Eye Development Flashcards
How many times are eyes thought to have evolved?
At least 40-50 times.
What condition results in a “small eye” mutant mouse? Does it come from a heterozygous or homozygous mutation?
Microphthalmia. Comes from a heterozygous mutation.
What is anophthalmia? Does it come from a heterozygous or homozygous mutation?
A total loss of eye, nose, and brain structures (die at birth). Basically a homozygous version of microphthalmia.
What gene is responsible for producing “small eye” mutant mice?
Pax6 (encodes a homeodomain TF).
What steps outline early eye formation in mice?
- Evagination of optic vesicles
- Invagination of lens placode
- Forms optic cup with pinching off of optic vesicle
What is aniridia? What are the morphological characteristics?
The human version of microphthalmia in mice. Missing an iris, cloudy lens, under-developed retina.
Is Pax6 gene dosage important for eye development? What happens if you have too much? Too little?
Yes. Adding Pax6 to “small eye” mutant can rescue development.
Excess = “small eye” mutant
Lack = “small eye” mutant
How is Pax6 gene dosage controlled in the eye? How did Bridget’s experiments determine this?
Controlled by ~12 miRNAs. Determined using a PITA to predict potential miRNA and then narrowed the range from here.
What happens if you knock out one of the miRNA binding sites for Pax6? What if you knock out both?
No effect with just one knock-out. miRNA repression lost and Pax6 over-expressed if both knocked out.
What does miRNA -> Pax6 binding site knockout tell us about the miRNA function in regulating Pax6?
miRNA must function in a cooperative, redundant manner.
What kinds of eyes do drosophila have? What kind of photoreceptors do they have?
Compound eyes with rhabdomeric photoreceptors.
What kind of photoreceptors do protostomes have? What about deuterostomes?
Protostomes: rhabdomeric
Deuterostomes: ciliary
What differentiates rhabdomeric photoreceptors from ciliary photoreceptors?
Rhabdomeric express opsins in the microvilli while ciliary express opsins in a modified cilium.
How were researchers able to induce ectopic eye expression in drosophila?
Using the GAL4 UAS system to express “eyeless” in the legs and antennae, and wings.
What gene is critical for eye development in drosophila? What about mice? Are these functionally conserved?
Drosophila: eyeless
Mice: Pax6
Yes. Replacing one with the other has little effect.
Is Pax6’s function as a master control gene conserved in vertebrate development?
Yep, also induced ectopic eyes on Xenopus when tested by Bob :)
In the vertebrate eye, what does misexpression of Optx2 cause?
Formation of “big” eyes.
In the vertebrate eye, what does misexpression of Rx cause?
Expansion of eye structures.
Does Pax6 act alone as the “dictator” of eye expression?
No. Acts as a key member of a larger “junta” which controls eye development.
Once the regulatory eye-specific TF network begins, does it require continuous stimulation?
No, can upregulate itself to direct eye development independently.
How did eye structures evolve in protostomes and deuterostomes?
Protostomes and deuterostomes likely shared a single ancestor with both kinds of opsins and signalling pathways.
What are the implications of protostomes and deuterostomes having a common ancestor with both kinds of opsins and signalling pathways?
Some protostomes have ciliary opsins while some deuterostomes have rhabdomeric opsins.