Eye Development: PAX6 and SHH

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Questions and Answers

What is the initial function of sonic hedgehog (SHH) in the development of the eye field?

  • Suppressing the formation of the lens from surface ectoderm.
  • Dividing the single eye field into two separate optic primordia. (correct)
  • Promoting the expression of PAX6 throughout the anterior neural ridge.
  • Inhibiting PAX2 expression to prevent optic stalk formation.

How does SHH contribute to the differentiation of the optic stalk?

  • By directly inducing the formation of the lens.
  • By upregulating the expression of PAX2 in the midline. (correct)
  • By inhibiting the expression of PAX6 in the midline.
  • By repressing the differentiation of the neural retinal layer.

A mutation in the PAX2 gene is most likely to result in:

  • Aniridia (absence of iris).
  • Anophthalmia (absence of eye).
  • Optic nerve colobomas. (correct)
  • Microphthalmia (abnormally small eye).

What role do FGFs secreted by the surface ectoderm play in eye development?

<p>Promoting the differentiation of the neural retinal layer. (D)</p> Signup and view all the answers

If the surrounding mesenchyme is disrupted, preventing the secretion of TGF-β family members, which of the following is most likely to occur?

<p>Impaired differentiation of the pigmented retinal layer. (B)</p> Signup and view all the answers

CHX10 is a transcription factor that primarily directs:

<p>The continued differentiation of the neural retinal. (B)</p> Signup and view all the answers

What is the primary role of MITF in the development of the eye?

<p>Directing the continued differentiation of the pigmented retinal. (D)</p> Signup and view all the answers

What is the effect of a mutation in PAX6 on eye development?

<p>Aniridia (absence of iris). (A)</p> Signup and view all the answers

How do external signals influence the expression of downstream genes within the optic cup layers?

<p>By regulating transcription factors like CHX10 and MITF. (B)</p> Signup and view all the answers

PAX6 is initially expressed in which specific region during eye development?

<p>The center of the anterior neural ridge. (C)</p> Signup and view all the answers

What would be the most likely consequence of a mutation preventing the secretion of SHH from the prechordal plate?

<p>Failure of the single eye field to separate into two optic primordia. (C)</p> Signup and view all the answers

What process relies on epi-mesenchymal interactions with signaling molecules after the eye field is initially made by PAX6?

<p>Subsequent patterning of the eye. (A)</p> Signup and view all the answers

Why is the secretion of SHH from the prechordal plate essential for normal eye development?

<p>It establishes the boundary between the developing eyes and induces optic stalk differentiation. (D)</p> Signup and view all the answers

In cases of Aniridia caused by PAX6 mutations, what specific developmental process is primarily affected?

<p>Differentiation of the iris. (D)</p> Signup and view all the answers

If the surface ectoderm failed to secrete FGFs during eye development, which of the following would be the most direct consequence?

<p>Impaired differentiation of the neural retinal layer. (B)</p> Signup and view all the answers

How do mutations in the transcription factors CHX10 and MITF distinctly affect eye development?

<p>CHX10 mutations affect neural retinal differentiation, while MITF mutations affect pigmented retinal differentiation. (C)</p> Signup and view all the answers

Considering the role of PAX6 and SHH in early eye development, what might be a potential outcome if PAX6 expression was not properly inhibited in the midline?

<p>Fusion of the two eyes into a single, central eye. (D)</p> Signup and view all the answers

What is the relationship between the timing of PAX6 expression and the role of SHH in early eye development?

<p>PAX6 expression precedes SHH secretion, which then refines the eye field by dividing it. (D)</p> Signup and view all the answers

The differentiation of retinal layers is controlled by different signaling molecules. How do FGFs and TGF-β family members coordinate this process?

<p>FGFs promote neural retinal differentiation, while TGF-β family members promote pigmented retinal differentiation. (C)</p> Signup and view all the answers

How do the roles of CHX10 and MITF demonstrate the specificity of transcription factors in eye development?

<p>CHX10 specifically directs neural retinal development, while MITF specifically directs pigmented retinal development. (A)</p> Signup and view all the answers

Flashcards

PAX6

Transcription factor initially expressed as a band in the center of the anterior neural ridge during the 3rd week of gestation; critical for eye development.

Sonic Hedgehog (SHH)

Signaling molecule secreted by the prechordal plate that divides the single eye field into two optic primordia.

SHH's role in eye development

Inhibits expression of PAX6 in the midline, creating a boundary between the developing eyes

PAX2 Function

Differentiation of optic stalk

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PAX2 Mutations

Mutations in this gene may cause optic nerve colobomas.

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PAX6 Mutations

Mutations in this gene can cause aniridia (absence of iris)

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FGFs in Eye Development

Signaling molecules that promote neural retinal layer differentiation (inner optic cup).

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TGF-b in Eye Development

Signaling molecules that promote pigmented retinal layer differentiation (outer optic cup).

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CHX10

Transcription factor that directs the continued differentiation of the neural retinal.

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MITF

Transcription factor directs the continued differentiation of the pigmented retinal.

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Study Notes

  • Gestation lasts approximately 3 weeks.
  • PAX6 is initially expressed as a band in the center of the anterior neural ridge.
  • The single eye field separates into two optic primordia.
  • Separation is mediated by sonic hedgehog (SHH) secreted by the prechordal plate.
  • SHH inhibits the expression of PAX6 in the midline, creating a boundary between the developing eyes.
  • SHH upregulates the expression of PAX2 in the midline, which is involved in the differentiation of the optic stalk.
  • PAX6 continues to regulate the differentiation of the eyes themselves.
    • It is expressed in the optic cup.
    • It is expressed in the overlying surface ectoderm that will form the lens.
  • PAX2 mutations can cause optic nerve colobomas.
  • PAX6 mutations can cause aniridia (absence of iris).
    • PAX6 mutations may contribute to anophthalmia and microphthalmia.
  • Epi-mesenchymal interactions involving signaling molecules are critical for subsequent eye patterning after the eye field is established by PAX6.
  • Fibroblast growth factors (FGFs) secreted by the surface ectoderm in the lens-forming region promote the differentiation of the neural retinal layer (inner optic cup).
  • TGF-β family members, secreted by the surrounding mesenchyme, promote the differentiation of the pigmented retinal layer (outer optic cup).
  • External signals regulate downstream genes within the optic cup layers.
  • The transcription factor CHX10 is expressed
    • CHX10 directs the continued differentiation of the neural retina.
  • The transcription factor MITF is expressed
    • MITF directs the continued differentiation of the pigmented retina.

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