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

17
Q

What are the zygotic genes

A

gap, pair-role segmentation and selector

18
Q

What is an example of a gap gene

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
What is the function of selector genes
establish identity of appendages
26
Describe the phenotype of a patched like mutant
excess naked cuticle - loss of denticles
27
What genes are required for the formation of naked cuticle
hh, smo and wg
28
What gene suppresses formation of naked cuticle
ptc
29
What expression is lost in hh & smo mutants
wingless
30
What expression is expanded in ptc mutants
wingless
31
What is hedgehog
secreted signalling molecule
32
What are patched & smoothened
transmembrane proteins
33
What is wingless
secreted signalling molecule
34
What is Ci
transcription factor required for wingless expression
35
What does hh repress
ptc
36
What does ptc repress
smo
37
What does smo activate
wg