6:1

216
Q

Duplicity cumulative without dominance

INCOMPLETE DOMINANCE

A

Intensity depends on total number of active alleles
1:4:6:4:1
(4-3-2-1-0)

217
Q

Morgan principles

A

Genes located on 1 chromosome linearly running subsequently

Number of linkage groups equals to number of pairs of homologous chromosome

218
Q

3 point cross

A

Interactions between 3 genes observed

Used for setting of k map = order of genes & their distance from centromeres

219
Q

Test crossing

A

Similar to back crossing (cross hetero & homo)

Used to find frequency of genotypes according to phenotype ratio in offspring

220
Q

Cell theory (3)

A

All living things are made of cells
Every cell comes from another cell that lived before it
Cell is the basic unit of structure & function in all organisms

221
Q

Consequence of mutation

A
Spontaneous abortion
Anomaly of growth
Organ development disorder
Reproduction disorder
Immune development disorder
Mental retardation
222
Q

Examination of chromosome

A

1) Cell from amniotic fluid
2) Grow in vitro
3) Fytohemaglutinin stimulate mitosis
4) Stop mitosis after 2-3 days in metaphase by COLCHICINE
5) Lyse cells in hypotonic solution to release chromosomes
6) Stain chromosomes, group and photograph

223
Q

Colchicine

A

Mitotic inhibitor

Prevents mitotic spindle from forming

224
Q

Karyology

A

Study of whole sets of chromosomes: chromosomal aberrations and sex

225
Q

Kayotype and karyology

A

Observed chromosome characteristics of individuals or species
k-Gram: format of chromosome arranged in pairs, ordered by size and position of centromere

226
Q

Methods for chromosome identification

A

Chromosome banding

FISH

227
Q

FISH Principle

A

1) Probe bind to specific region on target chromosome

2) Chromosome are stained & cells viewed using fluorescence microscope

228
Q

Deletion

A

Part of chromosome is deleted
Interstitial/terminal
-Cry of the cat; K5

229
Q

Duplication

A

Part of chromosome is duplicated

- Fragile Z

230
Q

Insertion

A

Part of 1 chromosome is inserted into another chromosome

231
Q

Translocation

A

Part of 1 chromosome is translocated in another chromosome

- Reciprocal (mutual)

232
Q

Inversion

A

Changeover of segment in chromosome

233
Q

Human X chromosome

A
>153m. bp
5% woman DNA cell
2.5% men DNA cell
Gene-poor region (repeated segments)
2000 genes
X-linked genetic disorders
234
Q

Human Y chromosome

A

58m. bp
0.38% men DNA cell
Gene SRY
Holandric traits

235
Q

Homologous chromosome

A

Chromosome with same genes at the same loci but possibly different alleles

236
Q

Nonhomologous chromosome

A

Chromosome that contain alleles for different type of genes

237
Q

G banding

A

Treat chromosome with trypsin (partially difest protein) in metaphase
Stain with giemsa (dark bands are A, T rich and gene poor)

238
Q

R banding

A

Chromosomes are heated then stained with Giemsa

Produce a banding pattern -> reverse of that produced in G banding

239
Q

Molecular genetics

A

Structure and replication of DNA and gene expression on molecular level

240
Q

Classical genetics

A

Transfer of trait from 1 generation to another

241
Q

Population genetics

A

Variation in genes (traits) in 1 population or between more populations

242
Q

Sex-limited inheritance

A

Genes on autosomes of both sexes
Trait is expressed in 1 sex (anatomic predisposition)
Antlers, cryptochism

243
Q

Sex-influenced inheritance

A

Genes on autosomes of both sexes
Phenotype of heterozygote is influenced by sex of carrier due to hormones (M/F)
Dominant in males, recessive in female
Baldness

244
Q

Sex-controlled influence

A

Genes on autosomes of both sexes
Phenotype is controlled by sex hormones in heterozygote and homozygote
2 sex trait = beard in man

245
Q

Complete sex-linked

A

Heterologous part of chromosome
X = trait exists in both sexes
Y = holandric inheritance

246
Q

Incomplete sex-linked

A

Genes are located on homologous part of sex chromosome (crossing over usually blocked)

247
Q

Hemizygote

A

Gene only have 1 version of allele on 1 of 2 chromosomes

Variation on X chromosome but not Y chromosome

248
Q

Types of nonmendelian inheritance

A

1) Maternal inheritance
2) Maternal effect
3) Infectious heredity
4) Parental imprinting
5) Trinucleotide repeat disorder
6) Complex traits

249
Q

Infectious heredity

A

An infectious particle within cell of host may bring changes in phenotype of host organism & then pass on the altered phenotype to its offspring

250
Q

Parental imprinting cause

A

Gene deletion
Uniparental disomy
Methylation

251
Q

PWS

A

Missing gene activity that normally comes from dad

When dad’s copy is missing/there are 2 maternal copies

252
Q

AS

A

Missing gene activity that normally comes from mom

When mom’s copy is defective/missing or thare are 2 paternal copies

253
Q

Trinucleotide repeat disorder

A

Having too many copies of a certain nucleotide triplet in DNA

254
Q

Complex trait

A

Derived from multiple genes and their interaction with behavioral and environmental factors

255
Q

Polygene heritability

A

Influenced by many genes (polygenes), each one which contributes a small amount to the variation of a character which give a continual variability of phenotype

256
Q

Phenotype variability

A

Variability in phenotypes that exists in a population

Can be caused by genes, environmental factors or both

257
Q

Heritability

A

Proportion of variation of traits due to genes among individuals

258
Q

Broad-sense heritability

A

The degree to which a trait is genetically determined

Vg/Vp

259
Q

Narrow-sense heritability

A

The degree to which a trait is passed from parent to offspring
Va/Vp
= 1 -> genes are only difference froom individuals
= 0 -> genes do not contribute to phenotypic individual differences

260
Q

Usage of methods of molecular biology

A
Discovery of new genes and proteins
Gene regulation and protein function
Evolution study
Diagnosis of pathogens
Production of medicaments
Food industry
Gene engineering
Forensic medicine
Criminalistics
Identification of animals
Pedigree tests
261
Q

DNA isolation principle

A

1) Mech./chem. disruption of cells using enzymes/detergents to remove membrane lipids
2) Removing contaminants using enzymes (proteinase) to remove proteins bound to DNA/RNA
3) DNA extraction by precipitating DNA w/ alcohol

262
Q

PCR

A

Copies of DNA fragments

1) Denaturation, 95 - separates DNA strands -> ssDNA
2) Annealing, 55 - primer bind to DNA
3) Primer extension, 72 - polymerase extend primers, synthesize new strands of DNA

263
Q

PCR Ingredients

A

Isolated DNA
Nucleotides
Primers
DNA (Taq) polymerase

264
Q

Gel electrophoresis

A

Separate DNA fragments according to their size

1) Prepare agarose gel
2) Stain sample
3) Lay sample, set electrophoresis
4) Visualize DNA

265
Q

RFLP

A

1) Restriction endonucleases cleave DNA molecule in specific restriction sites based on DNA sequence
2) Gel electrophoresis
3) Detected polymorphism in restriction fragment numbers/lengths give info about differences in DNA sequences

266
Q

Hybridisation

A

Pairing of ss NA (based on complementarity) = opposite to denaturation of dsDNA
Use probe to detect complementary target sequence in DNA/RNA molecule

267
Q

Southern blotting

A

1) Take DNA and cleave it
2) Gel electrophoresis (fragment separation)
3) Gel -> (fragments of ssDNA transfer onto filter)
4) Expose filter to radio-labeledD DNA (complement of gene of interest)
5) Expose to x-ray

268
Q

DNA sequencing

A

Process of determining the sequence of nucleotide bases in pieces of DNA (set correct order)

1) PCR to amplify samples
2) Add ddNTP (No O2: termination of strand elongation when incorporated)
3) Gel electrophoresis

269
Q

DNA Sequencing ingredients

A
DNA polymerase
Primer
4 DNA nucleotides
Template DNA to be sequenced
4 ddNTPs with different color dye
270
Q

DNA Cloning bacteria

A

1) Restriction enzymes
2) Plasmid + ligase
3) Vial w/ bacteria -> copies
4) Petri dish

271
Q

HW Equilibrium

A

Frequency of alleles and genotypes in population will remain constant from generation to generation if population is stable and in genetic equilibrium

272
Q

Inbreeding + Autogamy

A

Allele frequencies are not changed
Genotype frequences are changed
Reduction of frequency of heterozygotes
Increasing of frequency of homozygotes

273
Q

Outbreeding (selection)

A

Change in allelic and genotype frequencies

Important for evolution

274
Q

Evolution

A

Change in allele frequencies over time

275
Q

Genetic drift

A

(Mechanism of evolution, allele f of a pop. change over generations due to chance)

Change in allelic frequencies between generations (fixation of some, elimination of some)
Reduction of heterozygotes
Increasing of homozygotes
Decreasing of genetic variability

276
Q

Gene flow

A

Change in allelic and genotype frequencies

Increasing genetic variability in population

277
Q

Practical applicaiton of population genetics

A

Genetic diseases
Problems in small populations
Study of evolution

278
Q

Genetic diseases, influence:

A
Mutation
Selection
Genetic drift
Gene flow
Inbreeding
279
Q

Small populations

A

Fixation of unfavourable alleles
Increasing of homozygotes
Decreasing of genetic variability
Decreasing of fitness, leading to disease

280
Q

Study of evolution

A

Phylogenetic tree - common ancestor

281
Q

Biological evolution

A

Microevolution
Speciation
Macroevolution

282
Q

Neodarwinism

A

Synthesis with Mendelian genetics and populations genetics

283
Q

Basic mechanisms of evolution

A
Heritability variability (mutations and recombinations)
Changing environment (adaptions)
Natural (sexual) selection
284
Q

Microevolution mechansim, ex, & long-term result

A

Inbreeding/genetic drift
Industrial melanism
Subpopulations -> subspecies -> new species

285
Q

Anagenesis

A

Changes in species without cleavage into evolution lines

286
Q

Cladogenesis

A

Cleavage of evolution lines

287
Q

Cladogenesis -Allopatric

A

Speciation with geographic isolation

Squirrels

288
Q

Cladogenesis - Sympatric

A

Speciation within population without geographic isolaton

289
Q

Syngenesis

A

Fusion of originally separate ancestral lineages

Synklepton: species that requires input from another biological taxon to complete their reproductive cycle.

290
Q

Macroevolution

A

Major evolutionary events on a geological timescale (evo. of higher taxa)
Theory of punctuated equilibrium: alternation of stasigenesis and evolutionary activity

291
Q

Man as a source of evolutionary changes

A

Alters biosphere
Change criteria for advantages/disadvantageous phenotypes/genotypes
New genotoxins
Genome manipulation
Threat to biodiversity + existence for life (exponential growth)

292
Q

Coevolution

A

When two or more species reciprocally affect each other’s evolution

  • Mutualistic: benefit from each other
  • Competitive: prey and predator
293
Q

Adaptive radiation

A

Process in which organisms diversify rapidly from an ancestral species into a multitude of new forms.
Particularly when a change in the environment makes new resources available, creates new challenges, or opens new environmental niches.
- Development of mammals after extinction of dinosaurs