PMID- 7849701
OWN - NLM
STAT- MEDLINE
DCOM- 19950316
LR  - 20220408
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 3
IP  - 10
DP  - 1994 Oct
TI  - The phospholipase C beta 3 gene located in the MEN1 region shows loss of 
      expression in endocrine tumours.
PG  - 1775-81
AB  - Oncogenesis of tumours related to multiple endocrine neoplasia type 1 (MEN1) is 
      associated with somatic deletions involving the MEN1 locus, suggesting 
      inactivation of a tumour suppressor gene in this region. Identification of 
      meiotic cross-overs in MEN1 families has placed the MEN1 locus centromeric of 
      D11S807. An extended deletion mapping was performed in 27 primary parathyroid 
      tumours, and identified D11S427 as the closest centromeric flanking marker. 
      Through physical mapping using newly isolated cDNA clones, we estimated the 
      distance between the flanking markers D11S807 and D11S427 to be less than 900 kb. 
      One of these cDNA clones showed expression of a 4.4 kb message in multiple 
      tissues, including those affected in MEN1, while in five endocrine tumours no 
      transcript was detected. Sequence characterization showed that this gene encodes 
      for the phospholipase C beta 3, a key enzyme in signal transduction.
FAU - Weber, G
AU  - Weber G
AD  - Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
FAU - Friedman, E
AU  - Friedman E
FAU - Grimmond, S
AU  - Grimmond S
FAU - Hayward, N K
AU  - Hayward NK
FAU - Phelan, C
AU  - Phelan C
FAU - Skogseid, B
AU  - Skogseid B
FAU - Gobl, A
AU  - Gobl A
FAU - Zedenius, J
AU  - Zedenius J
FAU - Sandelin, K
AU  - Sandelin K
FAU - Teh, B T
AU  - Teh BT
AU  - et al.
LA  - eng
SI  - GENBANK/Z26649
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (DNA Primers)
RN  - 0 (DNA, Complementary)
RN  - 0 (Genetic Markers)
RN  - 0 (Isoenzymes)
RN  - 0 (RNA Probes)
RN  - EC 3.1.4.- (Type C Phospholipases)
SB  - IM
MH  - Blotting, Northern
MH  - Centromere
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - Cloning, Molecular
MH  - DNA Primers
MH  - DNA, Complementary/isolation & purification
MH  - Female
MH  - *Gene Expression
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Isoenzymes/biosynthesis/genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/enzymology/*genetics
MH  - Organ Specificity
MH  - Pancreas/enzymology
MH  - Parathyroid Neoplasms/genetics
MH  - Polymerase Chain Reaction
MH  - RNA Probes
MH  - Signal Transduction
MH  - Transcription, Genetic
MH  - Type C Phospholipases/biosynthesis/*genetics
EDAT- 1994/10/01 00:00
MHDA- 1994/10/01 00:01
CRDT- 1994/10/01 00:00
PHST- 1994/10/01 00:00 [pubmed]
PHST- 1994/10/01 00:01 [medline]
PHST- 1994/10/01 00:00 [entrez]
AID - 10.1093/hmg/3.10.1775 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1994 Oct;3(10):1775-81. doi: 10.1093/hmg/3.10.1775.