Developmental genetics

Question 1

developmental biology

Answer 1

study of process by which organisms grow and develop

Question 2

developmental genetics

Answer 2

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

Question 3

embryonic period

Answer 3

weeks 3-8

Question 4

fetal period

Answer 4

weeks 9-36

Question 5

3 approaches to development study

Answer 5

physical
anatomical
genetic

Question 6

Ikaria wariootia

Answer 6

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

Question 7

drosophilia advantages as a model

Answer 7

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

Question 8

zebra fish advantages as a model

Answer 8

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

Question 9

newt/ xenopus as model organisms

Answer 9

physical manipulation
large/ easily manipulated
anatomically similar
body part regeneration

Question 10

chicken/ quail as model organisms

Answer 10

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

Question 11

mouse as model organism

Answer 11

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

Question 12

genetic tools for model organisms

Answer 12

morpholinos
chemical mutagenesis
transgenesis
single gene knockouts/ knockins
CRISPR

Question 13

humans as model organisms

Answer 13

:) ideal
:( unethical/ complex

Question 14

human organoids as a model organism

Answer 14

abundant offspring
sequenced
resemblance to human
rapid development
accessible/ available

Question 15

3 processes of developmental bio

Answer 15

morphogenesis
differentiation
growth

Question 16

posterior

Answer 16

caudal

Question 17

anterior

Answer 17

rostral/ cranial

Question 18

long-range signaling / short-range signaling

Answer 18

via plasma-membrane bound molecules / secreted molecules

Question 19

how do genes activated affected cell signalling?

Answer 19

type of signal
binding strength
concentration

Question 20

4 components of cell signalling

Answer 20

release/ transmission of signal
reception
transduction
cellular response

Question 21

morphogen functions

Answer 21

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

Question 22

what establishes polarity in flies

Answer 22

bicoid gradient

Question 23

homeobox-containing genes function

Answer 23

specify identity of particular larvae regions

Question 24

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

Answer 24

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

Question 25

Shh

Answer 25

sonic hedgehog morphogen for vertebrates

Question 26

what does AVE stand for?

Answer 26

Anterior Visceral Endoderm

Question 27

what's the AVE?

Answer 27

signaling center appearing first and patterns only anterior part of embryo

Question 28

node

Answer 28

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

Question 29

Left-Right signaling pathway

Answer 29

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

Question 30

difference between right and left axis formation

Answer 30

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

Question 31

2 types of manipulation/ genetic tools

Answer 31

experimental genetic

Question 32

experimental tool example

Answer 32

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

Question 33

genetic tool example

Answer 33

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

Question 34

how is AP-axis patterned?

Answer 34

Numbe morphogens

Question 35

Wnt signals

Answer 35

pattern anterior region

Question 36

RA

Answer 36

patterns midbrain, hindbrain, trunk

Question 37

FGF

Answer 37

gradient patterns caudal region

Question 38

how many hox clusters in mammals

Answer 38

4 (1 in flies?)

Question 39

D-V patterning

Answer 39

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

Question 40

limb patterning

Answer 40

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

Question 41

genetic causes for congenital anomalies

Answer 41

chromosomal defects multigene interactions syndromes single genes

Question 42

environmental causes for congenital abnormalities

Answer 42

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

Question 43

anatomical approach for studying congenital anomalies

Answer 43

histological techniques complemented by genetic approach

Question 44

experimental manipulation approach

Answer 44

embryo part removal replacement of part of embryo drug interference

Question 45

methods for gene/protein expression visualisation

Answer 45

level measurement via qPCR/ Western Blotting

Question 46

genetic manipulation approaches

Answer 46

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

Question 47

gene expression analysis methods

Answer 47

in situ hybridization immunohistochemistry transgenesis

Question 48

difference between CRISPR-Cas9 and embryonic stem cell

Answer 48

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

Question 49

gastrulation

Answer 49

where 3 germ layers are formed

Question 50

3 germ layers

Answer 50

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

Question 51

how are organoids produced?

Answer 51

recapitulation of gastulation

Question 52

case report on neural tube defects

Answer 52

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

Question 53

Lp gene

Answer 53

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

Question 54

PCP pathway

Answer 54

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

Question 55

therapies for PCP pathway mutations

Answer 55

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