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Genetics & Evolution > TASK 1 > Flashcards

TASK 1 Flashcards

Variation

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1
Q

Phenotype

A
  • Expression of the genotype

- observable characteristics that change

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2
Q

Genotype

A
  • Underlying genes/sequence of genes which determine specific characteristics
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3
Q

Haploid cell

A
  • Cells with only 1 set of chromosomes

- germ cells: egg/sperm cells

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4
Q

Pyrimidine

A

Cytosine, Thymine

- only single organic ring

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5
Q

Purine

A

Adenine, Guanine

- have two organic rings (stronger bond)

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6
Q

Nucleotide

A

= base + backbone

  • -> nitrogenous base, five carbon sugar and (at least) one phosphate group
  • building blocks of nucleic acids
  • nucleoside = base + sugar
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7
Q

Gaussian curve of human nature

A
  • Bell curve

- “normal” and most common behaviour around the mean / peak and extreme behaviours to the left and right ends

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8
Q

Recombination

A

Production of offspring with combinations of traits that differ from those found in either parent
- Eukaryotes: genetic recombination during meiosis can lead to a novel set of genetic information that can be passed on from the parents to the offspring.

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9
Q

Genetic linkage

A
  • tendency of DNA sequences that are close together on a chromosome to be inherited together
  • during the meiosis phase of sexual reproduction
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10
Q

Epigenetics

A
  • study of changes in organisms caused by modification of gene expression (= how many copies of certain RNA molecule are made)
  • rather than alteration of genetic code itself
  • -> methylation (DNA level)
  • -> acetylation (Histone level)
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11
Q

Methylation

A

= methyl groups are added to DNA molecule

  • can change activity of a DNA segment without changing the sequence
  • -> methylated: repress/stop gene transcription/expression
  • -> not methylated: enhanced gene expression
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12
Q

Acetylation

A

= acetyl groups (-COCH3) are attached to lysins (AA) in histone tails (N-terminus)

  • Histone code hypothesis: specific combinations of modifications & the order in which they occur helps determine the chromatin configuration –> in turn influences transcription
  • -> acetylated: chromatin structure more loose = easier access for transcription proteins
  • -> not acetylated: removal of acetyl groups; chromatin more compactly folded = no access for transcription proteins
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13
Q

Gene mutation

A
  • Permanent alteration in the DNA sequence such –> differs from what is found in most people
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14
Q

Frameshift mutation

A
  • addition or deletion of one or more base pairs in the DNA –> whenever number of nucleotides added/deleted not multiple of 3
  • alters reading frame of genetic messages
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15
Q

Types of mutations

A
  • point mutation/single-base substitutions
  • slippage
  • transposition/segmental duplication
  • chromosomal mutations
  • mutagens
  • frameshift mutation
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16
Q

Point mutation/Single base substitutions

A
  • only affecting 1 or very few nucleotides in a gene sequence
  • -> transitions
  • -> transversion
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17
Q

Slippage/Simple sequence repeat expansion/contraction

A
  • leads to trinucleotide or dinucleotide expansion/ contraction during DNA replication
  • normally occurs when a sequence of repetitive nucleotides is found at the site of replication
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18
Q

Transposition/Segmental duplication

A
  • chromosomal segment is transferred to a new position on the same or another chromosome
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19
Q

Synonymous mutation

A
  • no amino acid change
  • Due to the redundancy of the genetic code
  • silent mutation: no change in phenotype
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20
Q

Non-synonymous mutation

A
  • amino acid change

- changes in phenotype

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21
Q

Central dogma in genetics

A
  • Flow of genetic information within a biological system
  • only in one direction and not the other
    = DNA –> (via transcription) RNA –> (via Splicing) mRNA –> (via translation) Proteins
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22
Q

Genome

A
  • haploid set of chromosomes in a gamete
  • consists of all genetic information instruction of cell
  • all the chromosomes together
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23
Q

Somatic cells

A

Any cell of a living organism other than the reproductive cells

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24
Q

Germ cells

A
  • Cell containing half the number of chromosomes (only 23)

- able to unite with one form of the opposite sex to form a new individual (gamete)

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25
Q

Gametes

A
  • Reproductive cells

- haploid = only carry one copy of each chromosome

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26
Q

Chromosomes

A

Thread like structure of nucleic acids and proteins carrying the genetic information (DNA) in the form of genes

27
Q

Autosomes

A

Any chromosome that is not a sex chromosome

28
Q

Eukaryotic cell

A

Cells with a nucleus enclosed with membranes

- humans

29
Q

Prokaryotic cell

A

Cells that have no nucleus, DNA can be everywhere

- bacteria

30
Q

Mitosis

A
  • Cell division
  • results in 2 daughter cells each having the same number and kind of chromosomes as the parent nucleus (occurs in tissue growth)
31
Q

Meiosis

A
  • Cell division
  • results in 4 daughter cells each with half the number of chromosomes of the parent cell (occurs in the production of gametes)
32
Q

Nucleotides / base pairs / nucleobases

A
  • Building blocks of nucleic acids
  • Adenine + Thymine
  • Cytosine + Guanine
33
Q

Sugar-phosphate backbones

A

Makes up the strands of the DNA

34
Q

Replication

A
  • 2 strands of the parental molecule separate (replication fork) –> each functions as a template for synthesis of a new complementary strand
  • only works continuously for leading strand
  • result: 2 x new (identical to previous) DNA
    1. Helicase
    2. Primase
    3. DNA polymerase III
    4. DNA polymerase I
    5. DNA ligase
35
Q

Helicase (1)

A
  • “unpackages” an organisms genes (open up the DNA so it can duplicate)
  • recognise sequence of nucleotides –> attach to DNA –> start separating the 2 strands
  • replication bubble with Y-shaped replication fork at both ends
36
Q

DNA polymerase III (3)

A
  • adds DNA nucleotides (= monomers) to the 3’ end of the RNA-primer
  • -> Come from nucleoside triphosphates
37
Q

Replication fork

A

Place where the helicase splitted up the 2 strands of DNA

38
Q

Introns

A
  • Non-coding part of the DNA
  • stay in nucleus
  • Pseudogenes = genes that have ceased to be translated (e.g. olfactory)
  • Transposable elements = multiple near-identical copies of particular sequences of bases; around 43% of ncDNA; can be thought of as parasites; ability to copy themselves into different parts of genome
  • Simple sequence repeats = short internally repetitive sequences
  • -> shorter = microsatellites
  • -> longer = minisatellites
39
Q

Exons

A
  • Coding part of the DNA that exit the cell nucleus

- gets translated into mRNA –> encodes amino acids at ribosomes

40
Q

Transcription

A
  • First step of gene expression
  • synthesis of RNA –> using information in DNA by RNA polymerase II
  • use template/lagging strand –> make copy of non-template strand/coding strand of DNA
41
Q

Splicing

A
  • Editing pre-mRNA/RNA into mRNA
  • removing of introns + ligation (putting together) of exons
  • Spliceosomes remove introns
42
Q

Translation

A
  • Process in which ribosomes synthesise proteins
  • tRNA adds up the amino acids coded for by the mRNA
  • synthesis of a protein (polypeptide) using the information in the mRNA
  • initiation codons (AUG) + termination codons: start + stop signals for translation
  • site of translation: Ribosomes
  • change in language –> monomers are amino acids (rather than nucleotides)
  • tRNA: binds to codon at ribosome to form amino-acid-chain
  • -> Redundancy
43
Q

Ribosomes

A
  • Molecular machine that serves protein synthesis

- link amino acids together in the order specified by the mRNA

44
Q

RNA

A

= Ribonucleic acid

  • formed through transcription
  • uracil instead of thymine
  • one strand not two
  • contains exons + introns
45
Q

mRNA

A

= Messenger RNA

- only contains the exons and leaves the cell nucleus in order to travel to the ribosomes

46
Q

tRNA

A

Transfer RNA that transports the amino acids and delivers them to the ribosomes when needed

47
Q

Amino acids

A
  • Organic compounds containing amine and carboxyl functioning groups
  • building blocks of proteins
48
Q

Protein

A

Made up of amino acid (chains)

49
Q

Triplet / Codon

A
  • set of 3 nucleotides

- as a group (triplet) code for one specific amino acid

50
Q

Genetic code

A

Relation between triplet and amino acid

51
Q

Redundancy

A
  • multiple coding code for same amino acid

- protection against variation

52
Q

Diploid cell

A
  • cell with 2 sets of chromosomes

- all somatic cells

53
Q

DNA

A

= deoxyribonucleic acid

- functions: replication + synthesis of proteins

54
Q

Primase (2)

A

synthesises primer = short stretch of RNA –> serves as starting point (5-10 nucleotides long)

55
Q

Leading strand/Forward strand

A
  • 5’ > 3’ direction (toward replication fork)
  • -> polymerase can only add nucleoside triphosphates to the 3’ end –> only one primer required
  • replication only works continuously for leading strand
56
Q

Lagging strand/Reverse complement strand

A
  • 3’ > 5’ direction
  • replication works discontinuously –> series of segments away from the fork –> requires more primer
  • -> Okazaki fragments (each fragment must be primed separately)
57
Q

DNA polymerase I (4)

A

replaces primers with DNA nucleotides

58
Q

DNA ligase (5)

A

joins/puts together backbones of Okazaki fragments

59
Q

Transition

A
  • interchange of purines (A G) or of pyrimides (C T)
60
Q

Transversion

A
  • interchange of purine (A/G) with pyramid (C/T)
61
Q

Mutagens

A
  • physical/chemical agents that interact with DNA in ways that cause mutations
62
Q

Whole genome duplication

A
  • creates an organism with additional copies of the entire genome of a species
63
Q

Transcription factors (TF)

A
  • locate right gene at the right time & regulate transcription
  • General TF = essential for transcription of ALL protein coding genes
  • Specific TF = essential for transcription of PARTICULAR genes (in addition to general TF)
64
Q

Alternative splicing

A
  • different mRNA molecules are produced from the same primary transcript
  • depending on which RNA segments are treated as exons and which as introns
  • -> important for variation

Genetics & Evolution (5 decks)

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