Developmental Genetics Flashcards

1
Q

Only ___% successfully implant

A

20-50%

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2
Q

____% of those that implant survive to term

A

40%

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3
Q

___% of those who survive have birth defects

A

2.5%

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4
Q

Malformation

A

inherent issue with development

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5
Q

Deformation

A

constraint on the fetus

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6
Q

Disruption

A

outside force causes improper development of the body

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7
Q

Forward genetics

A
  • Random mutations

- see what mutations cause phenotypes that interest you, then map the mutations

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8
Q

Reverse genetics

A

-start with a gene of interest and knockout or knockdown expression to see what happens

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9
Q

Homologous structure

A
  • same evolutionary origin
  • similar structure, different function
  • divergent evolution
  • i.e. flipper of whale and wing of bat
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10
Q

Analogous structure

A
  • very different evolutionary origin
  • but similar function
  • i.e. wings of different animals
  • convergent evolution
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11
Q

mid-blastula transition

A

zygotic gene transcription activated, maternal transcripts degraded

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12
Q

maternal effect genes

A

things that are loaded into oocyte by mom

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13
Q

syncytial cells

A
  • only goes through nuclear division not cytoplasmic division
  • Drosophilia embryos
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14
Q

When bicoid is translated upon fertilization, it represses _____ translation.

A

caudal

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15
Q

When nanos is translated upon fertilization, it represses _____ translation.

A

hunchback

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16
Q

What are bicoid, hunchback, and caudal?

A

mRNAs loaded into oocyte by mom

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17
Q

Leibenburg Syndrome

A

-partial transformation of forelimbs to hindlimb specificity

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18
Q

Rules of maternal effect genes

A
  1. Mom’s genotype determines child’s phenotype.
    “If mom is a mutant child looks like a mutant no matter what the genotype is.”
  2. Mom supplies RNAs and proteins into oocyte.
19
Q

Primary sex determination

A

development of the bipotential gonad into either testes or ovaries

20
Q

Secondary sex determination

A

hormones made by the gonads determine male/female phenotype

21
Q

SRY gene

A
  • sex determining region of Y

- carries testis-determining factor

22
Q

anti-Mullerian hormone

A

made by future testis cells (XY)

23
Q

What duct develops with estrogen?

A

Mullerian duct

24
Q

What duct is maintained with testosterone?

A

Wollfian duct

25
How does hermaphroditism occur?
- SRY isn't activated in time | - Y chromosome is translated onto X chromosome
26
What is regeneration?
Reactivation of development postembryonically
27
What can humans regenerate?
- fingertips if young enough | - liver
28
What are neural crest cells?
- mesenchymal cells dorsal to neural tube | - form neurons/glia, adrenal medulla, melanocytes, skeleton/CT of head
29
When does specification of neural crest cells occur?
gastrulation
30
What is the role of Sox9 and Snail genes?
induce EMT
31
What is the role of Foxd3 gene?
Specifies cells as neural crest
32
What is the role of Sox10?
helps neural crest cells respond to cues to differentiate
33
Neural crest cells delaminate....
1. different cadherin expression in NCC 2. epidermis 3. neural tube
34
What is the role of cranial neural crest?
- Responsible for much of the head - Glial/neural cells - Bone - Cartilage - CT
35
What is Microsomia?
- Cranial neural crest disorder | - abnormally small part of the face/asymmetry
36
Craniosynostosis
bones formed from cranial NCC fuse too early
37
Cleft chin
bones formed from cranial NCC fuse too late
38
Which way to trunk neural crest cells migrate?
dorsolaterally
39
Trunk neural crest cells differentiate into....
1. sclerotomes (vertebral cartilage) | 2. melanocytes
40
How are trunk neural crest cells regulated?
Foxd3 downregulation
41
Issues with melanoblast migration and deafness
- migrating melanoblasts induce blood vessels in inner ear to form - can lead to deafness/changes in pigmentation if migration altered
42
Issues with melanocyte migration (3)
1. Differential migration of melanocytes 2. Splotch of unpigmented on an otherwise pigmented background 3. Mutations in genes related to melanocyte migration/differentiation
43
Issues with melanocyte migration: pigmented birthmarks (2)
- congenital dermal melanocytes: pigment fails to make it all the way to surface of skin - congenital melanocytic nevus: moles that you're born with