An intragenic deletion in the human PTPN6 gene affects transcriptional activity

Hum Genet. 1995 Jun;95(6):713-5. doi: 10.1007/BF00209495.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 12 / genetics
  • Exons / genetics
  • Gene Frequency
  • Humans
  • Meiosis
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic / genetics
  • Protein Tyrosine Phosphatases / genetics*
  • Sequence Deletion*
  • Transcription, Genetic*
  • White People / genetics


  • Protein Tyrosine Phosphatases

Associated data

  • GENBANK/X82817
  • GENBANK/X82818