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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 contig, we have identified the location of the gene encoding the B56β 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-B56β coding region, together with the 5' and 3' untranslated regions in six MEN1 patients. DNA sequence abnormalities were not identified and thus the PP2A-B56β gene is excluded as the candidate gene for MEN1. However, our precise localisation of PP2A-B56β to this region of 11q13 may help in elucidating the basis for other disease genes mapping to this gene rich region.

Original publication

DOI

10.1007/s004390050538

Type

Journal article

Journal

Human Genetics

Publication Date

01/01/1997

Volume

100

Pages

481 - 485