Developmental Disorders and Embryonic Development Quiz

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Questions and Answers

What is the main advantage of using genetically modified mice in genetic experiments?

  • They can be genetically manipulated to express or not express specific genes being tested (correct)
  • They have a higher reproductive rate than other model organisms
  • They have a longer lifespan compared to other model organisms
  • They are more resistant to genetic mutations

What is the role of HOX genes in developmental genetics?

  • They regulate the overall growth rate of the organism
  • They establish spatial and temporal patterns of gene expression along the axis (correct)
  • They control the color patterns in the fur of the mice
  • They determine the reproductive capabilities of the organism

What is the definition of paralog as it applies to homeobox genes?

  • Genes responsible for regulating the immune response
  • Genes that control the circadian rhythm
  • Genes involved in energy metabolism
  • Homologous sequences of genes within the same genome (correct)

What is the consequence of a homeotic transformation?

<p>Segment identity is altered due to the missing gene, resulting in transformation of the segment (B)</p> Signup and view all the answers

What are the dual functions of IPF1 in pancreas development and function?

<p>Required for beta cells to express insulin and necessary for the formation of the pancreas during development (C)</p> Signup and view all the answers

How do paracrine signal molecules primarily interact with nearby cells?

<p>They are secreted into the intercellular space and diffuse to nearby cells (A)</p> Signup and view all the answers

Which family of paracrine signal molecules is known to be related to diverse organisms?

<p>Wingless family (Wnt) (B)</p> Signup and view all the answers

What do DNA transcription factors primarily bind to in order to regulate gene expression?

<p>DNA (B)</p> Signup and view all the answers

Which family of DNA transcription factors is known to cause pleiotropic effects when mutated?

<p>Homeobox – HOX, PAX, EMX, MSX (C)</p> Signup and view all the answers

What is the primary function of extracellular matrix proteins in embryonic development?

<p>Facilitate cell migration by providing a matrix for migration (A)</p> Signup and view all the answers

Which proteins act as a link between the extracellular matrix (ECM) and the cytoskeleton?

<p>Integrins (D)</p> Signup and view all the answers

How do cells primarily bind to the extracellular matrix (ECM)?

<p>Using specific proteins such as integrins (B)</p> Signup and view all the answers

What is the main role of paracrine signal molecules in causing gene expression changes?

<p>Phosphorylation of proteins and signal transduction cascades (A)</p> Signup and view all the answers

Which mutation leads to Supravalvular aortic stenosis, affecting heart and blood vessels?

<p>Elastin mutation (D)</p> Signup and view all the answers

What is the result of a mutation in FGFR3?

<p>Skeletal dysplasias (D)</p> Signup and view all the answers

Which factor stimulates limb growth?

<p>FGF2 (D)</p> Signup and view all the answers

What is the role of SHH in limb bud development?

<p>Maintains the apical ectodermal ridge (AER) (D)</p> Signup and view all the answers

What does a mutation in SOX10 cause?

<p>Hirschsprung disease (C)</p> Signup and view all the answers

Which mutation leads to Junctional Epidermolysis bullosa, causing skin blistering?

<p>Laminin mutation (D)</p> Signup and view all the answers

What is the consequence of a mutation in ZIC3?

<p>Results in Situs inversus (D)</p> Signup and view all the answers

Which mutation causes Holt-Oram syndrome, affecting limb development?

<p>TBX5 mutation (A)</p> Signup and view all the answers

What does a mutation in SHH lead to?

<p>Holoprosencephaly (C)</p> Signup and view all the answers

What is the effect of a collagen mutation?

<p>Leads to Osteogenesis imperfecta (D)</p> Signup and view all the answers

What is the outcome of a mutation in Laminin?

<p>Causes skin blistering (C)</p> Signup and view all the answers

What role does pattern formation play in embryo development?

<p>Establishes tissue organization and signaling centers for positional information (C)</p> Signup and view all the answers

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Study Notes

Molecular Basis of Developmental Disorders and Embryonic Development

  • Transcription factors can have multiple targets, bind DNA, and alter gene expression, causing pleiotropic effects.
  • Collagen mutation leads to Osteogenesis imperfecta, affecting bone formation.
  • Fibrillin mutation causes Marfan Syndrome, characterized by tall stature and heart abnormalities.
  • Elastin mutation results in Supravalvular aortic stenosis, affecting heart and blood vessels.
  • Laminin mutation leads to Junctional Epidermolysis bullosa, causing skin blistering.
  • Pattern formation in embryo development establishes tissue organization and signaling centers for positional information.
  • Mutations in FGFR3 cause skeletal dysplasias like achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
  • SOX10 mutation causes Hirschsprung disease, affecting colon motility, and SHH mutation leads to holoprosencephaly, affecting midline brain development.
  • ZIC3 mutation causes Situs inversus, a complete reversal of left/right asymmetry.
  • TBX5 mutation causes Holt-Oram syndrome, affecting limb development.
  • FGF2, 4, 8 stimulate limb growth, while SHH maintains the apical ectodermal ridge (AER) in limb bud development.
  • SHH also plays a role in determining the fate of cells in the neural tube, somites, limbs, and the left-right axis.

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