M1_genomics Flashcards
chap 1-3 (109 cards)
1
Q
What is the definition of a genome?
A
The complete set of instructions for creating an organism, encoded in DNA.
2
Q
What does genomics study?
A
The entire genome and how it interacts with the environment.
3
Q
What significant project aimed to read the entire human genome?
A
The Human Genome Project.
4
Q
What is copy number variation (CNV)?
A
Large segments of DNA that can be duplicated or deleted.
5
Q
What are the characteristics of genomics?
A
the study of an organism’s entire genome, encompassing all its DNA, including genes, regulatory regions, and non-coding DNA, and how these elements interact with each other and the environment.
It differs from genetics, which focuses on individual genes and their inheritance.
Genomics uses various techniques to analyze and understand genomes’ structure, function, evolution, and potential editing.
6
Q
What role do neurons play in the body?
A
Transmit signals to other neurons, muscles, and secretory cells.
7
Q
What are the four basic domains of neurons?
A
- Receive signals
- Process and integrate signals
- Conduct impulses
- Transmit signals
8
Q
What are electrical synapses?
A
Direct pores between two cells allowing rapid ion and electrical signal passage.
9
Q
What occurs at chemical synapses?
A
Neurotransmitters are released into the synaptic cleft and bind to receptors.
10
Q
True or False: Chemical synapses are faster than electrical synapses.
A
False.
11
Q
What is synaptic plasticity?
A
Changes in synapse strength or function in response to stimuli.
12
Q
What is the significance of DNA replication?
A
Ensures each new cell receives an exact copy of the genetic material.
13
Q
Fill in the blank: DNA consists of two complementary strands twisted into a _______.
A
double helix.
14
Q
What is the role of RNA polymerase in transcription?
A
Synthesizes a complementary strand of mRNA from DNA.
15
Q
What are the three types of RNA involved in protein synthesis?
A
- Messenger RNA (mRNA)
- Transfer RNA (tRNA)
- Ribosomal RNA (rRNA)
16
Q
What is a gene?
A
Each block of DNA that encodes for a single RNA or protein.
17
Q
What is the definition of neurotransmitters?
A
Chemicals synthesized and stored in neurons that transmit signals.
18
Q
What are ionotropic receptors?
A
Receptors that change permeability in response to neurotransmitter binding.
19
Q
What is the function of G-protein coupled receptors (GPCR)?
A
Detect extracellular signaling molecules and change cellular function.
20
Q
What is the importance of mRNA processing?
A
It produces a mature mRNA molecule ready for translation.
21
Q
What happens during translation?
A
Ribosomes read mRNA codons to assemble amino acids into proteins.
22
Q
What is the central dogma of molecular biology?
A
DNA is transcribed into mRNA, which is then translated into protein.
23
Q
What is cis-regulation in gene expression?
A
Regulation of gene expression conferred by the nucleotide sequence of DNA.
24
Q
What is the role of transfer RNA (tRNA)?
A
Brings the appropriate amino acids to the ribosome during translation.
25
What is the structure of GPCRs?
GPCRs are transmembrane proteins composed of a single polypeptide chain that spans the cell membrane seven times
## Footnote
They have an extracellular N-terminal domain and an intracellular C-terminal domain.
26
What role do ligands play in GPCR activation?
Ligands bind to the extracellular domain of GPCRs, triggering a conformational change that activates associated G proteins inside the cell.
27
What is the resting state of G proteins?
In the resting state, GDP is bound to the alpha subunit of G proteins.
28
What happens to G proteins upon receptor activation?
GDP is replaced by GTP, causing the alpha subunit and the beta-gamma dimer to dissociate and activate downstream signaling pathways.
29
List the four pharmacologically important G proteins.
* Gs (stimulatory)
* Gi (inhibitory)
* Go
* Gq
30
Describe the adenylyl cyclase pathway.
Gs proteins activate adenylyl cyclase, increasing cyclic AMP (cAMP) levels, which activate cAMP-dependent protein kinases.
31
What is the role of Gq proteins?
Gq proteins activate phospholipase C, leading to the production of diacylglycerol (DAG) and inositol triphosphate (IP3).
32
What is serotonin?
Serotonin is a monoamine neurotransmitter derived from the amino acid tryptophan.
33
Where are serotonin-producing neurons primarily located?
In the brainstem, specifically in clusters called the raphe nuclei.
34
What is the function of the serotonin transporter (SERT)?
SERT reabsorbs serotonin back into the presynaptic neuron, clearing it from the synaptic cleft.
35
What are the three types of ligands based on their action on receptors?
* Agonists
* Antagonists
* Inverse Agonists
* Allosteric Modulators (Neuromodulators)
36
What is the primary role of dopamine?
Dopamine is involved in motor control, reward, reinforcement, and various cognitive functions.
37
Where are dopaminergic neurons concentrated?
In the substantia nigra and the ventral tegmental area (VTA) of the midbrain.
38
List the major dopamine pathways.
* Nigrostriatal Pathway
* Mesolimbic Pathway
* Mesocortical Pathway
39
What is the function of the norepinephrine transporter?
It clears norepinephrine from the synaptic cleft by reabsorbing it into the presynaptic neuron.
40
What are the main types of adrenergic receptors for norepinephrine?
* Alpha-1
* Alpha-2
* Beta
41
What physiological response is associated with norepinephrine release?
The 'fight-or-flight' response, which includes increased heart rate and blood pressure.
42
What are the primary effects of serotonin in the body?
Regulation of mood and affective states, among other functions.
43
What is serotonin syndrome?
A condition characterized by altered mental state, autonomic dysfunction, and neuromuscular excitation.
44
What is the synthesis pathway of serotonin?
Tryptophan → 5-hydroxytryptophan (5-HTP) → Serotonin (5-HT).
45
What receptors are targeted by hallucinogenic drugs?
5-HT2a receptors.
46
True or False: Dopamine is classified as a catecholamine.
True
47
Fill in the blank: The neurotransmitter norepinephrine is also known as _______.
noradrenaline
48
What role does the 5-HT1a receptor play?
It is involved in major depressive disorder, anxiety disorders, and other psychological conditions.
49
Where is the locus coeruleus located?
In the pons and medulla of the central nervous system.
50
What is the function of the nigrostriatal pathway?
It is crucial for motor control.
51
List some conditions associated with dysregulation of dopamine.
* Parkinson's disease
* Addiction
* Schizophrenia
52
What neurotransmitter is primarily associated with arousal, alertness, and attention in the CNS?
Norepinephrine (NE)
## Footnote
Norepinephrine is linked to the 'fight-or-flight' response and influences cognitive functions.
53
Where are norepinephrine-producing neurons located?
Locus coeruleus
## Footnote
These neurons play a modulatory role in neuronal systems.
54
What is the role of corticotropin-releasing factor (CRF) in the norepinephrine system?
Key regulator
## Footnote
Overproduction of CRF can increase anxiety and depression.
55
What are the subtypes of alpha-adrenergic receptors?
* alpha-1a
* alpha-1b
* alpha-1d
* alpha-2a
* alpha-2b
* alpha-2c
## Footnote
These receptors mediate inhibitory effects.
56
Which neurotransmitter is primarily associated with the parasympathetic nervous system?
Acetylcholine (ACh)
## Footnote
ACh is involved in various physiological and neurological functions.
57
What enzyme breaks down acetylcholine in the synapse?
Acetylcholinesterase
## Footnote
This enzyme converts ACh into acetate and choline.
58
What are the two main families of acetylcholine receptors?
* Nicotinic receptors
* Muscarinic receptors
## Footnote
Nicotinic receptors are ionotropic, while muscarinic receptors are metabotropic.
59
What is the primary excitatory neurotransmitter in the CNS?
Glutamate
## Footnote
Glutamate is responsible for fast excitatory neurotransmission.
60
What are the three main types of ionotropic glutamate receptors?
* NMDA receptors
* AMPA receptors
* Kainate receptors
## Footnote
NMDA receptors are crucial for synaptic plasticity and memory.
61
What is the process by which glutamate is recycled in the brain?
Glutamate-glutamine cycle
## Footnote
Glutamate is converted to glutamine in glial cells and transported back to neurons.
62
What is the role of glycine in the central nervous system?
Co-agonist of NMDA receptor activation
## Footnote
Glycine acts as an inhibitory neurotransmitter in the CNS.
63
What is the primary inhibitory neurotransmitter in the CNS?
Gamma-aminobutyric acid (GABA)
## Footnote
GABA reduces neuronal excitability and is synthesized from glutamate.
64
What are the two main types of GABA receptors?
* GABA_A receptors
* GABA_B receptors
## Footnote
GABA_A receptors mediate fast inhibitory transmission, while GABA_B receptors are metabotropic.
65
What is the function of purinergic transmission?
Mediated by adenosine triphosphate (ATP)
## Footnote
It has regulatory roles and can exhibit both excitatory and inhibitory effects.
66
What is the role of opioids in the nervous system?
Bind to opioid receptors to relieve pain
## Footnote
Opioids also cause sedation, euphoria, and can lead to tolerance and withdrawal.
67
What neurotransmitter is involved in the fight-or-flight response?
Adrenaline
## Footnote
It increases heart rate and blood flow during stressful situations.
68
What neurotransmitter is primarily responsible for muscle contraction at neuromuscular junctions?
Acetylcholine (ACh)
## Footnote
ACh is crucial for neuromuscular transmission.
69
Fill in the blank: The _______ neurotransmitter plays a significant role in memory and learning.
Glutamate
## Footnote
Glutamate is the most abundant excitatory neurotransmitter.
70
Which neurotransmitter is associated with pleasure and reward?
Dopamine
## Footnote
Dopamine influences movement, memory, and motivation.
71
True or False: Increased GABA activity leads to excitatory effects.
False
## Footnote
GABA activity has calming effects and reduces neuronal excitability.
72
What is the mechanism of action for opioids in the brain?
Increase potassium conductance and inhibit calcium conductance
## Footnote
This reduces the likelihood of neuronal firing and neurotransmitter release.
73
What is the significance of neuropeptide signaling in psychiatric conditions?
Dysregulation is associated with various psychiatric conditions
## Footnote
Understanding neuropeptide effects is essential for insights into these disorders.
74
What neurotransmitter is released during pleasurable activities such as exercise and eating?
Endorphins
## Footnote
They help relieve pain, reduce stress, and improve the sense of well-being.
75
What is GABA and its primary function?
A chemical messenger that slows down the brain by blocking specific signals in the central nervous system.
76
What is the role of Glutamate in the brain?
It is the most abundant excitatory neurotransmitter and plays a major role in learning and memory.
77
What is the function of Noradrenaline?
It supports the fight-or-flight response by increasing heart rate and glucose levels.
78
What body functions does Serotonin influence?
Mood, sleep, digestion, nausea, wound healing, bone health, blood clotting, sexual desire.
79
What is the relationship between genetics and psychiatric conditions?
Most psychiatric conditions have a substantial genetic component.
80
What is the significance of a pedigree in understanding psychiatric conditions?
It provides insights into the genetic predisposition of psychiatric conditions.
81
What do adoption studies reveal in the nature vs. nurture debate?
They investigate whether risk for psychiatric disease depends more on biological or adoptive parents.
82
How do twin studies contribute to understanding genetic contributions to psychiatric disorders?
By comparing identical and fraternal twins, researchers estimate the heritability of various conditions.
83
What is the estimated heritability range for psychiatric conditions based on twin studies?
30%–80%.
84
What is a limitation of twin studies in estimating heritability?
They do not account for the complex interplay between genes and environment.
85
What is the focus of precision medicine as discussed by Matt Fox?
Identifying and treating the root genetic causes of disease.
86
What advances have allowed for detailed analysis of an individual's genome?
Advances in genetic sequencing technologies.
87
What does modeling and characterization of genetic variants help researchers understand?
How a mutation leads to disease.
88
What is the purpose of drug screening in the context of precision medicine?
To find drugs that specifically target dysfunctional pathways or proteins.
89
What is an example of a patient case discussed by Matt Fox?
Emma, whose rare neurological disease was traced to a specific genetic mutation.
90
What is an allele?
A variation in the DNA sequence at a particular polymorphic site on one chromosome.
91
What defines a homozygous genotype?
The alleles on both chromosomes are the same.
92
What is Copy Number Variation (CNV)?
Chromosomal regions where one or more genes are deleted or occur in multiple copies.
93
What are microsatellites?
Also called short tandem repeats (STRs) or variable number of tandem repeats (VNTRs).
94
What is a haplotype?
The sequence of alleles along adjacent polymorphic sites on a single chromosome.
95
What are insertion and deletion polymorphisms?
Microscopic insertions and deletions of one to hundreds of base pairs.
96
What are single-nucleotide polymorphisms (SNPs)?
Single base differences at a particular site in the genome.
97
What does 'incomplete penetrance' mean?
Some individuals with the disease allele(s) show symptoms while others do not.
98
What is pleiotropy?
One gene influences multiple, unrelated phenotypic traits.
99
True or False: Locus heterogeneity refers to variants in different genes leading to different disease phenotypes.
True.
100
True or False: Allelic heterogeneity refers to different patterns of variation within the same gene leading to similar disease phenotypes.
True.
101
True or False: Gene-by-environment interaction implies that a disorder manifests only in the context of predisposing genetic variants.
True.
102
True or False: Polygenic inheritance involves additive effects of variation in one gene.
False.
103
Which of the following are examples of epigenetic diseases? Select all that apply.
* Angelman syndrome
* Fragile X syndrome
* Prader-Willi syndrome
104
What is the human genome composed of?
About 3 billion bases distributed over 23 pairs of chromosomes.
105
What is a karyotype?
A technique that visualizes metaphase chromosomes using histological procedures.
106
What is the 22q11 deletion syndrome?
A condition where 1.5–3.0 million base pairs of DNA are missing on one copy of chromosome 22.
107
What genetic syndrome might John have if he has a deletion on one copy of 22q?
22q11 deletion syndrome.
108
How is the 22q11 deletion syndrome related to schizophrenia?
It has been identified as a cytogenetic risk factor for the development of schizophrenia.
109
What is the correlation of duplication of the 15q11-13 region in a patient with developmental delays?
Linked to autism spectrum disorder.
