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An intragenic deletion in the human PTPN6 gene affects transcriptional activity

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Abstract

An intragenic deletion in the human PTPN6 gene is described. The PTPN6 gene maps to chromosome 12p12-13 and is shown to possess two alternative first exons. A 1.7-kb deletion occurring in the intron between the two alternatively used first exons is the result of an illegitimate recombination between two Alu-type repeats. The deletion increases the transcriptional activity of the distal promotor.

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References

  • Nehls M, Pfeifer D, Boehm T (1994a) Exon amplification from complete libraries of genomic DNA using a novel phage vector with automatic plasmid excision facility: application to the mouse neurofibromatosis locus. Oncogene 9:2169–2175

    Google Scholar 

  • Nehls M, Messerle M, Sirulnik A, Smith AJH, Boehm T (1994b) Two large insert vectors, λPS and λKO, facilitate rapid mapping and targeted disruption of mammalian genes. Biotechniques 17:770–775

    Google Scholar 

  • Shen S-H, Bastien L, Posner BI, Chretien P (1991) A protein-tyrosine phosphatase with sequence similarity to the SH2 domain of the protein-tyrosine kinases. Nature 352:736–739

    Google Scholar 

  • Shultz LD (1988) Pleiotropic effects of deleterious alleles at the “motheaten” locus. Curr Top Microbiol Immunol 137:216–222

    Google Scholar 

  • Shultz LD, Schweitzer PA, Rajan TV, Yi T, Ihle JN, Matthews RJ, Thomas ML, Beier DR (1993) Mutations at the murine motheaten locus are within the hematopoetic cell protein-tyrosine phosphatase (Hcph) gene. Cell 73:1445–1454

    Google Scholar 

  • Tsui HW, Siminovitch KA, Souza L de, Tsui FWL (1993) Motheaten and viable motheaten mice have mutations in the aematopoetic cell phosphatase gene. Nature Genet 4:124–129

    Google Scholar 

  • Yi T, Cleveland JL, Ihle JN (1992) Protein tyrosine phosphatase containing SH2 domains: characterization, preferential expression in hematopoietic cells, and localization to human chromosome 12p12-p13. Mol Cell Biol 12:836–846

    Google Scholar 

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Authors and Affiliations

  1. Department of Internal Medicine I, Molecular Medicine Group, Hugstetter Strasse 55, D-79106, Freiburg, Germany

    M. Nehls, M. Schorpp & T. Boehm

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  1. M. Nehls
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  2. M. Schorpp
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  3. T. Boehm
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Nehls, M., Schorpp, M. & Boehm, T. An intragenic deletion in the human PTPN6 gene affects transcriptional activity. Hum Genet 95, 713–715 (1995). https://doi.org/10.1007/BF00209495

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  • DOI: https://doi.org/10.1007/BF00209495

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