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Disruption of formin-encoding transcripts in two mutant limb deformity alleles.
R L Mass1, R Zeller, R P Woychik
1Department of Genetics, Harvard Medical School, Boston, Massachusetts.
Nature
|August 30, 1990
Summary
Altered formin gene transcripts in mouse limb deformity mutants suggest these proteins cause the inherited embryonic pattern formation defect. This research links specific genetic changes to limb and kidney anomalies.
Area of Science:
- Developmental Biology
- Genetics
- Molecular Biology
Background:
- The mouse limb deformity (ld) locus is associated with an inherited anomaly affecting embryonic pattern formation.
- A gene at the ld locus produces alternatively processed messenger RNAs (mRNAs) translated into a family of related proteins called formins.
Purpose of the Study:
- To test the hypothesis that disruption of the gene at the ld locus causes the inherited embryonic pattern formation defect.
- To analyze transcripts from the ld gene in four independently isolated mutant alleles.
Main Methods:
- Analysis of ld gene transcripts in four mutant mouse alleles (ldHd and ldIn2).
- Comparison of transcript profiles between mutant alleles and wild-type.
Main Results:
- Two mutant alleles, ldHd and ldIn2, showed abolition of a common subset of ld transcripts, while others remained unaltered.
- This specific transcript alteration pattern was observed in two independent mutants.
Conclusions:
- The correlation of altered transcripts in independent ld mutants strongly supports that altered formins are responsible for the observed phenotype.
- The defect's limitation to limb and kidney, despite broader ld mRNA expression, suggests these alleles represent partial loss of ld function.