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).
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.
Forbes
S A
SA
MRC Molecular Endocrinology Group, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Pannett
A A
AA
Bassett
J H
JH
Harding
B
B
Wooding
C
C
Thakker
R V
RV
Butler
R
R
Ogilvie
D
D
Anand
R
R
Gaudray
P
P
Weber
G
G
Larsson
C
C
Zhang
C X
CX
Calender
A
A
Höppener
J W
JW
Lips
C J
CJ
Kas
K
K
D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002880:Chromosomes, Human, Pair 11; D015723:Gene Library; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010749:Phosphoprotein Phosphatases / Q000235:genetics*; D054648:Protein Phosphatase 2; D011518:Proto-Oncogene Proteins
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D010749:Phosphoprotein Phosphatases; D054648:Protein Phosphatase 2