Mapping of the gene encoding the B56 beta subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)

Hum Genet. 1997 Sep;100(3-4):481-5. doi: 10.1007/s004390050538.

Abstract

The multiple endocrine neoplasia type 1 (MEN1) locus has been previously localised to 11q13 by combined tumour deletion mapping and recombination studies, and a 0.5-Mb region, flanked by PYGM and D11S449, has been defined. In the course of constructing a conting, we have identified the location of the gene encoding the B56 beta subunit of protein phosphatase 2A (PP2A), which is involved in cell signal transduction pathways and thus represents a candidate gene for MEN1. We have searched for mutations in the PP2A-B56 beta coding region, together with the 5' and 3' untranslated regions in six MEN1 patients. DNA sequence abnormalities were not identified and thus the PP2A-B56 beta gene is excluded as the candidate gene for MEN1. However, our precise localisation of PP2A-B56 beta to this region of 11q13 may help in elucidating the basis for other disease genes mapping to this generich region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 11*
  • Gene Library
  • Humans
  • Multiple Endocrine Neoplasia Type 1 / genetics*
  • Neoplasm Proteins / genetics*
  • Phosphoprotein Phosphatases / genetics*
  • Protein Phosphatase 2
  • Proto-Oncogene Proteins*

Substances

  • MEN1 protein, human
  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • Phosphoprotein Phosphatases
  • Protein Phosphatase 2