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Irreversible Cell Injury > Introduction to the human genome > Flashcards

Introduction to the human genome Flashcards

1
Q

What is the human genome?

A

The complete set of genetic information for humans, including all genes and non-coding sequences.

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2
Q

How many chromosomes are found in the human genome?

A

46 chromosomes, organized into 23 pairs.

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3
Q

What are the two types of chromosomes in the human genome?

A

Autosomes and sex chromosomes.

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4
Q

True or False: The human genome contains only protein-coding genes.

A

False. It includes both protein-coding and non-coding sequences.

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5
Q

What is the estimated number of protein-coding genes in the human genome?

A

Approximately 20,000 to 25,000 protein-coding genes.

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6
Q

Fill in the blank: A __________ is a specific location on a chromosome that contains a gene.

A

locus

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7
Q

What is the function of non-coding RNA in the genome?

A

Non-coding RNA plays roles in gene regulation and other cellular processes.

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8
Q

What are introns?

A

Non-coding sequences within a gene that are removed during RNA processing.

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9
Q

What are exons?

A

Coding sequences of a gene that are retained in the final mRNA.

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10
Q

Which chromosome pair determines a person’s sex?

A

The 23rd pair, consisting of either XX for females or XY for males.

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11
Q

True or False: The majority of the human genome is composed of repetitive sequences.

A

True.

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12
Q

What is a gene?

A

A segment of DNA that contains the instructions for making a specific protein.

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13
Q

What is the role of regulatory sequences in the genome?

A

Regulatory sequences control the expression of genes.

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14
Q

What is a SNP?

A

Single nucleotide polymorphism, a variation in a single nucleotide that occurs at a specific position in the genome.

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15
Q

Fill in the blank: The human genome project was completed in __________.

A

2003

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16
Q

What is the significance of the human genome project?

A

It provided a complete map of human DNA, aiding in medical research and understanding genetics.

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17
Q

What are telomeres?

A

The protective caps at the ends of chromosomes that prevent degradation.

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18
Q

How do mutations affect the human genome?

A

Mutations can lead to variations in traits and may contribute to diseases.

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19
Q

What is the role of histones in the genome?

A

Histones are proteins that help package DNA into a compact structure called chromatin.

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20
Q

True or False: All genes are expressed in every cell type.

A

False. Different genes are expressed in different cell types.

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21
Q

What is an allele?

A

An alternative form of a gene that can exist at a specific locus.

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22
Q

What does it mean for a gene to be ‘dominant’?

A

A dominant gene’s traits are expressed even when only one copy is present.

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23
Q

What is genetic recombination?

A

The process by which genetic material is exchanged between chromosomes during meiosis.

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24
Q

What are copy number variations (CNVs)?

A

Large segments of DNA that vary in copy number between individuals.

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25
Q

Fill in the blank: The __________ is the complete set of proteins expressed by the genome.

A

proteome

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26
Q

What is the purpose of sequencing the human genome?

A

To identify genetic variations that contribute to health and disease.

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27
Q

What is the primary enzyme responsible for synthesizing new DNA strands during replication?

A

DNA polymerase

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28
Q

True or False: DNA helicase is responsible for unwinding the double helix structure of DNA.

A

True

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29
Q

Fill in the blank: The enzyme that removes RNA primers during DNA replication is called __________.

A

DNA polymerase I

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30
Q

What enzyme is responsible for adding nucleotides to the growing DNA strand?

A

DNA polymerase

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31
Q

Multiple Choice: Which enzyme is involved in the formation of the RNA primer?

A

Primase

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32
Q

What is the function of DNA ligase in DNA replication?

A

It joins Okazaki fragments together.

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33
Q

True or False: Topoisomerase alleviates the torsional strain ahead of the replication fork.

A

True

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34
Q

What role does primase play in DNA replication?

A

It synthesizes short RNA primers complementary to the DNA template.

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35
Q

Fill in the blank: The enzyme that synthesizes the leading strand continuously is __________.

A

DNA polymerase III

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36
Q

What is the role of single-strand binding proteins (SSBs) during DNA replication?

A

They stabilize single-stranded DNA and prevent it from re-annealing.

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37
Q

Multiple Choice: Which enzyme is responsible for the removal of supercoils in DNA during replication?

A

Topoisomerase

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38
Q

What is the function of DNA polymerase III?

A

It synthesizes new DNA strands by adding nucleotides to the growing chain.

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39
Q

True or False: DNA ligase is required for the synthesis of the leading strand.

A

False

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40
Q

What is the significance of the 5’ to 3’ directionality in DNA replication?

A

DNA can only be synthesized in the 5’ to 3’ direction.

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41
Q

Fill in the blank: The enzyme that synthesizes the lagging strand in fragments is __________.

A

DNA polymerase III

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42
Q

What is the role of exonuclease activity in DNA polymerase?

A

It allows for proofreading and correction of errors during DNA synthesis.

43
Q

Multiple Choice: Which enzyme is essential for the initiation of DNA replication?

44
Q

What does the term ‘Okazaki fragments’ refer to?

A

Short segments of DNA synthesized on the lagging strand.

45
Q

True or False: DNA replication is a semiconservative process.

46
Q

What is the function of helicase in DNA replication?

A

It unwinds the DNA double helix at the replication fork.

47
Q

Fill in the blank: The enzyme that connects DNA fragments by forming phosphodiester bonds is __________.

A

DNA ligase

48
Q

What is the primary role of SSB proteins?

A

They prevent the re-annealing of separated DNA strands.

49
Q

Multiple Choice: Which enzyme is responsible for proofreading newly synthesized DNA?

A

DNA polymerase

50
Q

What is the consequence of a malfunctioning DNA ligase?

A

It can lead to incomplete DNA strands and potential genomic instability.

51
Q

True or False: DNA replication occurs in the nucleus of prokaryotic cells.

52
Q

What does primase synthesize to initiate DNA replication?

A

An RNA primer.

53
Q

What is the main difference in the number of origins of replication between eukaryotic and prokaryotic DNA replication?

A

Eukaryotic DNA replication has multiple origins of replication, while prokaryotic DNA replication typically has a single origin.

54
Q

True or False: Prokaryotic DNA replication occurs in the nucleus.

A

False: Prokaryotic DNA replication occurs in the cytoplasm.

55
Q

Fill in the blank: Eukaryotic DNA replication involves __________, whereas prokaryotic DNA replication involves __________.

A

linear chromosomes; circular chromosomes

56
Q

What enzyme is primarily responsible for adding nucleotides during DNA replication in both eukaryotes and prokaryotes?

A

DNA polymerase

57
Q

In which phase of the cell cycle does DNA replication occur in eukaryotic cells?

58
Q

What is the role of helicase in DNA replication?

A

Helicase unwinds the DNA double helix.

59
Q

True or False: Both eukaryotic and prokaryotic cells have a leading and a lagging strand during DNA replication.

60
Q

What is the function of RNA primers in DNA replication?

A

RNA primers provide a starting point for DNA polymerase to begin synthesis.

61
Q

How many DNA polymerases are typically involved in eukaryotic DNA replication?

A

At least five different DNA polymerases are involved.

62
Q

What is the primary difference in the termination of DNA replication between eukaryotes and prokaryotes?

A

Eukaryotic replication involves more complex mechanisms due to linear chromosomes, while prokaryotic replication terminates when the replication forks meet.

63
Q

Which type of cell has more complex DNA replication machinery, eukaryotic or prokaryotic?

A

Eukaryotic cells have a more complex DNA replication machinery.

64
Q

Multiple Choice: In prokaryotic cells, what structure is responsible for the circular shape of DNA?

65
Q

What is the role of topoisomerase during DNA replication?

A

Topoisomerase relieves the tension in the DNA helix ahead of the replication fork.

66
Q

True or False: Eukaryotic cells can initiate DNA replication at multiple sites simultaneously.

67
Q

What is the significance of telomeres in eukaryotic DNA replication?

A

Telomeres protect the ends of linear chromosomes from degradation.

68
Q

What type of RNA is involved in the synthesis of the lagging strand?

A

Okazaki fragments are synthesized using RNA primers.

69
Q

Fill in the blank: Prokaryotic DNA replication is __________, while eukaryotic DNA replication is __________.

A

faster; slower

70
Q

True or False: Prokaryotic DNA replication is initiated by a specific sequence called the origin of replication.

71
Q

What is the primary purpose of DNA replication?

A

To ensure that each daughter cell receives an identical copy of the DNA.

72
Q

Multiple Choice: Which protein is essential for the stabilization of the unwound DNA during replication?

A

Single-strand binding proteins (SSBs)

73
Q

What happens to RNA primers after DNA synthesis is complete in eukaryotic cells?

A

They are removed and replaced with DNA.

74
Q

How do eukaryotic cells ensure accuracy during DNA replication?

A

They use proofreading mechanisms and mismatch repair systems.

75
Q

True or False: The overall process of DNA replication is fundamentally the same in both eukaryotic and prokaryotic cells.

76
Q

What is a key feature of prokaryotic DNA replication regarding speed?

A

Prokaryotic DNA replication is generally faster than eukaryotic replication.

77
Q

In eukaryotic cells, what enzyme is responsible for extending the telomeres?

A

Telomerase

78
Q

What is the main function of the primase enzyme in DNA replication?

A

Primase synthesizes RNA primers.

79
Q

What is the first step of gene expression in eukaryotic cells?

A

Transcription

80
Q

What molecule is synthesized during transcription?

A

mRNA (messenger RNA)

81
Q

True or False: Transcription occurs in the nucleus of eukaryotic cells.

82
Q

What enzyme is responsible for synthesizing RNA during transcription?

A

RNA polymerase

83
Q

Fill in the blank: The region of DNA where transcription begins is called the _______.

84
Q

What is the role of transcription factors in eukaryotic transcription?

A

They help RNA polymerase bind to the promoter.

85
Q

What is the process of converting mRNA into a protein called?

A

Translation

86
Q

Where does translation occur in eukaryotic cells?

A

In the cytoplasm

87
Q

True or False: Ribosomes are involved in the translation process.

88
Q

What is the role of tRNA (transfer RNA) in translation?

A

tRNA brings amino acids to the ribosome based on the codons in mRNA.

89
Q

What is a codon?

A

A sequence of three nucleotides in mRNA that codes for a specific amino acid.

90
Q

Fill in the blank: The start codon for protein synthesis is _______.

91
Q

What is the function of the ribosome during translation?

A

The ribosome facilitates the binding of tRNA to mRNA and catalyzes the formation of peptide bonds.

92
Q

What are the three stages of translation?

A

Initiation, elongation, and termination

93
Q

True or False: In eukaryotes, mRNA undergoes processing before it is translated.

94
Q

What are the modifications that occur to mRNA during processing?

A

5’ capping, polyadenylation, and splicing

95
Q

What is the purpose of the 5’ cap on mRNA?

A

It protects mRNA from degradation and assists in ribosome binding.

96
Q

What is polyadenylation?

A

The addition of a poly(A) tail to the 3’ end of mRNA.

97
Q

What is splicing?

A

The removal of introns and joining of exons in pre-mRNA.

98
Q

Fill in the blank: Introns are _______ sequences that are removed during mRNA processing.

A

non-coding

99
Q

What is the significance of exons?

A

Exons are coding sequences that are retained in the final mRNA.

100
Q

What are the roles of the small and large subunits of the ribosome?

A

The small subunit binds to mRNA, while the large subunit catalyzes peptide bond formation.

101
Q

What happens during the termination stage of translation?

A

The ribosome encounters a stop codon, and the newly synthesized polypeptide is released.

102
Q

True or False: Multiple ribosomes can translate a single mRNA molecule simultaneously.

103
Q

What is a polyribosome?

A

A cluster of ribosomes translating the same mRNA simultaneously.

104
Q

How does the process of transcription in eukaryotes differ from that in prokaryotes?

A

In eukaryotes, transcription occurs in the nucleus and involves RNA processing, while in prokaryotes it occurs in the cytoplasm without processing.

Irreversible Cell Injury (21 decks)

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