Literature DB >> 7789961

An intragenic deletion in the human PTPN6 gene affects transcriptional activity.

M Nehls1, M Schorpp, T Boehm.   

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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Year:  1995        PMID： 7789961     DOI： 10.1007/bf00209495

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

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Authors:  S H Shen; L Bastien; B I Posner; P Chrétien
Journal:  Nature       Date:  1991-08-22       Impact factor: 49.962

2.  Pleiotropic effects of deleterious alleles at the "motheaten" locus.

Authors:  L D Shultz
Journal:  Curr Top Microbiol Immunol       Date:  1988       Impact factor: 4.291

3.  Exon amplification from complete libraries of genomic DNA using a novel phage vector with automatic plasmid excision facility: application to the mouse neurofibromatosis-1 locus.

Authors:  M Nehls; D Pfeifer; T Boehm
Journal:  Oncogene       Date:  1994-08       Impact factor: 9.867

4.  Mutations at the murine motheaten locus are within the hematopoietic cell protein-tyrosine phosphatase (Hcph) gene.

Authors:  L D Shultz; P A Schweitzer; T V Rajan; T Yi; J N Ihle; R J Matthews; M L Thomas; D R Beier
Journal:  Cell       Date:  1993-07-02       Impact factor: 41.582

5.  Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene.

Authors:  H W Tsui; K A Siminovitch; L de Souza; F W Tsui
Journal:  Nat Genet       Date:  1993-06       Impact factor: 38.330

6.  Protein tyrosine phosphatase containing SH2 domains: characterization, preferential expression in hematopoietic cells, and localization to human chromosome 12p12-p13.

Authors:  T L Yi; J L Cleveland; J N Ihle
Journal:  Mol Cell Biol       Date:  1992-02       Impact factor: 4.272

7.  Two large insert vectors, lambda PS and lambda KO, facilitate rapid mapping and targeted disruption of mammalian genes.

Authors:  M Nehls; M Messerle; A Sirulnik; A J Smith; T Boehm
Journal:  Biotechniques       Date:  1994-10       Impact factor: 1.993
  7 in total
  2 in total

1.  Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome.

Authors:  E Pipiras; A Coquelle; A Bieth; M Debatisse
Journal:  EMBO J       Date:  1998-01-02       Impact factor: 11.598

2.  Alteration in the gene encoding protein tyrosine phosphatase nonreceptor type 6 (PTPN6/SHP1) may contribute to neutrophilic dermatoses.

Authors:  Andrew B Nesterovitch; Zsuzsa Gyorfy; Mark D Hoffman; Ellen C Moore; Nada Elbuluk; Beata Tryniszewska; Tibor A Rauch; Melinda Simon; Sewon Kang; Gary J Fisher; Katalin Mikecz; Michael D Tharp; Tibor T Glant
Journal:  Am J Pathol       Date:  2011-03-04       Impact factor: 4.307
  2 in total

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