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OS 201 E3 > Human Genome > Flashcards

Human Genome Flashcards

1
Q

Percentage of genes in genome

A

2-3%

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2
Q

Correlation between genome size and organism complexity

A

None

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3
Q

Definition of telomere

A

Ends of chromosome

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4
Q

Original definition of genome

A

Collection of genes contained within a haploid chromosome set

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5
Q

Modern definition of genome

A

Locatable region of genomic sequence corresponding to a unit of inheritance associated with regulatory regions, transcribed regions, and/or other functional sequence regions

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6
Q

Definition of centromere

A

Central region of chromosome

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7
Q

Arms of chromosome?

A

Chromatid

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8
Q

Shorter arm of chromosome

A

P arm

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9
Q

Longer arm of chromosome

A

Q arm

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10
Q

Number of rings in purine

A

Two

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11
Q

Number of rings in pyrimidine

A

One

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12
Q

Which bases are purines?

A

Adenine, Guanine

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13
Q

Which bases are pyrimidines?

A

Cytosine, Thymine

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14
Q

Correlation between GC content and melting point

A

Higher GC content, higher melting point

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15
Q

Which is more preferred for expression? AT or CG?

A

AT

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16
Q

Correlation between GC content and level of expression

A

Higher GC content, more silenced genes

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17
Q

Number of bonds in AT linkage

A

2

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18
Q

Number of bonds in CG linkage

A

3

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19
Q

Definition of intron and exon

A

Intron –> region of DNA not expressed

Exon –> expressed region of DNA

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20
Q

Parts of the UTR/Leading sequence

A
  1. Enhancer
  2. Promoter
  3. Operator
  4. Consensus sequence
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21
Q

Consensus sequence in a) prokaryotes, b) eukaryotes

A

a) Pribnow box (TATAAT)

b) Hogness box (TATA)

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22
Q

Parts of coding sequence

A
  1. Start codon (AUG)
  2. Introns and exons
  3. Stop codon (UAA, UAG, UGA)
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23
Q

Definition of open reading frame

A

Region of DNA corresponding to coding sequence

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24
Q

Name and define the regions associated with the alternating introns and exons

A
  1. Pre Region –> signal region, determines where the protein will go
  2. Pro Region –> determines posttranslational modification
  3. Mature Region –> encodes the protein
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25
Q

Parts of the UTR/trailing sequence

A
  1. 2nd termination signal

2. Cleavage signal (AAUAA) containing poly-A tail

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26
Q

Central dogma of molecular biology

A
  1. Replication –> DNA duplication
  2. Transcription –> RNA synthesis
  3. Translation –> protein synthesis
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27
Q

Number of base pairs in human genome

A

3200 M

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28
Q

Composition of human genome

A
  1. Euchromatic portion –> 3000 Mb, transcriptionally active

2. Constituitive heterochromatin –> 200 Mb, transcriptionally inactive

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29
Q

Where can constituitive heterochromatin be found?

A
  1. Centromeres
  2. Long arm of Y chromosome
  3. Short arm of acentric chromosomes (13, 14, 15, 21, 22)
  4. Secondary constriction of long arm of 1, 19, 16
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30
Q

Percentage composition of bases in genome

A

GC –> 41%

AT –> 59%

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31
Q

What are Giemsa bands?

A
  1. Dark bands –> low GC, 37%
  2. Light bands –> hgih GC, 45%
    both bands seen in karyotype
32
Q

Number of genes in human genome

A

30,000 - 35,000

33
Q

Percentage of genes coding untranslated RNA

34
Q

Mechanism of gene distribution

A

Hybridization of CpG islands to metaphase chromosomes

35
Q

General trend in abundance of euchromatin and heterochromatin in genes

A

Chromosome 1 has highest amount of euchromatin and heterochromain, amount decreases as chromosome number increases

36
Q

Composition of nuclear genome

A
  1. 95.5% noncoding DNA

2. 4.5% conserved DNA –> 3% untranslated & regulatory, 1.5% coding DNA

37
Q

Definition of pseudogenes

A

Multiple copies of genes serving as rescue genes in case original genes get damaged

38
Q

Number of BP in mitochondrial genome

39
Q

Number and characteristics of genes in mitochondria

A

37 genes –> 22 tRNA, 2rRNA, 13 protein coding

40
Q

Structure and significance of D-loop in mitochondrial genome

A

Triple stranded region, origin for replication of mitochondrial genome

41
Q

Misc. characteristics of mitochondrial genome

A
  1. All genes lack introns
  2. Some coding sequences are overlapping
  3. Some genes lack stop codons (added posttranscriptionally)
42
Q

Endosymbiont theory

A

Mitochondria may have originated from symbiotic prokaryotic bacteria

43
Q

Significance of mitochondria in apoptosis

A

Contains cytochrome C –> critical component in apoptosis

44
Q

Enumerate RNA polymerases and their functions

A
  1. RNA Polymerase I –> ribosomal synthesis
  2. RNA Polymerase II –> synthesis of mRNA, snRNA, microRNA
  3. RNA Polymerase III –> synthesis of tRNA, rRNA 5S, misc small RNAs
45
Q

Subunits of nuclear rRNA

A
  1. large subunit (18S, 5.8S, 5S)

2. small subunit (18S)

46
Q

Subunits of mitochondrial rRNA

47
Q

Function of tRNA

A

Carries amino acids during translation

48
Q

Significance of snRNA

A

Involved in RNA maturation, spliceosomal RNA

49
Q

Significance of snoRNA

A

Guides site-specific base modification in rRNA & snRNA

50
Q

Subfamilies of snoRNA

A
  1. C/D box snoRNA –> guides site-specific methylations in rRNA
  2. H/ACA snoRNA –> guides site-specific pseudourylation of uridine to produce pseudouridine in rRNA
51
Q

Significance of miRNA

A

Antisense regulator of genes –> bind to complementary sequence in 3’-UTR to inhibit translation

52
Q

Significance of noncoding 7SK RNA

A

Negative transcriptional inhibition of RNA polymerase II elongation

53
Q

Significance of SRA1 RNA

A

Coactivator of steroid receptors

54
Q

Examples of identical proteins coded by different genes

A

Histone, ubiquitin

55
Q

Characteristics of classical gene families

A
  1. High degree of sequence homology

2. Products have short conserved amino acid motifs

56
Q

Example of conserved amino acid motifs in classical gene families

A
  1. DEAD (Asp-Glu-Ala-Asp)

2. WD (tryptophan-aspartate)

57
Q

Characteristics of gene superfamilies

A
  1. No significant conserved amino acid motifs

2. Share general common structural features, general

58
Q

Examples of gene superfamilies

A
  1. Immunoglobulin superfamily –> immunoglobulin genes, T cell receptor genes, HLA genes
  2. Globin superfamily –> alpha and beta globin, neuroglobin, myoglobin
  3. G protein-coupled receptor superfamily –> mediate ligand induced signaling between extracellular and intracellular environments
59
Q

Characteristics of pseudogenes

A
  1. Copied at the level of genomic DNA by tandem gene duplication
    2, Contain all elements of a gene but have inappropriate termination codons in exons
60
Q

Characteristics of a) perocentromeric and b) subtelomeric genes

A

a) contain sequences that have been copied recently during evolution and are located on several chromsomes
b) unstable and prone to duplication

61
Q

Definition of retrogenes

A

Nonprocessed pseudogenes that are integrated in a chromosome next to a promoter and expressed

62
Q

Definition of comparative genomics

A

New field of biological research dealing with the comparison of genomes of different species

63
Q

BLAST

A
  1. Basic local alignment search tool

2. Searches for sets of optimal local alignments based on a query

64
Q

Ways that a species’ genome may change (4)

A
  1. Expansion –> gene duplication
  2. Genesis –> creation of new genome
  3. Exchange
  4. Deletion
65
Q

Mechanisms which govern ganges at the protein level are most likely due to: _____

A

Nucleotide substitution, insertion, deletion

66
Q

Changes may give rise to new genes which become fixed if ____________

A

they give the organism an advantage in natural selection

67
Q

Definition of purifying selection / negative selection

A

Natural selection against deleterious mutations

68
Q

Significance of purifying selective force

A

Prevent accumulation of mutation at important functional sites, resulting in sequence conservation

69
Q

Definition of neutral theory

A

a() Molecular evolution caused by random genetic drift through mutations that are selectively neutral or nearly neutral.
b) Describes cases in which natural selection is not strong enough to outweigh random events

70
Q

Definition of positive selection

A
  1. Darwinian selection fixing advantageous mutations
  2. Equal to molecular adaptation and adaptive molecular evolution
  3. ex. people who have sickle cell anemia are less affected by malaria
71
Q

Definition of a) synonymous substitution, b) non synonymous substitution

A

a) substitution in DNA that alters the amino acid sequence of the coded protein
b) substitution in DNA that does not alter the amino acid sequence of the coded protein

72
Q

The nucleotide sequences of a pair of homologous genes have a (higher or lower?) information content than the amino acid sequences of their coded proteins

A

Higher, due to the fact that synonymous mutations change the DNA without changing the protein

73
Q

Types of nucleotide substitution (6)

A

Given 2 nucleotide sequences, we can ask how their similarities and differences arose from a common ancestor.

  1. single substitution –> 1 change 1 difference
  2. multiple substitution –> 2 changes 1 difference
  3. coincidental substitution –> 2 changes 1 difference
  4. parallel substitution –> 2 changes, no difference
  5. convergent substitution –> 3 changes, no difference
  6. back substitution –> 2 changes, no difference
74
Q

Transition vs Transversion

A

Types of substitution

  1. Transition –> purine for purine, pyrimidine for pyrimidine
  2. Transversion –> purine for pyrimidine
75
Q

Which occurs more frequently? Transitions or transversions? Why?

A

Transitions occur 2x more frequently than transversions –> easier to replace for the same type

76
Q

Enumerate the types of mutation, and their characteristics

A
  1. Based on effect –> lethal vs nonlethal
  2. Based on size/position –> Point mutation (missense, nonsense, frameshift)
  3. Based on substitution –> transition vs subversion
77
Q

Differentiate missense, nonsense, and frameshift mutations

A
  1. missense –> single nucleotide change causes a different amino acid to be coded
  2. nonsense –> single nucleotide change causes premature stop codon
  3. frameshift –> insertions or deletions that change the reading frame (not divisible by 3)

OS 201 E3 (2 decks)

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