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A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice

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Abstract

Stratifin (Sfn, also called 14-3-3σ) is highly expressed in differentiating epidermis and mediates cell cycle arrest. Sfn is repressed in cancer, but its function during development is uncharacterized. We identified an insertion mutation in the gene Sfn in repeated epilation (Er) mutant mice by positional cloning. Er/+ mice expressed a truncated Sfn protein, which probably contributes to the defects in Er/Er and Er/+ epidermis and to cancer development in Er/+ mice.

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Figure 1: Phenotypic characteristics of Er/+ and Er/Er mice.
Figure 2: Sfn mutation analysis.

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GenBank/EMBL/DDBJ

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Acknowledgements

We thank D. Green, S. Vitelli, M. Wingrave and the Wadsworth Center Molecular genetics core and Transgenic mouse cores for technical assistance; E. Pequignot and G. Kusek for statistical analyses; L. Flaherty, D. Symula, T Gray, M. Ryan and R. Peitropalo for critical review of this manuscript; and all investigators who provided probes for mapping studies. This research was supported in part by grants from the US National Cancer Institute and from the New York State Office of Science, Technology and Academic Research.

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Author notes

  1. Rebecca A Liddell

    Present address: Dana Farber Cancer Institute, Smith Bldg., Room 758B, 44 Binney Street, Boston, Massachusetts, 02115, USA

  2. Jill K Fisher

    Present address: Cancer Diagnosis Program, Division of Cancer Treatment and Diagnosis, NCI, NIH, 6130 Executive Blvd., Rockville, Maryland, 20892, USA

Authors and Affiliations

  1. Genomics Institute, Wadsworth Center, NYS Dept. of Health, 465 Jordan Road, Albany, 12180, New York, USA

    Bruce J Herron, April Parker & Jennifer Kinne

  2. Kimmel Cancer Center, Thomas Jefferson University, 233 South 10th Street, Philadelphia, 19107-5541, Pennsylvania, USA

    Rebecca A Liddell, Sarah Grant, Jill K Fisher & Linda D Siracusa

  3. Dana Farber Cancer Institute, Smith Bldg., Room 758B, 44 Binney Street, Boston, Massachusetts, 02115, USA

    Jill K Fisher

  4. Cancer Diagnosis Program, Division of Cancer Treatment and Diagnosis, NCI, NIH, 6130 Executive Blvd., Rockville, Maryland, 20892, USA

    Rebecca A Liddell

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  1. Bruce J Herron
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  2. Rebecca A Liddell
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  3. April Parker
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  4. Sarah Grant
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  6. Jill K Fisher
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  7. Linda D Siracusa
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Correspondence to Bruce J Herron.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Keratinocyte proliferation data. (PDF 34 kb)

Supplementary Fig. 2

Genetic mapping data. (PDF 145 kb)

Supplementary Fig. 3

Inbred strain haplotype analysis. (PDF 97 kb)

Supplementary Table 1

Informative loci surrounding Sfn. (PDF 14 kb)

Supplementary Methods (PDF 72 kb)

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Herron, B., Liddell, R., Parker, A. et al. A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice. Nat Genet 37, 1210–1212 (2005). https://doi.org/10.1038/ng1652

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  • DOI: https://doi.org/10.1038/ng1652

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