Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Genetics > L21-23: Developmental Genetics > Flashcards

L21-23: Developmental Genetics Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

What is developmental biology?

A

The study of the process by which organisms grow and develop
Focuses on growth, differentiation and morphogenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Why is developmental biology important?

A

To understand congenital malformations and diseases and understanding regeneration, repair, aging and cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is development in mammals?

A

The period between fertilisation and birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the developing organism known as?

A

An embryo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What does the study of developmental biology focus on?

A

The initiation and construction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Where does most organogenesis occur?

A

During embryogenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Where do most congenital anomalies take place?

A

In the first 8 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the 3 general approaches to studying development?

A

Anatomical
Physical
Genetic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is a model organism?

A

A well established experimental biological system

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Which gene in the eye can be studied to find functionality?

A

The Pax6 gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the oldest know bilaterian?

A

The Ikaria wariootia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Which genes are focused on in Drosophila?

A

Homeotic selector genes (Homeobox genes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is temporo-spatial collinearity?

A

When genes are expressed in chronological order

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Why is Drosophila useful?

A

-Genome sequenced
-Genes have some homologues in mammals
-Many mutants available
-Short life cycle
-Easily accessed larvae
-Allowed the understanding of basic gene networks that regulate early body plan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How can we find what a gene does?

A

By removing it

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Why are zebrafish useful?

A

-Genome sequenced
-Fundamental developmental processes similar to mammals
-Easy to manipulate genetically
-Easily to manipulate experimentally
-Regenerates body parts
-Transparent embryos

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Why are amphibians useful?

A

-Have large embryos to be easily manipulated
-More similar anatomically to mammals than files/fish
-Capable of regenerating body parts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Why are birds useful?

A

-Large accessible eggs
-Easy to manipulate and image
-Anatomically similar to mammals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is a disadvantage of using birds as a model?

A

They have complex genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Why are mice useful?

A

-Genome sequenced
-Similar to human
-Large number of mutants available
-Possible to manipulate genome
-Relatively rapid life cycle
-Model of choice for most developmental genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are the disadvantages of using mice as a model?

A

-Difficult to physically manipulate
-Relatively affordable

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What genetic tools are available for use?

A

-Morpholinos (siRNA)
-Chemical mutagenesis
-Transgenesis (transient)
-Transgenesis (germline)
-Single gene knockout and knockins
-Conditional gene knockouts
-CRISPR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Why are animal models essential?

A

-Cannot experiment on humans
-Cannot model disease processes in cell culture
-Cannot test toxicity of new drugs/ disease treatment in cell culture
-Cannot model complex development/ aging processes in cell culture

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What would be advantages to using humans as a model?

A

-Have genetic disease kindreds
-Many tools available for identifying disease genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What are disadvantages to using humans as models?

A

-Cannot genetically manipulate (ethical!!)
-Complex genetics
-Limited access to human embryos

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What are organoids?

A

Self-organising three-dimensional cell cultures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Where were organoids derived from?

A

Pluripotent stem cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What are the main functions for organoids?

A

They are used to recapitulate early stages of development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What are the key characteristics for a good model for developmental genetics research?

A

-Sequenced genome
-Anatomically resembles human
-Rapid rate of development to maturity
-Large number of offspring
-Easily manipulated and genetically tracible
-Readily available

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

When does patterning occur?

A

Early in development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is morphogenesis?

A

The emergence of form, the process by which an organism/structure beings to develop 3D form

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the 3 fundamental processes in developmental biology?

A

Morphogenesis
Differentiation
Growth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is axis formation?

A

The establishment of body plan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is a body plan?

A

The map of an organism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

How many axis are crucial to the foundation of the body?

A

3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are the 3 crucial axes of the body?

A

-Antero-posterior
-Dorso-ventral
Left-right

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is body axis dependent on?

A

Different parts of the embryo becoming distinct

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What are examples of long range signalling molecules required in embryos?

A

Hedgehog, Wnt and TGFbeta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What is an example of a short range signalling molecule required in embryos?

A

Notch

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What determines genes being activated in long range signalling?

A

The type of signal and how strongly it binds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What are the 4 components to cell signalling?

A

-Release and transmission of a signal by source cell
-Reception of the signal by the target cell
-Transduction of the signal
-Cellular response - requires activation/repression of gene expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is used to pattern the embryo?

A

Growth factors (morphogens)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

How do morphogens work?

A

Form gradients as they diffuse which activates different genes at different concentrations and determines specific characteristics

44
Q

What is the first step to establish Anterior-posterior polarity in flies?

A

A gradient of bicoid

45
Q

How do morphogens achieve long range signalling in cellularised tissues?

A

-Different mechanisms suggested
-Diffusion over long distances
-Relay from cell to cell
-Cellular extensions
-Not mutually exclusive (different morphogens, different mechanisms)

46
Q

What is the sonic hedgehog signalling?

A

It is a crucial vertebrate morphogen

47
Q

What are the signalling centres in early mammalian embryos?

A

-Anterior visceral endoderm (AVE) - first, patterns anterior part of embryo
-Node - patterns whole embryo, works cooperatively with AVE at anterior

48
Q

Where does the breaking of symmetry first take place?

A

At the node

49
Q

Which organs differ from left to right?

A

Left - heart, stomach, spleen
Right - liver
Lungs have different number of nodes

50
Q

What is the L-R signalling pathway?

A

-Initiated at the node
-Morphogens secreted
-Nodal signalling activated on left side of embryo
-Nodal activates Pitx2 regulating downstream gene expression
-organ specific process when enough Pitx2 governing asymmetric organ development

51
Q

What is the function of the Pitx2 gene?

A

Regulates downstream gene expression

52
Q

What does the L-R signalling pathway suggest?

A

That the right side is default

53
Q

How does Shh (sonic hedgehog signalling) act in L-R signalling?

A

it acts at the midline barrier to stop left signals getting to the right

54
Q

What tools were used to teach L-R patterning?

A

Physical tools: inverting and transplanting the node
Genetic tools: Knockout Lefty-1/ Shh gene

55
Q

What are the consequences to the Nodal being on the left side?

A

The thorax becomes inverted (heart and lungs switch)

56
Q

What are the consequences to the nodal being on the right side?

A

The organs in the abdomen switch sides or both organs in the abdomen and in the thoracic cavity are switched

57
Q

What are the consequences to nodal being on both sides?

A

Left isomerism the organs on the left are mirrored in the right side

58
Q

What are the consequences of nodal being on neither side?

A

Right isomerism the organs on the right are mirrored in the left side

59
Q

Which morphogens pattern the AP axis?

A

-Wnt signals specify the anterior
-RA patterns the midbrain, hindbrain and trunk
-FGF gradient patterns the caudal region

60
Q

Which genes pattern the AP axis?

A

Hox

61
Q

How many Hox genes are there in mammals?

A

4

62
Q

How are the specific identities of AP patterned structures defined?

A

By homeobox-containing genes

63
Q

What happens to embryos when Hox6 is activated in ribless regions?

A

Extra ribs are found

64
Q

What happens when Hox10 is expressed in the regions ribs are located?

A

No ribs develop in the embryo

65
Q

What happens when the Hox10 gene is inactive?

A

Ribs become everywhere

66
Q

Which signals are contained in D-V patterning when neural tube is patterned?

A

BMP dorsal region
Shh ventral region

67
Q

Why is D-V patterning essential?

A

For normal development of the nervous system

68
Q

Where are limbs patterned?

A

In the proximal-distal axis

69
Q

Which structure is required for limb outgrowth?

A

Apical ectodermal ridge (AER)

70
Q

What is the result of disrupting Hox genes?

A

Digit patterning defects

71
Q

How does Thalidomide impact patterning?

A

It disrupts limb patterning by stopping the production of blood vessels which blocks proliferation and altering the expression of Shh, FGF and Hox genes

72
Q

Which transcription factor is degraded from Thalidomide?

A

Sall4

73
Q

What is the impact of Sall4 mutations?

A

Can cause Duane Radial Ray Syndrome

74
Q

What does Sall4 regulate?

A

Key growth factors and Hox genes in developing limbs

75
Q

What are congenital malformations?

A

Malformations that are already present at birthW

76
Q

hen do congenital malformations take place?

A

During embryogenesis

77
Q

Why do congenital anomalies take place?

A

As a result of disruption of normal development

78
Q

What environmental factors cause congenital malformations?

A

-Radiation
-Maternal diabetes
-Fever
-Prescription drugs
-Recreational drugs
-Pollutants
-Dietary deficiencies/ excesses

79
Q

What genetic factors cause congenital malformations?

A

-Chromosomal defects
-Syndromes
-Single genes
-Multi-gene interactions

80
Q

What is the anatomical approach?

A

The study of naturally occurring mutations in humans and animal models
Use histological techniques to study how defective structures are formed and how they end up

81
Q

What are the key methodologies for anatomy?

A

-Gross morphology
-Histology

82
Q

What is the process of histology?

A

-Embryo/tissues dehydrated
-Embedded in paraffin wax
-Thin slices cut
-Different tissues/cell types visualised

83
Q

What is the physical manipulation approach?

A

-It is based on the principle that understanding abnormal development tells us about normal development
-Manipulation of developing embryos used to ask specific questions and test hypotheses
-Common methodologies are physical and chemical

84
Q

What are the key methodologies for the physical manipulation approach?

A

-Removal of part of the embryo
-Replacing one part of an embryo with another
-Using a drug to interfere with a developmental process

85
Q

What is the genetic approach?

A

Studying the genes of the families with congenital malformations

86
Q

What are the key developmental genetic techniques?

A

-Visualisation of gene/protein expression
-Transcriptomic sequencing
-Measurement of levels of gene/protein expression
-Disruption of gene function (total and conditional knockout)
-Ectopic or “extra” gene expression (knockins, transgenes)

87
Q

What is gene expression analysis?

A

Shows when genes are active
Gives spatial and temporal information
Links genes to specific cell types, tissues/ organs

88
Q

What are methods for analysing gene expression?

A

-In situ hybridisation
-Immunohistochemistry (uses antibodies)
-Linkage of gene regulatory elements to a reporter gene

89
Q

What is the effect of knocking out a gene?

A

Shows the effect it has on the embryo

90
Q

What is an example of a knockout mouse?

A

CRISPR-Cas9

91
Q

What is the benefit of the CRISPR-Cas9 mouse?

A

Generates mutants faster, with higher efficiency and at a lower cost

92
Q

What are the different genetic manipulations that are possible?

A

Knockout of genes (shows what happens when function is deleted)
Single amino acid-substitution (allows reproduction of human mutations)
Floxed mice (allow knockout in defined spatio-temporal manner)

93
Q

What is gastrulation?

A

Where 3 germ layers are formed

94
Q

When does gastrulation take place?

A

In early development

95
Q

What is involved in gastrulation?

A

Cell signalling and cell movements

96
Q

What are the 3 different cell types developed during gastrulation?

A

Zygote, blastocyte and gastrula

97
Q

How can gastrulation be replicated?

A

During differentiation of stem cells

98
Q

What are the factors of neural tube defects (NTDs)?

A

-One of the most common congenital malformations
-~2/1000 live births
-300,000 babies born with NTD each year
-Multifactorial
-Caused by abnormalities in the normal process of neurulation

99
Q

What is the Lp mouse?

A

It is a model of severe neural tube defects

100
Q

What happens during NTDs?

A

Embryos are short and neural tube closure is not initiated, and there is a broadened floor plate

101
Q

How was it tested that the broad floor plate prevents the neural folds coming together?

A

The neural tube was tied together bringing the folds together which resulted in no neural tube closure

102
Q

What is the Lp gene known as in Drosophila?

A

Vangl2

103
Q

What is Vangl2 involved in?

A

It is a component of a signalling pathway (Wnt dependent pathway)
In flies, the pathway regulates position of cells in cuticle and in eye
Regulates the convergence-extension movements and gastrulation in vertebrates

104
Q

What is PCP signalling?

A

It takes place at gastrulation
By a process of cell intercalation
Results in the narrowing and lengthening of the embryo

105
Q

What is the result of defects in CE?

A

Prevents neural tube closure

106
Q

What are therapies of NTDs?

A

-Folic acid (not NTDs seen in Lps)
-B vitamin - inositol

107
Q
A

Genetics (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions