PMID- 9003511
OWN - NLM
STAT- MEDLINE
DCOM- 19970220
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 99
IP  - 1
DP  - 1997 Jan
TI  - Exclusion of the phosphatidylinositol-specific phospholipase C beta 3 (PLC beta 
      3) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) gene.
PG  - 133-7
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is inherited as an autosomal dominant 
      disorder, characterized by hyperplasia and neoplasia in several endocrine organs. 
      The MEN 1 gene, which is most probably a tumor suppressor gene, has been 
      localized to a 900-kb region on chromosome 11q13. The human 
      phosphatidylinositol-specific phospholipase C beta 3 (PLC beta 3) gene, which is 
      located within this region, was considered to be a good candidate for the MEN 1 
      gene. In this study, the structure and expression of the PLC beta 3 gene in MEN 1 
      patients were investigated in more detail, to determine its potential role in MEN 
      1 tumorigenesis. Southern blot analysis, using blood and tumor DNA from affected 
      persons from seven different MEN 1 families, did not reveal structural 
      abnormalities in the PLC beta 3 gene. To detect possible point mutations, or 
      other small structural aberrations, direct sequencing of PLC beta 3 cDNAs from 
      two affected persons from two different MEN 1 families was performed, but no MEN 
      1-specific abnormalities were revealed. Several common nucleotide sequence 
      polymorphisms were detected in these cDNAs, proving that both alleles of the PLC 
      beta 3 gene were expressed and analyzed. In conclusion, these results exclude the 
      PLC beta 3 gene as a candidate gene for MEN 1.
FAU - de Wit, M J
AU  - de Wit MJ
AD  - Department of Internal Medicine, University Hospital Utrecht, The Netherlands.
FAU - Landsvater, R M
AU  - Landsvater RM
FAU - Sinke, R J
AU  - Sinke RJ
FAU - Geurts van Kessel, A
AU  - Geurts van Kessel A
FAU - Lips, C J
AU  - Lips CJ
FAU - Hoppener, J W
AU  - Hoppener JW
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Primers)
RN  - 0 (DNA, Complementary)
RN  - 0 (Isoenzymes)
RN  - EC 3.1.21.- (DNA Restriction Enzymes)
RN  - EC 3.1.4.- (Type C Phospholipases)
RN  - EC 3.1.4.11 (PLCB3 protein, human)
RN  - EC 3.1.4.11 (Phospholipase C beta)
SB  - IM
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - DNA Primers
MH  - DNA Restriction Enzymes
MH  - DNA, Complementary
MH  - Humans
MH  - Isoenzymes/biosynthesis/*genetics
MH  - Multiple Endocrine Neoplasia Type 1/enzymology/*genetics
MH  - Phospholipase C beta
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Reference Values
MH  - Restriction Mapping
MH  - Type C Phospholipases/biosynthesis/*genetics
EDAT- 1997/01/01 00:00
MHDA- 1997/01/01 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1997/01/01 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - 10.1007/s004390050327 [doi]
PST - ppublish
SO  - Hum Genet. 1997 Jan;99(1):133-7. doi: 10.1007/s004390050327.