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BMS109 Develpomental > Developmental Genetics > Flashcards

Developmental Genetics Flashcards

1
Q

What is brachyury gene required for

A

development of mesoderm

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2
Q

Brachyury is an example of which type of inheritance

A

incomplete dominance

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3
Q

What happens if an embryo is homozygous recessive for brachyury

A

dies

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4
Q

What diseases are caused by non-sense mutations

A

cystic fibrosis and Duchenne muscular dystrophy

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5
Q

What disease is caused by frameshift mutations

A

Tay-Sachs disease

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6
Q

Describe an anti-morphic mutation

A

dominant negative, mutant is unable to signal, acts as a competitive inhibitor

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7
Q

What do chemical mutagens affect

A

base pairing affinities

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8
Q

What sex is exposed to the mutagen

A

males

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9
Q

What is the function of treating organisms with mutagens

A

increase normal rate of mutation

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10
Q

What is KIT

A

transmembrane receptor for steel

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11
Q

What do kit & steel defects cause

A

coat pigmentation, anaemia and sterility

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12
Q

What is Steel

A

extracellular ligand

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13
Q

TRUE or FALSE - Kit & Steel work in the same molecular pathway

A

TRUE

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14
Q

What is the signalling of Kit & Steel required for

A

normal development of melanocytes, haematopoietic stem cells, and germ cells

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15
Q

What is the hedgehog pathway required for

A

normal segment pattern in drosophila embryo

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16
Q

What is a/the maternal genes

A

bicoid

17
Q

What are the zygotic genes

A

gap, pair-role segmentation and selector

18
Q

What is an example of a gap gene

A

hunchback

19
Q

What is an example of a pair-role gene

A

even-skipped & fushi tarazu

20
Q

What is an example of segmentation genes

A

wingless, hedgehog, patched, & smoothened

21
Q

What is an example of selector genes

A

abdominal A

22
Q

Describe the phenotype of a homozygous hedgehog mutant

A

lawn of denticles - bristles over entire surface

23
Q

What other mutant is also covered in a lawn of denticles

A

wingless mutants

24
Q

What is the function of segment polarity genes

A

establish formation of denticles on ventral side

25
Q

What is the function of selector genes

A

establish identity of appendages

26
Q

Describe the phenotype of a patched like mutant

A

excess naked cuticle - loss of denticles

27
Q

What genes are required for the formation of naked cuticle

A

hh, smo and wg

28
Q

What gene suppresses formation of naked cuticle

A

ptc

29
Q

What expression is lost in hh & smo mutants

A

wingless

30
Q

What expression is expanded in ptc mutants

A

wingless

31
Q

What is hedgehog

A

secreted signalling molecule

32
Q

What are patched & smoothened

A

transmembrane proteins

33
Q

What is wingless

A

secreted signalling molecule

34
Q

What is Ci

A

transcription factor required for wingless expression

35
Q

What does hh repress

A

ptc

36
Q

What does ptc repress

A

smo

37
Q

What does smo activate

A

wg

BMS109 Develpomental (13 decks)

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