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)
Sa. Forbes et al., 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), Human genetics, 100(3-4), 1997, pp. 481-485
The multiple endocrine neoplasia type 1 (MEN1) locus has been previous
ly localised to 11q13 by combined tumour deletion mapping and recombin
ation studies, and a 0.5-Mb region, flanked by PYGM and D11S449, has b
een defined. In the course of constructing a contig, we have identifie
d the location of the gene encoding the B56 beta subunit of protein ph
osphatase 2A (PP2A), which is involved in cell signal transduction pat
hways 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 abnorm
alities were not identified and thus the PP2A-B56 beta gene is exclude
d as the candidate gene for MEN1. However, our precise localisation of
PP2A-B56 beta to this region of 11q13 may help in elucidating the bas
is for other disease genes mapping to this gene-rich region.