Does IRF6 Work Alone?
Genetics domain · Lesson 13 of 20 · Medical Interventions (MI), with PBS overlap
Today's goal: Read a gene regulatory network from patient and experimental clues, and place IRF6 in the p63 to IRF6 to GRHL3 axis with KLF4 and KLF17 downstream.
What a finished product looks like
This is a model of the work you should turn in. Use it to check your own: match the structure and the level of detail, do not copy it. Your wording should be your own.
IRF6 sequencing came back normal, but the features point to a periderm-network problem. Next genes to sequence:
- GRHL3 (partner, alongside IRF6): a mutation here causes the same Van der Woude phenotype with a normal IRF6, so it is the top candidate.
- TP63 / p63 (upstream): p63 keeps IRF6 switched on, so losing it can shut the same pathway down from above.
- PRKCI (upstream): a newly reported Van der Woude cause that acts upstream of IRF6 in the periderm.
Reasoning: a normal IRF6 sequence does not rule out a network cause, because partners and upstream regulators feeding the same periderm program can produce the same cleft.
How this was built, step by step
The finished product above did not appear all at once. Here is the path from the question to the turned-in work, so you can follow the same steps.
- 1Start from today's question: Is IRF6 a lone actor, or one link in a chain of genes, and how would we tell from the patterns in patients?
- 2Work the Model and the Explore questions to reason it out before writing anything.
- 3Pull the specific evidence the product needs from the reading and any database you used.
- 4Write it up in the required format: Mateo's first IRF6 test came back normal, but his clinical features still strongly suggest a -network problem. As the systems geneticist, write the lab's next-step order: list two or three other genes from this network to sequence, and for each give a one-line reason based on whether it sits of, alongside, or of IRF6.
- 5Check it against the rubric, then submit.
| Criterion | Proficient | Developing | Beginning |
|---|---|---|---|
| Complete | Every required part of the artifact is present and filled in. | Most parts are present, but one is missing or left blank. | Several parts are missing. |
| Accurate | The science and data are correct and match the evidence. | Mostly correct, with a small factual slip. | Key science or data is wrong. |
| Scientific reasoning (CER) | States a claim, backs it with specific evidence, and explains the reasoning. | Has a claim and evidence, but the reasoning is thin or missing. | Gives an answer with no evidence or reasoning. |
| Professional communication | Clear, organized, and labeled the way a clinician or scientist would write it. | Readable but disorganized or missing labels. | Hard to follow. |
| Submitted | Turned in the right way (Schoology for routine work) and confirmed. | Turned in, but in the wrong place or unconfirmed. | Not turned in. |
- CompleteProficient: Nothing is left blank: the model fills every part of "Mateo's first IRF6 test came back normal, but his clinical features still strongly suggest a periderm-network problem. As the systems geneticist, write the lab's next-step order: list two or three other genes from this network to sequence, and for each give a one-line reason based on whether it sits upstream of, alongside, or downstream of IRF6.".
- AccurateProficient: Every number and claim matches the case evidence.
- Scientific reasoning (CER)Proficient: It names a claim, cites the specific evidence, and explains the reasoning, not just the answer.
- Professional communicationProficient: It is organized and labeled like a real chart note.
- SubmittedProficient: It would be turned in on Schoology and confirmed.
WebXam problem for today's skill
One exam-style question that uses exactly what you practiced today. Try it before you reveal the answer, then read why each choice is right or wrong.
Tap an answer to see the full explanation. Nothing is recorded or graded.