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genetics semester 1 > Developmental genetics > Flashcards

Developmental genetics Flashcards

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Biology 101 flashcards
1
Q

developmental biology

A

study of process by which organisms grow and develop

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2
Q

developmental genetics

A

use of developmental bio knowledge/techniques to understand congenital anomalies and genetic disease

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3
Q

embryonic period

A

weeks 3-8

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4
Q

fetal period

A

weeks 9-36

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5
Q

3 approaches to development study

A

physical
anatomical
genetic

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6
Q

Ikaria wariootia

A

LUCA of drosophilia and humans
no limbs, eyes, heart
oldest known bilaterian

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7
Q

drosophilia advantages as a model

A
  • sequenced
    easily accessible
    large
    short life cycle
    most genes have homologues in mammals
    homeobox genes
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8
Q

zebra fish advantages as a model

A

transparent embryo
similar functioning to mammals
easily genetically manipulated (physical/ chemical manipulation experimental)
sequenced
can regenerate body parts

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9
Q

newt/ xenopus as model organisms

A

physical manipulation
large/ easily manipulated
anatomically similar
body part regeneration

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10
Q

chicken/ quail as model organisms

A

physical/ anatomical manipulation
large/ accessible
easily manipulated
anatomically similar
:( complex genetics

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11
Q

mouse as model organism

A

anatomical/ genetic manipulation
sequenced
many mutants
rapid life-cycle
genome manipulation (although physical is hard in utero)
:( expensive

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12
Q

genetic tools for model organisms

A

morpholinos
chemical mutagenesis
transgenesis
single gene knockouts/ knockins
CRISPR

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13
Q

humans as model organisms

A

:) ideal
:( unethical/ complex

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14
Q

human organoids as a model organism

A

abundant offspring
sequenced
resemblance to human
rapid development
accessible/ available

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15
Q

3 processes of developmental bio

A

morphogenesis
differentiation
growth

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16
Q

posterior

A

caudal

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17
Q

anterior

A

rostral/ cranial

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18
Q

long-range signaling / short-range signaling

A

via plasma-membrane bound molecules / secreted molecules

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19
Q

how do genes activated affected cell signalling?

A

type of signal
binding strength
concentration

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20
Q

4 components of cell signalling

A

release/ transmission of signal
reception
transduction
cellular response

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21
Q

morphogen functions

A

pattern embryo
position specialized cell-types in morphogenesis
secreted/diffusible in cellularised tissue

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22
Q

what establishes polarity in flies

A

bicoid gradient

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23
Q

homeobox-containing genes function

A

specify identity of particular larvae regions

24
Q

how do morphogens achieve long-range signaling in cell tissues?

A

restricted diffusion
planar transcytosis
lipoprotein transfer
cytoneme
(gradients/ cell-cell relay/ cellular extensions)
*not mutually exclusive

25
Q

Shh

A

sonic hedgehog morphogen for vertebrates

26
Q

what does AVE stand for?

A

Anterior Visceral Endoderm

27
Q

what’s the AVE?

A

signaling center appearing first and patterns only anterior part of embryo

28
Q

node

A

“organiser”
works co-operativewith AVE at anterior
patterns whole embryo
involves FGF/RA/Shh

29
Q

Left-Right signaling pathway

A
  1. node initiation
  2. secreted morphogen release
  3. nodal signaling activated on left
  4. activated Pitx2 homeobox gene regulates downstream expression
30
Q

difference between right and left axis formation

A

left is actively specified while right is default
not symmetrical
symmetry breaking occurs at node first

31
Q

2 types of manipulation/ genetic tools

A

experimental
genetic

32
Q

experimental tool example

A

transplant of node rotated 180 degrees in new host cause organ development on opposite side

33
Q

genetic tool example

A

knockout of left-1/Shh gene caused 2 left sides to grow

34
Q

how is AP-axis patterned?

A

Numbe morphogens

35
Q

Wnt signals

A

pattern anterior region

36
Q

RA

A

patterns midbrain, hindbrain, trunk

37
Q

FGF

A

gradient patterns caudal region

38
Q

how many hox clusters in mammals

A

4
(1 in flies?)

39
Q

D-V patterning

A

BMP patterns dorsal
Shh patterns ventral
opposing gradients of each specify neuronal sub-types, activating expression of homeobox genes

40
Q

limb patterning

A

patterned in proximal distal
hox gene disruptions affect digit patterning (e.g. thalidomide)

41
Q

genetic causes for congenital anomalies

A

chromosomal defects
multigene interactions
syndromes
single genes

42
Q

environmental causes for congenital abnormalities

A

maternal diabetes
fever
prescription drugs
recreational drugs
pollutants
dietary deficiencies/excess

43
Q

anatomical approach for studying congenital anomalies

A

histological techniques complemented by genetic approach

44
Q

experimental manipulation approach

A

embryo part removal
replacement of part of embryo
drug interference

45
Q

methods for gene/protein expression visualisation

A

level measurement via qPCR/ Western Blotting

46
Q

genetic manipulation approaches

A

gene/protein expression visualisation
gene function disruption
extopic
gene expression analysis

47
Q

gene expression analysis methods

A

in situ hybridization
immunohistochemistry
transgenesis

48
Q

difference between CRISPR-Cas9 and embryonic stem cell

A

CRISPR more efficient, lower cost, faster mutagenesis, no need for screening, produces guide RNA’s
ES cells have a chimeric stage, require screening

49
Q

gastrulation

A

where 3 germ layers are formed

50
Q

3 germ layers

A

mesoderm (middle)
endoderm (liver/pancreas)
ectoderm (brain/skin)

51
Q

how are organoids produced?

A

recapitulation of gastulation

52
Q

case report on neural tube defects

A

caused by abnormalities in neuralatin process
hypothesis: broad floor template prevents neural folds coming together
experimental/histological analysis had no effects

53
Q

Lp gene

A

component of cell signaling pathway
regulates cell positioning in cuticle/ eye and regulates convergence-extension movement in vertebrates

54
Q

PCP pathway

A

used repeatedly during development for cell polarity/ cell movement regulation
linked to cancer

55
Q

therapies for PCP pathway mutations

A

folic acid (prevents NTD)
B vitamin inositol (prevents NTD)

genetics semester 1 (6 decks)

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