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
Fill in the blank: The __________ is the complete set of proteins expressed by the genome.
proteome
26
What is the purpose of sequencing the human genome?
To identify genetic variations that contribute to health and disease.
27
What is the primary enzyme responsible for synthesizing new DNA strands during replication?
DNA polymerase
28
True or False: DNA helicase is responsible for unwinding the double helix structure of DNA.
True
29
Fill in the blank: The enzyme that removes RNA primers during DNA replication is called __________.
DNA polymerase I
30
What enzyme is responsible for adding nucleotides to the growing DNA strand?
DNA polymerase
31
Multiple Choice: Which enzyme is involved in the formation of the RNA primer?
Primase
32
What is the function of DNA ligase in DNA replication?
It joins Okazaki fragments together.
33
True or False: Topoisomerase alleviates the torsional strain ahead of the replication fork.
True
34
What role does primase play in DNA replication?
It synthesizes short RNA primers complementary to the DNA template.
35
Fill in the blank: The enzyme that synthesizes the leading strand continuously is __________.
DNA polymerase III
36
What is the role of single-strand binding proteins (SSBs) during DNA replication?
They stabilize single-stranded DNA and prevent it from re-annealing.
37
Multiple Choice: Which enzyme is responsible for the removal of supercoils in DNA during replication?
Topoisomerase
38
What is the function of DNA polymerase III?
It synthesizes new DNA strands by adding nucleotides to the growing chain.
39
True or False: DNA ligase is required for the synthesis of the leading strand.
False
40
What is the significance of the 5' to 3' directionality in DNA replication?
DNA can only be synthesized in the 5' to 3' direction.
41
Fill in the blank: The enzyme that synthesizes the lagging strand in fragments is __________.
DNA polymerase III
42
What is the role of exonuclease activity in DNA polymerase?
It allows for proofreading and correction of errors during DNA synthesis.
43
Multiple Choice: Which enzyme is essential for the initiation of DNA replication?
Primase
44
What does the term 'Okazaki fragments' refer to?
Short segments of DNA synthesized on the lagging strand.
45
True or False: DNA replication is a semiconservative process.
True
46
What is the function of helicase in DNA replication?
It unwinds the DNA double helix at the replication fork.
47
Fill in the blank: The enzyme that connects DNA fragments by forming phosphodiester bonds is __________.
DNA ligase
48
What is the primary role of SSB proteins?
They prevent the re-annealing of separated DNA strands.
49
Multiple Choice: Which enzyme is responsible for proofreading newly synthesized DNA?
DNA polymerase
50
What is the consequence of a malfunctioning DNA ligase?
It can lead to incomplete DNA strands and potential genomic instability.
51
True or False: DNA replication occurs in the nucleus of prokaryotic cells.
False
52
What does primase synthesize to initiate DNA replication?
An RNA primer.
53
What is the main difference in the number of origins of replication between eukaryotic and prokaryotic DNA replication?
Eukaryotic DNA replication has multiple origins of replication, while prokaryotic DNA replication typically has a single origin.
54
True or False: Prokaryotic DNA replication occurs in the nucleus.
False: Prokaryotic DNA replication occurs in the cytoplasm.
55
Fill in the blank: Eukaryotic DNA replication involves __________, whereas prokaryotic DNA replication involves __________.
linear chromosomes; circular chromosomes
56
What enzyme is primarily responsible for adding nucleotides during DNA replication in both eukaryotes and prokaryotes?
DNA polymerase
57
In which phase of the cell cycle does DNA replication occur in eukaryotic cells?
S phase
58
What is the role of helicase in DNA replication?
Helicase unwinds the DNA double helix.
59
True or False: Both eukaryotic and prokaryotic cells have a leading and a lagging strand during DNA replication.
True
60
What is the function of RNA primers in DNA replication?
RNA primers provide a starting point for DNA polymerase to begin synthesis.
61
How many DNA polymerases are typically involved in eukaryotic DNA replication?
At least five different DNA polymerases are involved.
62
What is the primary difference in the termination of DNA replication between eukaryotes and prokaryotes?
Eukaryotic replication involves more complex mechanisms due to linear chromosomes, while prokaryotic replication terminates when the replication forks meet.
63
Which type of cell has more complex DNA replication machinery, eukaryotic or prokaryotic?
Eukaryotic cells have a more complex DNA replication machinery.
64
Multiple Choice: In prokaryotic cells, what structure is responsible for the circular shape of DNA?
Plasmid
65
What is the role of topoisomerase during DNA replication?
Topoisomerase relieves the tension in the DNA helix ahead of the replication fork.
66
True or False: Eukaryotic cells can initiate DNA replication at multiple sites simultaneously.
True
67
What is the significance of telomeres in eukaryotic DNA replication?
Telomeres protect the ends of linear chromosomes from degradation.
68
What type of RNA is involved in the synthesis of the lagging strand?
Okazaki fragments are synthesized using RNA primers.
69
Fill in the blank: Prokaryotic DNA replication is __________, while eukaryotic DNA replication is __________.
faster; slower
70
True or False: Prokaryotic DNA replication is initiated by a specific sequence called the origin of replication.
True
71
What is the primary purpose of DNA replication?
To ensure that each daughter cell receives an identical copy of the DNA.
72
Multiple Choice: Which protein is essential for the stabilization of the unwound DNA during replication?
Single-strand binding proteins (SSBs)
73
What happens to RNA primers after DNA synthesis is complete in eukaryotic cells?
They are removed and replaced with DNA.
74
How do eukaryotic cells ensure accuracy during DNA replication?
They use proofreading mechanisms and mismatch repair systems.
75
True or False: The overall process of DNA replication is fundamentally the same in both eukaryotic and prokaryotic cells.
True
76
What is a key feature of prokaryotic DNA replication regarding speed?
Prokaryotic DNA replication is generally faster than eukaryotic replication.
77
In eukaryotic cells, what enzyme is responsible for extending the telomeres?
Telomerase
78
What is the main function of the primase enzyme in DNA replication?
Primase synthesizes RNA primers.
79
What is the first step of gene expression in eukaryotic cells?
Transcription
80
What molecule is synthesized during transcription?
mRNA (messenger RNA)
81
True or False: Transcription occurs in the nucleus of eukaryotic cells.
True
82
What enzyme is responsible for synthesizing RNA during transcription?
RNA polymerase
83
Fill in the blank: The region of DNA where transcription begins is called the _______.
promoter
84
What is the role of transcription factors in eukaryotic transcription?
They help RNA polymerase bind to the promoter.
85
What is the process of converting mRNA into a protein called?
Translation
86
Where does translation occur in eukaryotic cells?
In the cytoplasm
87
True or False: Ribosomes are involved in the translation process.
True
88
What is the role of tRNA (transfer RNA) in translation?
tRNA brings amino acids to the ribosome based on the codons in mRNA.
89
What is a codon?
A sequence of three nucleotides in mRNA that codes for a specific amino acid.
90
Fill in the blank: The start codon for protein synthesis is _______.
AUG
91
What is the function of the ribosome during translation?
The ribosome facilitates the binding of tRNA to mRNA and catalyzes the formation of peptide bonds.
92
What are the three stages of translation?
Initiation, elongation, and termination
93
True or False: In eukaryotes, mRNA undergoes processing before it is translated.
True
94
What are the modifications that occur to mRNA during processing?
5' capping, polyadenylation, and splicing
95
What is the purpose of the 5' cap on mRNA?
It protects mRNA from degradation and assists in ribosome binding.
96
What is polyadenylation?
The addition of a poly(A) tail to the 3' end of mRNA.
97
What is splicing?
The removal of introns and joining of exons in pre-mRNA.
98
Fill in the blank: Introns are _______ sequences that are removed during mRNA processing.
non-coding
99
What is the significance of exons?
Exons are coding sequences that are retained in the final mRNA.
100
What are the roles of the small and large subunits of the ribosome?
The small subunit binds to mRNA, while the large subunit catalyzes peptide bond formation.
101
What happens during the termination stage of translation?
The ribosome encounters a stop codon, and the newly synthesized polypeptide is released.
102
True or False: Multiple ribosomes can translate a single mRNA molecule simultaneously.
True
103
What is a polyribosome?
A cluster of ribosomes translating the same mRNA simultaneously.
104
How does the process of transcription in eukaryotes differ from that in prokaryotes?
In eukaryotes, transcription occurs in the nucleus and involves RNA processing, while in prokaryotes it occurs in the cytoplasm without processing.