AN INTRAGENIC DELETION IN THE HUMAN PTPN6 GENE AFFECTS TRANSCRIPTIONAL ACTIVITY

Authors
NEHLS M SCHORPP M BOEHM T
Citation
M. Nehls et al., AN INTRAGENIC DELETION IN THE HUMAN PTPN6 GENE AFFECTS TRANSCRIPTIONAL ACTIVITY, Human genetics, 95(6), 1995, pp. 713-715
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
95
Issue
6
Year of publication
1995
Pages
713 - 715
Database
ISI
SICI code
0340-6717(1995)95:6<713:AIDITH>2.0.ZU;2-#
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 alternat ive first exons. A 1.7-kb deletion occurring in the intron between the two alternatively used first exons is the result of an illegitimate r ecombination between two Alu-type repeats. The deletion increases the transcriptional activity of the distal promotor.