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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 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.

Type

Journal article

Journal

Hum Genet

Publication Date

09/1997

Volume

100

Pages

481 - 485

Keywords

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