title: An intragenic deletion in the human PTPN6 gene affects transcriptional activity.
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.
authors.affiliation: German Cancer Center, Heidelberg.
authors.forename: M
authors.initials: M
authors.lastname: Nehls
authors.forename: M
authors.initials: M
authors.lastname: Schorpp
authors.forename: T
authors.initials: T
authors.lastname: Boehm
mesh_terms: D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D008540:Meiosis; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D017384:Sequence Deletion; D014158:Transcription, Genetic; D044465:White People / Q000235:genetics
chemical_list: D017027:Protein Tyrosine Phosphatases