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Genetics > L21-23 Vertebrate Developmental Biology & Congenital Malformations > Flashcards

L21-23 Vertebrate Developmental Biology & Congenital Malformations Flashcards

1
Q

Morphogenesis

A

The development of morphological characteristics (i.e. shape)

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2
Q

Axis formation is the establishment of the…

A

Body plan

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3
Q

An organism has 3 key axes…

A
  1. Anterior - Posterior 🐥
  2. Dorsal - Ventral ↕
  3. Left - Right ↔
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4
Q

Key genes involved in body axis formation in humans are…

A

Hox (homeobox-containing) genes

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5
Q

Long range signalling important to development occurs via…

A

Paracrine signalling

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6
Q

The embryo is patterned by long range signal molecules known as…

A

Morphogens (which activate Hox genes)

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7
Q

Morphogens control the position of…

A

Specialised cell types

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8
Q

Different genes are activated at different…

A

Concentrations (of signalling molecule)

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9
Q

Morphogens move by…

A

Passive diffusion

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10
Q

The Bicoid gradient in fruit flies establishes…

A

Anterior - posterior polarity

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11
Q

Vertebrates are:

a) Bilaterally symmetric
b) Bilaterally asymmetric
c) Multilaterally symmetric
d) None of the above

A

b) Bilaterally asymmetric

Left and right sides are not identical (e.g. internal organs)

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12
Q

Left-right axis formation occurs due to the specific activation of signalling pathways on only the ( left / right ) side

A

Left

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13
Q

Signal molecules are wafted from right to left by…

A

Cillia 🌬

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14
Q

Disturbed laterality can have severe consequences, except when…

A

Laterality is simply reversed 🙂🙃

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15
Q

Hox 6 is the signal for ‘make ribs’, whereas Hox 10 signals ‘stop ribs!’. In snakes, which of these genes is inactive?

A

Hox 10 🐍

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16
Q

The same morphogens (signalling molecules) pattern…

A

Different parts of the embryo

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17
Q

The apical ectodermal ridge (AER) is critical to…

A

Limb development

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18
Q

The importance of AER can be seen in Thalidomide affected babies…

A

Thalidomide destroys AER, resulting in disrupted limb development

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19
Q

The AER produces growth but doesn’t specify…

A

The type of growth (i.e. what will grow)

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20
Q

Dorsal - ventral patterning is:

a) comparatively simple
b) highly complex
c) absent in humans
d) absent in mammals
e) disrupted by Thalidomide

A

b) highly complex

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21
Q

Dorsal - ventral patterning is involved with the formation of the (2)…

A

Spinal cord and brain 🧠

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22
Q

Developmental biology can help us to understand:

a) Growth and differentiation
b) Morphogenesis
c) Congenital malformations
d) Initiation and construction
e) All of the above

A

e) All of the above!

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23
Q

Human lifecycles feature a period of development which is relatively…

A

Long

24
Q

Development is…

A

The period between fertilisation and birth

25
Q

An embryo is…

A

The developing organism

26
Q

The fetus is…

A

The developing organism once fully formed

27
Q

Three approaches to studying development…

A
  1. Anatomical
    (what do things look like? how are cells positioned properly, and which cells go on to form mature structures, e.g. arms)
  2. Manipulation
    (removal, transplant or drugs to interfere with development)
  3. Genetic
    (how do genes control development? how different genes integrate instructions and how specific mutations lead to congenital malformations and disease)
28
Q

Model organisms can be used to understand development in humans as the…

A

Important genes to development are conserved between organisms

29
Q

Nomenclature of genes usually reflects…

A

The effect of their dysfunction in the mutant

30
Q

5 animal models for studying development

A
  1. Drosophila
  2. Zebrafish
  3. Amphibians
  4. Chickens and quail
  5. Mice
31
Q

Why do we need animal models?

A
  • We can’t experiment on humans 🙅‍♀️

* Cell cultures can’t model disease processes or development or ageing etc.

32
Q

In the future animal models may be replaced by…

A

Human organoids

33
Q

Human organoids are…

A

3D self-organised cell cultures derived from stem cells. They could be used for research, drug testing and organ replacement therapy

34
Q

What makes a good model organism? (6)

A 
☑️Sequenced genome
☑️Anatomical resemblance
☑️ Rapid development
☑️High fecundity (lots of offspring)
☑️Easy to manipulate and modify genetically
☑️Readily available
35
Q

Choosing a model organism depends on…

A

The question being investigated. Relevant factors to consider include:

  • Time span
  • Manipulation
  • Similarity to humans
  • Ethics
  • Costs
36
Q

Drosophila have large and easy to access…

a) Bodies
b) Genes
c) Larvae
d) Bank accounts

A

c) Larvae

This makes them useful for studying development

37
Q

The study of abnormal development tells us about…

A

Normal development

38
Q

Zebrafish regenerate…

A

Many body parts

39
Q

Zebrafish embryos are useful as they are…

A

Transparent and can develop outside the mother’s body

40
Q

Zebrafish have many advantages as a model organism. However, they cannot be used to study…

A

Lung development

41
Q

Amphibian embryos are…

A

Big and easy to manipulate

42
Q

Amphibians have ( longer / shorter ) lifecycles than zebrafish

A

Longer 👴🏼

43
Q

Amphibians are ( more / less ) expensive than zebrafish

A

More $$$

44
Q

Which of the following is not true of chicken and quail as developmental models?

a) Large, accessible eggs
b) Anatomically similar to mammals
c) Easy to manipulate
d) Short lifecycle

A

d) Short lifecycle

Their lifecycle is long compared with other model organisms

45
Q

What are the main disadvantages of mice as model organisms for studying development?

A

☹ Difficult to manipulate (young are gestated)
☹ Expensive
☹ Ethical issues (vertebrate mammals)

46
Q

The organism of choice for most development studies is…

  1. Zebrafish
  2. Chimpanzee
  3. Mice
  4. Chicken or quail
  5. Yeast
  6. Drosophila
  7. Amphibians
  8. Grapefruits
A
  1. Mice 🐭
47
Q

Congenital malformations are malformations which are…

A

Already present at birth

48
Q

Most congenital malformations occur:

a) after birth
b) first trimester
c) second trimester
d) third trimester

A

b) first trimester

Usually within the first 10 weeks during embryogenesis

49
Q

Congenital malformations result from the disruption of…

A

Normal development

50
Q

Congenital malformations have causes that are both…

A

Genetic and/or environmental

51
Q

Genetic causes of congenital malformations include (4)…

A
  • Single genes
  • Multi-gene interactions
  • Chromosome defects
  • Syndromes (combinations)
52
Q

Environmental causes of congenital malformations include (5)…

A
  • Drugs (prescription or recreational)
  • Maternal diabetes
  • Pollution
  • Dietary deficiencies or excesses
  • Fever
53
Q

Under the anatomical approach, congenital malformations can be studied using (2)…

A

Histology and observing gross morphology

54
Q

A genetic approach to studying congenital malformations may involve (4)…

A
  • Visualising mRNA or proteins
  • Observing levels of gene expression (qPCR, western blot)
  • Disruption (knockout, knockdown)
  • Ectopic expression (knockins, transgenes)
55
Q

Lp (loop tail) mouse has…

A

Neural tube defects

56
Q

Lp mouse is a model for…

A

Spina bifida in humans

Genetics (19 decks)

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