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Genetics > Developmental Genetics > Flashcards

Developmental Genetics Flashcards

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Biology 101 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
Q

How does hermaphroditism occur?

A
  • SRY isn’t activated in time

- Y chromosome is translated onto X chromosome

26
Q

What is regeneration?

A

Reactivation of development postembryonically

27
Q

What can humans regenerate?

A
  • fingertips if young enough

- liver

28
Q

What are neural crest cells?

A
  • mesenchymal cells dorsal to neural tube

- form neurons/glia, adrenal medulla, melanocytes, skeleton/CT of head

29
Q

When does specification of neural crest cells occur?

A

gastrulation

30
Q

What is the role of Sox9 and Snail genes?

A

induce EMT

31
Q

What is the role of Foxd3 gene?

A

Specifies cells as neural crest

32
Q

What is the role of Sox10?

A

helps neural crest cells respond to cues to differentiate

33
Q

Neural crest cells delaminate….

A
  1. different cadherin expression in NCC
  2. epidermis
  3. neural tube
34
Q

What is the role of cranial neural crest?

A
  • Responsible for much of the head
  • Glial/neural cells
  • Bone
  • Cartilage
  • CT
35
Q

What is Microsomia?

A
  • Cranial neural crest disorder

- abnormally small part of the face/asymmetry

36
Q

Craniosynostosis

A

bones formed from cranial NCC fuse too early

37
Q

Cleft chin

A

bones formed from cranial NCC fuse too late

38
Q

Which way to trunk neural crest cells migrate?

A

dorsolaterally

39
Q

Trunk neural crest cells differentiate into….

A
  1. sclerotomes (vertebral cartilage)

2. melanocytes

40
Q

How are trunk neural crest cells regulated?

A

Foxd3 downregulation

41
Q

Issues with melanoblast migration and deafness

A
  • migrating melanoblasts induce blood vessels in inner ear to form
  • can lead to deafness/changes in pigmentation if migration altered
42
Q

Issues with melanocyte migration (3)

A
  1. Differential migration of melanocytes
  2. Splotch of unpigmented on an otherwise pigmented background
  3. Mutations in genes related to melanocyte migration/differentiation
43
Q

Issues with melanocyte migration: pigmented birthmarks (2)

A
  • congenital dermal melanocytes: pigment fails to make it all the way to surface of skin
  • congenital melanocytic nevus: moles that you’re born with

Genetics (13 decks)

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