Clue 1: Orient yourself
What are the main parts, stages, or choices in this model?
Use the labels and the picture's left-to-right, near-to-far, or before-and-after order. Name only what you can point to.
The question
How does a written instruction inside a cell become something that can do a job?
Why it matters: A genetic test becomes useful only when a team can connect a DNA change to a changed protein and a changed process. That chain supports variant interpretation, diagnosis, and research without pretending one gene explains everything.
On your WebXam
You can trace information from a gene to a protein and explain how a change can alter the product.
For life
Having a gene is not the same as using it.
Principle: Having it is not using it
Try the everyday version first
Having it is not using it
A kitchen copies one recipe card, hands the copy to a supervisor, and uses those directions to make the dish. A changed line can change the finished food.
Do not jump to the biology yet. Treat the picture as a small system. Track its parts, follow one change at a time, and keep more than one explanation open until the picture supplies a way to separate them.
Clue 2: Trace one change
What changes while the other parts stay the same?
Follow one object, stage, or path. Point to the first place where the situation changes instead of jumping to the ending.
Clue 3: Keep the cause open
What check would separate two explanations that still fit the picture?
List more than one explanation that still fits. Name the extra observation that would help you separate those possibilities.
Now inspect the illustration
Work from the visible evidence. A useful answer names the part of the picture that supports it and leaves unknown causes open.
- 1What are the main parts, stages, or choices in this model?
- 2What changes while the other parts stay the same?
- 3What check would separate two explanations that still fit the picture?
Tier 1 check
Finish with the everyday model
Trace the instruction from recipe card to working copy to supervisor to finished dish, then predict what one changed line could do.
Answer in plain words. You can finish this required check without opening either optional section below.
Ready for the real names? Optional tier 2
Craniofacial Research Track
Session 7The Molecular Cause, NovemberLens: Genetics of Disease
From gene to protein: IRF6 has a job
Discovery question
How does a written instruction inside a cell become something that can do a job?
Having it is not using it. An instruction affects a cell only when the cell reads it and builds the working part it describes.
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
Having it is not using it. An instruction affects a cell only when the cell reads it and builds the working part it describes.
Goal: Trace an instruction from storage to working product, then explain how a changed instruction can interrupt a building step.
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 .
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 ____.
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)
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.
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?
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 an instruction from storage to working product, then explain how a changed instruction can interrupt a building step.
How this is graded (rubric)
For: Trace an instruction from storage to working product, then explain how a changed instruction can interrupt a building step.
| 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 through the route named under Submit here 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 an instruction from storage to working product, then explain how a changed instruction can interrupt a building step.".
- 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 attached to your class form or handed in, and confirmed.
Go deeper Optional tier 3
Everything required is above. Open this section only if you want the research reading and source trail.
Student reading
The idea in plain English
How does a written instruction inside a cell become something that can do a job?
A kitchen copies one recipe card, hands the copy to a supervisor, and uses those directions to make the dish. A changed line can change the finished food.
Having it is not using it. An instruction affects a cell only when the cell reads it and builds the working part it describes.
- 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 .
This lesson reading is written from the vetted sources in the advanced citation trail below.
Everything you need for today is on this page. These links are optional.
What to read
Read the short plain-language explanation written for this lesson. Plain-language reading for this session
Why this source matters
This explanation gives you the background for today's idea without making you decode a research paper: Having it is not using it. An instruction affects a cell only when the cell reads it and builds the working part it describes.
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
Stop after the final 'Use it now' section. The research citations are available separately for advanced readers.
Your output
Write one claim-evidence sentence: state the main idea, then name the example or evidence that supports it.
These records and papers document the science. They are not assigned student reading. Use the plain-language lesson reading above unless your teacher asks you to inspect an original source.
- 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)