Disruption of formin-encoding transcripts in two mutant limb deformity alleles (original) (raw)

Nature volume 346, pages 853–855 (1990)Cite this article

Abstract

THE recent identification of a gene residing at the mouse limb deformity (Id) locus1–5 permits us to test the hypothesis that disruption of this gene is responsible for an inherited anomaly affecting embryonic pattern formation. The gene gives rise to alternatively processed messenger RNAs that can be translated as a family of related protein products, termed the formins1. We have now analysed transcripts from this gene in four independently isolated mutant alleles. In two of these, the _ld_Hd allele (created by insertion of a transgene2) and the _ld_ln2 allele (created by a translocation–inversion involving mouse chromosomes 2 and 17, ref. 6), a common subset of ld transcripts is abolished, but others are apparently unaltered. The correlation of altered transcripts in two independent ld mutants strongly supports the notion that one or more altered formins is responsible for the observed phenotype. That the defect is limited to the limb and kidney, despite expression of ld mRNA in other unaffected organs, suggests that these mutant alleles represent only partial loss of Id function.

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Author notes

  1. Richard L. Maas
    Present address: Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Howard Hughes Medical Institute, 75, Francis Street, Boston, Massachusetts, 02115, USA
  2. Rolf Zeller
    Present address: EMBL, Meyerhofstr. 1, D-6900, Heidelberg, FRG
  3. Richard P. Woychik
    Present address: Biology Division, Oak Ridge National Laboratory, PO Box 2009, Oak Ridge, Tennessee, 37831, USA

Authors and Affiliations

  1. Department of Genetics, Harvard Medical School, and Howard Hughes Medical Institute, 25 Shattuck Street, Boston, Massachusetts, 02115, USA
    Richard L. Maas, Rolf Zeller, Richard P. Woychik, Thomas F. Vogt & Philip Leder

Authors

  1. Richard L. Maas
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  2. Rolf Zeller
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  3. Richard P. Woychik
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  4. Thomas F. Vogt
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  5. Philip Leder
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Maas, R., Zeller, R., Woychik, R. et al. Disruption of formin-encoding transcripts in two mutant limb deformity alleles.Nature 346, 853–855 (1990). https://doi.org/10.1038/346853a0

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