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)

被引:1
作者
Forbes, SA
Pannett, AAJ
Bassett, JHD
Harding, B
Wooding, C
Thakker, RV
Butler, R
Ogilvie, D
Anand, R
Gaudray, P
Weber, G
Larsson, C
Zhang, CX
Calender, A
Hoppener, JWM
Lips, CJM
Kas, K
机构
[1] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,MRC,MOL ENDOCRINOL GRP,CLIN SCI CTR,LONDON W12 0NN,ENGLAND
[2] ZENECA PHARMACEUT,MACCLESFIELD SK10 2TG,CHESHIRE,ENGLAND
[3] UNSA,CNRS,UMR 6549,F-06107 NICE,FRANCE
[4] KAROLINSKA HOSP,CMM,DEPT MOL MED,S-17176 STOCKHOLM,SWEDEN
[5] HOP EDOUARD HERRIOT,SERV GENET,F-69437 LYON 03,FRANCE
[6] UNIV UTRECHT HOSP,DEPT PATHOL,NL-3508 GA UTRECHT,NETHERLANDS
[7] CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,ONCOL MOL LAB,B-3000 LOUVAIN,BELGIUM
基金
英国医学研究理事会;
关键词
D O I
10.1007/s004390050538
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 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 gene-rich region.
引用
收藏
页码:481 / 485
页数:5
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