Adding insult to injury

A putative splicing factor mutation causes phenotypic variation of an inherited disease

| 2 min read

Register for free to listen to this article
Listen with Speechify
0:00
2:00
Share

Some genetic diseases do not follow a simple pattern of inheritance and exhibit phenotypic variation. This can be explained as a monogenic disorder that is being affected by the action of nonlinked genetic modifiers. A molecular mechanism by which phenotypic variation in disease severity occurs is reported by David Buchner and colleagues at the University of Michigan School of Medicine in the August 15 Science. A mutation in the neuronal sodium channel gene Scn8a results in neurological disease in mice, but the severity varies from progressive but survivable in resistant strains to lethal in susceptible strains, prompting the team to search for a molecular mechanism to account for this in a region they previously mapped to mouse chromosome 3. Comparison of the mouse DNA sequence with the equivalent human region identified a single stop codon mutation that reverse transcription polymerase chain reaction analysis showed to result in both normal and ...

Interested in reading more?

Become a Member of

The Scientist Logo
Receive full access to more than 35 years of archives, as well as TS Digest, digital editions of The Scientist, feature stories, and much more!
Already a member? Login Here

Meet the Author

  • Cathy Holding

    This person does not yet have a bio.
Share
May digest 2025 cover
May 2025, Issue 1

Study Confirms Safety of Genetically Modified T Cells

A long-term study of nearly 800 patients demonstrated a strong safety profile for T cells engineered with viral vectors.

View this Issue
iStock

TaqMan Probe & Assays: Unveil What's Possible Together

Thermo Fisher Logo
Meet Aunty and Tackle Protein Stability Questions in Research and Development

Meet Aunty and Tackle Protein Stability Questions in Research and Development

Unchained Labs
Detecting Residual Cell Line-Derived DNA with Droplet Digital PCR

Detecting Residual Cell Line-Derived DNA with Droplet Digital PCR

Bio-Rad
How technology makes PCR instruments easier to use.

Making Real-Time PCR More Straightforward

Thermo Fisher Logo

Products

The Scientist Placeholder Image

Biotium Launches New Phalloidin Conjugates with Extended F-actin Staining Stability for Greater Imaging Flexibility

Leica Microsystems Logo

Latest AI software simplifies image analysis and speeds up insights for scientists

BioSkryb Genomics Logo

BioSkryb Genomics and Tecan introduce a single-cell multiomics workflow for sequencing-ready libraries in under ten hours

iStock

Agilent BioTek Cytation C10 Confocal Imaging Reader

agilent technologies logo