Rough draft.This research track is under review with Dr. Atit's lab. Content and sequence may still change.
Craniofacial Research Track
Session 7The Molecular Cause, NovemberLens: Genetics of Disease
From gene to protein: IRF6 has a job
Discovery question
We know Mateo's cells could not finish fusing his lip and . If the instruction lives in a gene, how does that instruction become a working , and what is the IRF6 protein supposed to do?
A gene is an instruction written in DNA. The cell copies it into mRNA and reads the mRNA to build a . IRF6 codes for a the lip and 's skin-like cells need to fuse, so a broken instruction means the protein cannot do its job.
The plan
Prerequisite check
Before this page, you should know
- Two palatal shelves start beside the tongue, swing up to , and meet at the to form the secondary .
- Where the shelves touch, each is covered by a cell layer called the .
Today's new idea is only
A gene is an instruction written in DNA. The cell copies it into mRNA and reads the mRNA to build a . IRF6 codes for a the lip and 's skin-like cells need to fuse, so a broken instruction means the protein cannot do its job.
Learn first
What to learn
Goal: Trace the path from the IRF6 gene to its and explain, in plain language, the job IRF6 does during lip and .
Know by the end
- A gene is a stretch of DNA that carries the instruction for one product, usually a .
- The cell copies the gene into mRNA, then reads the mRNA to assemble a : DNA to mRNA to protein.
- IRF6 codes for a , a that turns other genes on and off in the skin-like cells of the lip and .
- If a changes the IRF6 instruction, the may be missing or misshapen, so the cells cannot complete .
The plan
Guided notes
1
The instruction and the product
Model start: A gene is the written instruction in DNA; the is the machine the cell builds from that instruction.
- In your own words, write the difference between a gene and a .
- Fill in the arrow diagram: DNA to ____ to ____.
2
What IRF6 builds
Model start: IRF6 codes for a , so its job is to switch on the genes the lip and cells need to mature and fuse.
- Open the IRF6 gene card and write one sentence naming the kind of IRF6 makes.
- A turns other genes on or off. Why would the fusing cells of the lip and need a like that?
3
When the instruction breaks
Model start: If the instruction is changed, the may be cut short or shaped wrong, so it can no longer turn on the genes the cells need.
- Predict what happens to the IRF6 if a changes the gene's instruction.
- Connect it to Mateo: complete the sentence, A broken IRF6 instruction could leave a because ____.
Explore
Reading the Research
What to read
Read the title and the abstract only, not the whole paper. Peer-reviewed literature on IRF6 in clefting (PubMed)
Why this source matters
This is the published evidence behind today's idea: A gene is an instruction written in DNA. The cell copies it into mRNA and reads the mRNA to build a . IRF6 codes for a the lip and 's skin-like cells need to fuse, so a broken instruction means the protein cannot do its job.
Words to unlock first
Reading moves
- Skim the title and abstract first to get the gist.
- Circle the one sentence that states the main claim.
- Box the evidence the authors give for that claim.
- Mark one sentence that confuses you, and move on.
Stop point
You do not need the methods or statistics yet. If a sentence is about lab technique or math you have not learned, mark it and skip it.
Your output
Write one claim-evidence sentence: what this source claims, and the one piece of evidence that backs it up.
Lab day
Using the database (what to capture)
MedlinePlus
Open the tool Plain-language explanations of a gene or condition, written for patients and families.
When you use this: Use this when a research paper is too dense, or when you need to explain a finding to Mateo's family in everyday words.
What the screen looks like
Step by step
- 1Open medlineplus.gov/genetics and search the gene or condition (IRF6).
- 2Read the summary written in everyday words.
- 3Note the conditions the gene is linked to at the bottom of the page.
Capture these fields
- Topic: IRF6 gene
- Plain-language summary: IRF6 helps the tissues of the face join correctly before birth.
- Linked conditions: Van der Woude syndrome; nonsyndromic cleft
How to read it: Start here when a research paper is too dense. MedlinePlus gives you the gist in everyday words so you can go back to the harder source knowing what it is about.
Lost? About MedlinePlus Genetics NCBI Gene
Open the tool The full reference record for a gene: its official symbol, ID, location, and what it does.
When you use this: Use this first, when you have a gene name and need its official ID and address. It is the home base every other database points back to.
What the screen looks like
Step by step
- 1Go to ncbi.nlm.nih.gov/gene and type the gene symbol IRF6 in the search box, then press Search.
- 2Open the top result whose organism is Homo sapiens (human).
- 3At the top of the record, read three things and write them down: the official symbol, the Gene ID number, and the location ( band).
Capture these fields
- Symbol (official gene name): IRF6
- Gene ID (the stable number): 3664
- Location (chromosome band): 1q32.2
- Summary (one line on its job): A transcription factor needed for the skin-surface cells that let the lip and palate fuse.
How to read it: The symbol and Gene ID let you find the exact same gene in every other database. The location should match the band you mapped (1q32). The summary tells you the gene's job in one sentence.
Lost? NCBI Gene help manual (how to use the Gene database)Explore
Vetted links for this session
- IRF6 gene (plain-language gene card) (MedlinePlus Genetics, NLM)
- IRF6, Gene ID 3664 (the full gene record) (NCBI Gene, NLM)
- Talking Glossary of Genomic and Genetic Terms (NHGRI)
- Genetics basics, interactive lessons (Genetic Science Learning Center) (University of Utah)
- Peer-reviewed literature on IRF6 in clefting (PubMed) (PubMed, NLM)
Learn first
Pick your level
Level 1, Guided
Use the sentence starters, a word bank from the vocabulary, a labeled diagram, and the exact source link.
Level 2, Collaborative
Complete a partly blank model or table and explain it.
Level 3, Independent
Make a claim from a new example or an unfamiliar entry in the same database.
The plan
Work as a research team
Team roles
- Manager: keeps the group moving
- Recorder: writes the shared model or table
- Evidence checker: verifies each claim against the source
- Reporter: explains the group's reasoning
Process reflection
- What evidence changed your thinking today?
- What did your group disagree about, and how did you resolve it?
- What question is still unresolved?
Check yourself
Demonstration of learning
By the end of this session, submit ONE of: a labeled diagram with a 2-sentence explanation; a claim, evidence, reasoning paragraph; a completed data table from a real database; or a one-question exit ticket using today's vocabulary.
Meets standard if your explanation correctly connects structure, timing, gene or protein function, or evidence source to Mateo's case: Trace the path from the IRF6 gene to its protein and explain, in plain language, the job IRF6 does during lip and palate fusion.
How this is graded (rubric)
For: Trace the path from the IRF6 gene to its protein and explain, in plain language, the job IRF6 does during lip and palate fusion.
| 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. |
How the model answer scores against this rubric
- CompleteProficient: Nothing is left blank: the model fills every part of "Trace the path from the IRF6 gene to its protein and explain, in plain language, the job IRF6 does during lip and palate fusion.".
- 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.