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Flashcards in Genetics of Development Deck (58):
1

A cell can be removed in what phase during pre-implantation diagnosis?

Morula

2

What is the first axis visible in the embryo?

anterior-posterior

3

What structure defines the anterior posterior axis?

primitive streak

4

What does the primitive streak mark?

Where ectodermal cells invade the space between the epiblast and the hypoblast

5

What does the ectoderm form?

skin and nervous system

6

What does mesoderm form?

bone, muscle and most internal organs

7

What will the endoderm form?

cells of the gut and lung epithelium

8

Where is the node located?

at the anterior end of the primitive streak

9

What is the function of noggin and chordin?

to induce dorsal development

10

Where are noggin and chordin released from?

the node

11

Where is Shh released from?

notochord

12

What is the function of Shh?

right/left asymmetry

13

What is situs inversus?

where internal organs are a mirror image of what is normally found

14

What is the condition called where the organs are randomized in their location?

situs ambiguus

15

What is situs ambiguus usually accompanied with?

heart defects

16

What is the function of the homeobox (HOX) genes?

patterning along the anterior/posterior axis

17

What is patterning?

determining what part of the embryo divides into specific parts

18

What are malformations?

an intrinsic abnormality in the developmental process

19

What do deformations result from?

extrinsic influence on the development of an organism

20

What do disruptions result from?

destruction of developing tissue

21

What is a sequence?

a cascade of events resulting from a single anomaly

22

What is a syndrome?

when all disease phenotypes are caused by a single defect

23

What do defects arising between 1-4 weeks development produce?

multiple organ abnormalities

VACTERL

24

What is a major risk factor for VACTERL defects?

maternal diabetes

25

What do abnormalities occurring from week 5 to 8 affect?

specific organs to produce specific anomalies

26

What are cells during the regulative phase?

functionally equivalent

27

A morula is in what phase of development?

regulative

28

A loss of a cell in the mosaic phase results in what?

loss of tissue the cell was destined to become

29

The primitive streak is formed by what type of cells?

Ectoderm

30

What is the first visible axis in the embryo?

anterior/posterior axis

31

What is the anterior/posterior axis defined by?

primitive streak

32

What two proteins are secreted from the node?

noggin and chordin

33

What are the functions of noggin and chordin?

induce dorsal development in a concentration dependent manner

34

Where is the node located?

anterior end of primitive streak

35

What protein is responsible for left/right asymmetry?

Shh

36

Where is Shh secreted from?

notochord

37

Asymmetric expression of Shh leads to left sided expression of what protein?

Nodal

38

A defect in left/right formation is referred to as what?

situs inversus

39

What describes a condition in which organs are randomized in their location?

situs ambiguus

40

Patterning along the anterior/posterior axis is controlled by what family of genes?

HOX

41

What causes malformations?

intrinsic abnormality

42

What causes deformations?

extrinsic influence

43

What causes disruptions?

result from the destruction of developing tissue

44

Isolated anomalies affect what?

a single body region

45

What is a sequence?

cascade of events starting from an anomaly

46

What do syndromes affect?

several body regions

47

What kind of inheritance do syndromes possess?

Mendelian

48

When do abnormalities that affect single organ systems originate?

week 5 to 8

49

Defects in the weeks of 1-4 can be characterized by what acronym?

VACTERL

50

What maternal behavior is a risk for VACTERL?

diabetes

51

In order, what is the order of the most common congenital malformations?

heart defects, pyloric stenosis, neural tube defects, orofacial clefts, clubfoot

52

Where is the node located?

anterior end of primitive streak

53

Where are noggin and chrodin secreted from? What is their function?

the node

induce dorsal development

54

Where is Shh secreted from? What is its function?

notochord

right/left development

55

What gene is required for the formation of the primitive streak?

Nodal

56

What two conditions can arise from defects in right/left development?

situs inversus and situs ambiguus

57

What is the function of the HOX genes?

to develop patterning along the anterior/posterior axis

58

What disease does the Philadelphia Chromosome cause?

acute myeloid leukemia