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Developmental Biology. > Monsters. > Flashcards

Monsters. Flashcards

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1
Q

What is responsible for forming human monsters?

A

Genetic mutations.

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2
Q

What is responsible for forming human monsters?

A

Genetic mutations.

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3
Q

How did researchers conclude which genes caused which mutations?

A

By experimenting on other organisms that have a simiilar developmental process to humans.

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4
Q

What techniques were used on what animals?

A

Gene knockout technique. Mice.

Antisense technique. Zebrafish.

SiRNA silencing of RNA. C. elegans.

Induced mutations. Many species

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5
Q

Once researchers had performed gene knockouts on organisms, what did they do?

A

They allowed the organism to develop so they could see what happened.

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6
Q

How do researchers look at a genetic defect that is unique to humans?

A

Find and study humans that have this mutation.

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7
Q

Buddhists used to use what kind of mutants a godlike creatures?

A

Dwarves.

They were guardians of buddhist temples.

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8
Q

What can cause dwarfism in humans?

A

Environmental causes.

Genetic causes.

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9
Q

What is the common name for dwarves?

A

Achondroplastic dwarves

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10
Q

What is the mutation that leads to dwarfism?

A

Achondraplasia.

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11
Q

What is the gene that is affected by achondraplasia?

A

Type 2 collagen.

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12
Q

What does the type 2 collagen mutation lead to?

A

The impaired synthesis of sulphated proteoglycans.

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13
Q

What does the type 2 collagen gene code for?

A

Cartilage and bone formation.

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14
Q

What are hormonal causes of dwarfism?

A

The gene that releases hormones from the pituitary gland is affected.

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15
Q

Why are hormones important for growth?

A

Hormonal regulation is important for stimulating the growth of the longer bones.

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16
Q

Mutations that affect growth factors will lead to what?

A

Dwarfism.

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17
Q

How did researchers conclude which genes caused which mutations?

A

By experimenting on other organisms that have a simiilar developmental process to humans.

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18
Q

Buddhists used to use what kind of mutants a godlike creatures?

A

Dwarves.

They were guardians of buddhist temples.

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19
Q

What is cretinism?

A

An example of environmental dwarfism.

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20
Q

What causes cretinism?

A

When a person does not get enough dietary iodine.

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21
Q

When a person does not get enough iodine, what part of the body is affected?

A

Thyroid function.

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22
Q

Salt in developed countries is enriched with what?

A

Iodine.

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23
Q

The monster of Ravenna is likely to have had what disease?

A

Roberts syndrome.

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24
Q

What are the characteristics of Roberts syndrome?

A

Autosomal recessive.

Long bone deficiencies (loss of proximal structures).

Cleft palate.

Malformed hands.

Chromosomal abnormalities.

Mitotic errors.

Changes in heterochromatin.

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25
Q

How does Spemman and Mangolds experiment related to the creation of 2 headed animals?

A

They transplanted the dorsal lip of the blastopore onto the other side of the embryo.

The nodal related proteins in the dorsal lip inactivate BMP and generate a second dorsal axis.

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26
Q

What is the most common form of 2 heads being exhibited in humans?

A

Siamese twins.

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27
Q

How are identical siamese twins formed?

A

The embryo splits at the blastomere stage, cells will regulate each other to develop a new organism, once they re-fuse, their will be 2 separate but identical groups of cells that are joined together.

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28
Q

How are non identical twins formed?

A

Where 2 different embryos fuse together.

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29
Q

Who were 2 famous womanising Siamese twins?

A

Cheng and Eng.

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30
Q

Who were the Siamese twins who shared a pair of legs?

A

The Tocci brothers.

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31
Q

What did French surgeon Ambrose Pare blame for causing Siamese twins?

A

God, the devil.

What women saw during pregnancy.

tight womb.

Tight clothes worn by the pregnant women.

32
Q

Who started a mutant museum and started to look into why mutants were formed?

A

Geoffrey St Hilaire.

33
Q

Where were mermaids first described?

A

In Japanese and Greek mythology.

34
Q

What genetic defect causes a mermaid like appearance?

A

Sirenomelia.

35
Q

What are the symptoms of sirenomelia?

A

The legs fuse together and form a tail like structure.

36
Q

How can sirenomelia be induced in golden hamsters?

A

By exposing embryos to heavy metals such as lead and cadmium during certain periods in their development.

37
Q

How can sirenomelia be induced in mice?

A

By exposing a mouse embryo to retinoic acid.

38
Q

What is a cyclops?

A

A monster with only one eye in its head?

39
Q

How can cyclopia be induced in a calf?

A

If a pregnant cow ingests a plant called veratrum californium on the 14th day of gestation, then the calf will be born with one eye.

As a drug in the plant disrupts SHH signalling.

40
Q

How does SHH cause 2 eyes to be formed?

A

It is secreted from the prechordal plate is responsible for splitting the eye field into 2 fields.

41
Q

Which drug can induce cyclopia?

A

Cyclopamine.

It is a steroidal alkaloid which is similar to cholesterol.

42
Q

How does cyclopamine induce cyclopia?

A

By inhibiting target tissues that respond to SHH.

43
Q

What is the most common cause of cylopia in humans?

A

Holoprosancephaly.

44
Q

Holoprosancephaly leads to a mutation in which gene?

A

The SHH gene.

45
Q

If a baby is born with cyclopia, what other condition are they likely to have?

A

Trisomy 13.

46
Q

Where is the SHH gene located in humans?

A

On the long arm of chromosome 7.

47
Q

WHy does SHH need a receptor?

A

Becuase it is a secreted protein.

48
Q

What is the receptor called for SHH?

A

PATCHED.

49
Q

What is the membrane receptor that PATCHED works with?

A

SMOOTHENED.

50
Q

What happens when SHH is bound to PATCHED?

A

If SHH is bound to PATCHED, then this will activate SMOOTHIN.

51
Q

What happens when SHH is not bound to PATCHED?

A

When no SHH is bound to the PATCHED receptor then SMOOTENED is inhibited.

52
Q

What happens when PATCHED is activated?

A

It will turn on the GLI proteins.

These bind to genes and turn them on, e.g. the HOX genes.

53
Q

Heterozygous mutations of SHH are caused by what?

A

One form of autosomal dominant holoprosancephaly.

54
Q

What do less mild forms of holoprosancephaly cause?

A

A range of different phenotypes associated with the face from cyclopia to a single incisor.

55
Q

Who was the God with 2 faces?

A

Janus.

56
Q

How can animals and humans develop 2 faces?

A

An increase of SHH in the frontal nasal prominence which promotes mediolateral expansion the face and ventral forebrain.

57
Q

The condition that causes a person to have 2 faces is called what?

A

Hypertelorism.

58
Q

How can hypertelorism be induced in chickens?

A

It can be induced in chickens by implanting a bead soaked with SHH into the frontal nasal prominence.

59
Q

Too much SHH causes what?

Too little SHH causes what?

A

Too much SHH causes 2 faces to develop.

Too little SHH causes cyclopia.

60
Q

What is the real name of ostrich foot mutation?

A

Split hand/foot malformation or electrodactyl.

61
Q

What characterises electrodactyl?

A

It is typically characterised by a cleft in the hands or feet and a fusion of fingers or toes.

62
Q

What causes electrodactyl?

A

A mutation in the DLX gene which is the master control gene for limb development.

63
Q

How did researchers induce electrodactyl in mice?

A

They did a double knockout in mice as they have a double copy the DLX gene.

They targeted DLX-5 and DLX-6 and this knockout caused the split hand/foot malformation.

64
Q

What is acheiropody?

A

An autosomal recessive genetic defect and is the absence of a hand or foot.

65
Q

Acheiropody is common in people of what descent?

A

Portuguese.

66
Q

What kind of structures do not form when a person has acheiropody?

A

Distal structures.

Hands/feet.

67
Q

What is thought to cause acheiropody?

A

It has been mapped to a gene called LMBR-1 and is thought to encode a receptor.

It is also possible that this disorder is disrupting the formation of the AER or FGF signalling.

68
Q

What is phocomelia?

A

The loss of proximal structures (arms/legs).

69
Q

Do any limbs form when a person has phocomelia?

A

Hands and legs grow out of the shoulders and pelvis.

70
Q

Which drug was responsible for causing phocomelia?

A

Thalidomide.

71
Q

What does polydactyly cause?

A

A mirror image hand to develop.

72
Q

What is the most common genetic defect that leads to polydactyly?

A

An SHH mutation which affects GLI-3.

73
Q

How can polydactyly be induced?

A

By transplanting a ZPA to the anterior limb bud.

74
Q

Polydactyly occurs in how many live births?

A

10-15/1000 births.

75
Q

What are supernumerary breasts?

A

Where a person has extra breasts or nipples.

76
Q

What causes supernumerary breasts?

A

It is a genetic trait.

77
Q

Where are the human orthologs?

A

The human orthologs are in the HOM-C, HOX clusters.

Developmental Biology. (21 decks)

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