Molecular Genetics Flashcards

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1
Q

What is SLC2682?

A

Gene which results in issues producing cartilage.

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2
Q

What is BRCA1/2?

A

Gene that when mutated can cause breast cancer.

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3
Q

How does Herceptin contribute to the treatment of cancer?

A
  • binds to receptors in the breast (HER2) and blocks info which tells cells to divide.
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4
Q

What are the 4 theories in where we came from?

A

Ovism - tiny humans already in the egg/sperm
Spontaneous Generation - generate spontaneously
Panspermism - not already formed, comes from particles in the body
Maupertuis - suggested we were a result of both mother and father particles together

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5
Q

Who first observed cells in 1600?

A

Leewenhock

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6
Q

Who proposed all organisms made out of cells in 1830?

A

Schleiden and Schwann

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7
Q

Who proved microbes couldn’t spontaneously occur?

A

Louis Pasteur

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8
Q

Who and in what year proved DNA was the heritable molecule?

A

Oswald Avery 1944

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9
Q

How did Avery prove DNA was the heritable molecule?

A
  • Isolated molecular components of heat killed pneumococci serotype
  • smooth capsule trait from heat killed cells was picked up by cultures of rough cells when DNA wasn’t degraded
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10
Q

Is bacteria’s genome stored in the nucleus?

A

No, stored as operons

- single circular chromosomes with a single replication origin

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11
Q

What is a plasmid?

A

Small circular DNA molecules which contain a reduced number of genes
- can be transferred between bacteria of same species or between species

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12
Q

What are the features of Plasmids?

A
  • 1000’s - 100000’s bp long
  • can exist in multiple copies within a cell
  • many diff plasmids inhabit one species
  • some promote genetic exchange between bacteria
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13
Q

Features of E.Coli

A
  • lives in gut causing no harm
  • Glucose is its main food source
  • can also feed of lactose
  • must break down lactose –> galactose and glucose (using lactase)
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14
Q

What happens when lactose is available in E.coli?

A
  • It will pass through enzyme permease

- beta galactosidase will transfer some lactose to allolactose, some also transferred to galactose and glucose

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15
Q

Features of a Lac Operon

A
  • Promotor Region
  • Operator Reion (where protein binds to)
  • 3 structural genes
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16
Q

What happens in the absence of lactose in the Lac Operon?

A
  • Repressor protein binds to operator
  • So RNA polymerase cannot bind
  • NO TRANSCRIPTION occurs
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17
Q

What happens in the presence of lactose in the Lac Operon?

A
  • Beta galactosidase binds to lactose and changes some to allolactose
  • allolactose binds to active regulator protein so itll no longer bind to operator site
  • TRANSCRIPTION OCCURS
  • RNA polymerase can bind to operator
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18
Q

What is an operon and what is the regulatory region and molecule which binds to it called?

A

A single transcriptional unit that includes a series of structural genes, a promotor and an operator.

  • transcription is under control of a single regulatory region (located upstream of gene) called cis-acting
  • molecule that bind to this are called transacting
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19
Q

What is and inducible operon?

A
  • Transcription normally off and needs to be turned on

- an inducer is a small molecule which turns on transcription

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20
Q

What is a repressible operon?

A
  • Transcription normally on and needs to be turned off
  • co-repressor is small molecule which binds to repressor making it incapable of binding to operator, thus turning off transcription.
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21
Q

In inducible operons, what is negative control?

A
  • Transcription occurs only when the inducer binds to the repressor and makes it inactive
  • therefore repressor cant bind to operator so transcription can occur
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22
Q

In inducible operons, what is positive control?

A
  • Regulatory protein is an activator so inducer must bind with it to make it active
  • then transcription can occur
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23
Q

In repressible operons, what is negative control?

A
  • Transcription blocked when co-repressor binds to regulator allowing it to bind to DNA and block trancription
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24
Q

In repressible operons, what is positive control?

A
  • regulatory protein is an activator
  • transcription is blocked when co repressor binds to regulator
  • then it cant bind to promotor regulator so RNA polymerase is not recruited
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25
Q

What occurs when Extracellular osmolarity is low?

A
  • the ompF mRNA is translated to produce ompF protein (serves as a passive chanel for small polar molecules)
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26
Q

What occurs when Extracellular osmolarity is high?

A
  • the micF gene is activated and micF RNA produced
  • the micF pairs with the 5’ end of ompF RNA blocking ribosome binding site.
  • no ompF protein produced
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27
Q

What is a riboswitch found in a prokaryote?

A

A regulatory sequence of mRNA molecules where molecules can bind and affect gene expression by influencing secondary structure formation in mRNA.

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28
Q

What happens in a riboswitch when the regulatory protein doesn’t bind?

A
  • riboswitch assumes an alternative secondary structure that makes the ribosomes binding site available so translation occurs.
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29
Q

What is a ribozyme?

A

Can catalyse biochemical functions

- but when bound to small molecules can induce the cleavage of degradation of RNA, PREVENTING TRANSLATION

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30
Q

Who produced insulin producing beta pancreatic cells?

A

Douglas Melton

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31
Q

What does a nuclear membrane allow?

A
  • allows other steps to process RNA between transcription and translation
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32
Q

What do Histones allow?

A
  • dna to be more compact and thus have higher quantities of it
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33
Q

What do multiple linear chromosomes allow?

A
  • cells to hold more DNA and add more regulatory genes to genome
34
Q

What does single gene transcription allow?

A
  • control of how much each gene is expressed
35
Q

What are the 3 types of RNA Polymerase in eukaryotes?

A

Polymerase I - rRNAs
Polymerase II - pre mRNAs, snoRNAs, some miRNAs and snRNAs
Polymerase III - tRNAs, smallRNAs, miRNAs, and some snRNAs

36
Q

What must eukaryotes DNA do before transcription?

A
  • unwind from the histone
37
Q

What occurs in post transcriptional modification?

A
  • addition of a 5’ cap added

- splicing

38
Q

What do coactivator do?

A
  • bind to other molecules not the promotor itself
39
Q

How is transcription initiated in Eukaryotic promotor?

A

1) Promotor has a TATA box
2) one strand as template, transcription factors bind to DNA promotor region and transcription initiation complex forms
3) some transcription factors after transcription started

40
Q

What is an insulator?

A
  • DNA sequence that blocks / insulates the effect of enhancers
41
Q

What is transcriptional stalling?

A
  • extra layer of regulation of heat shock proteins and genes
  • good for genes that have been transcribed at short notice
  • transcription elongation blocks released and transcription proceeds
42
Q

Altering the chromatin structure by Chromatin Remodelling

A
  • repositioning of nucleotides results in a change in structure
  • allows transcription factors to bind to DNA and initiate transcription
  • chromatin remodelling complexes bind to specific DNA sites
43
Q

2 Types of histone modification?

A
  • Methylation

- aceylation

44
Q

What is DNA methylation?

A
  • Methyl group binds to nucleotide, makes less easy for transcription factors to bind as it becomes more tightly wrapped around the histone protein.
45
Q

Which way does polymerase go along template strand?

A

3’-5’ direction - but synthesis in other

46
Q

In post transcriptional modifications what is RNA degradation?

A
  • 5’ cap removal
  • shortening of poly A tail
  • degradation of 5’ UTR coding sequence and 3’ UTR
47
Q

In post transcriptional modifications what is the purpose of addition of a Poly Adenine Tail?

A
  • polyAtail added to 3’ end

- it bends over to 5’ end to stabilise ribosome

48
Q

In post transcriptional modifications what is the purpose of RNA splicing?

A
  • you don’t get a protein that may be harmful and you don’t waste energy on translation
49
Q

In post transcriptional modifications what is DNA - RNA mismatch / RNA processing?

A
  • Colinearity - 2 strands of genetic material perfectly align to each other
50
Q

In post transcriptional modifications what is Alternative splicing?

A
  • allows a single gene to produce several protein products
  • introns can be used as regulatory mechanisms
  • eg. Alt Spli of tra gene
51
Q

In flies how is Sex determined by post transcriptional modifications?

A

Males - upstream splice site is used, inclusion of premature stop codon so no functional tra protein produced.
Females - presence of SxI protein causes downstream splice of 3’ site to be used, termination codon spliced out so functional tra protein produced.

52
Q

What is RNA interference?

A
  • inhibition of translation
  • altering chromatin structure
  • used to reduce expression of target genes
53
Q

siRNA and microRNAs functions and purpose

A
  • 22 nucleotides long, both prevent mRNA’s being translated
  • double stranded RNA cleavage
  • siRNA can lead to degradation of mRNA by cleavage
  • microRNA can form complexes with proteins, bind with mature RNA and will block translation
  • some miRNAs methylate histones
  • siRNA’s can treat cancer, reduction of liver tumours.
54
Q

Key features of mitochondria and Chloroplasts

A
  • both have outer and inner membranes
  • both DNA and ribosomes
  • both provide energy to the cell
  • contain their own genomes
  • endosymbiotic theory
  • their genes migrated to the nucleus
55
Q

Features of only mitochondria

A
  • 6kbp - millions of bp
  • resp and ox phosphor
  • most of proteins encoded in nucleus translated in cytoplasmic ribosomes then into mitochondria
  • mitochondrial DNA inherited from mother
  • dependent on nuclear transcription
  • used for phylogenetic studies
56
Q

Features of only chloroplast

A
  • 80000-600000 bp
  • circular double stranded DNA
  • highly coiled
  • no histone proteins
  • rRNAs and tRNAs
  • genes in operons
  • transcription and lation similar to eubacteria
  • DNA evolves slower than mitochondria
  • used to asses phylogenetic relationships among plant species
57
Q

How can mitochondria be different in TAXA?

A
  • huge genome size variation
  • plant mit have multiple circular DNA
  • linear in some species
58
Q

Features of the Human mitochondrial genome

A
  • 16000bp
  • no UTR
  • single promotor per strand
  • 2 long transcripts are cleaved
59
Q

Features of Yeast mitochondrial genome

A
  • 78000bp
  • high non coding DNA content
  • many introns
  • UTR’s and intergene spacers
60
Q

Features of plant mitochondrial genome

A
  • variation in size of genome
  • multiple circular genomes
  • high repeat DNA content
61
Q

Who started the Human Genome project and what was diff between first and second one/The shotgun sequencing technique used by Craig Venter differed from the strategy used by the public funded sequencing consortium in that…

A
  • Craig Venter
  • private funding
  • shotgun sequencing involved sequencing shorter fragments of DNA
  • shotgun sequencing did not involve the construction of a detailed map of genetic markers
  • shotgun sequencing did not require cloning of very large chromosome fragments in a yeast vector
62
Q

What was the goal of the HGP?

A

Obtain the entire sequence of the haploid human genome

63
Q

What were the HGP expectations and what did it actually reveal?

A
  • understand functions of genes
  • understand genomic basis of diseases and cure them
  • revealed only a fraction of the genes present that we thought 20-22k
64
Q

What is comparative genomics?

A

Comparing genomes of diff species

65
Q

What is functional genomics?

A

Using techniques to assess RNA levels

66
Q

What is structural genomics?

A

Determines DNA sequence of entire genomes

67
Q

What is a Transposon?

A
  • short sequences along DNA which can change position

- mechanisms for copies

68
Q

What is Homologus? (comparative genomics)

A
  • genes that are evolutionarily related
69
Q

What is Orthologs?(comparative genomics)

A
  • homologus genes in diff species that evolved from same gene in common ancestor
70
Q

What is Paralogs?(comparative genomics)

A
  • Homologus genes arising by duplication of a single gene in same organism.
71
Q

What is a transcriptome? (functional genomics)

A
  • all RNA molecules transcribed from a genome
72
Q

What is Proteome? (functional genomics)

A
  • all proteins encoded by a genome
73
Q

What is transcriptomics? (functional genomics)

A
  • assessment of gene activity of many genes at a time
74
Q

siRNAs and miRNAs are produced by

A

The cutting and processing of double-stranded RNA by Dicer enzymes

75
Q

What is the difference between a structural gene and a regulator gene?

A
  • Structural genes encode proteins or functional RNAs not involved in gene expression regulation; regulator genes control the transcription of structural genes
76
Q

What genes is found in all bacterial transposable elements?

A

A transposase gene

77
Q

Mitochondria have been linked to ageing because

A

Oxidative phosphorylation in mitochondria generates free radicals

78
Q

In a negative repressible operon, the regulator protein is synthesized as…

A

An inactive repressor

79
Q

A haplotype refers to

A

A particular set of polymorphisms in a chromosome

80
Q

What does the term heteroplasmy mean?

A

Cells with a variable mixture of normal and abnormal organelles