PMID- 10580746
OWN - NLM
STAT- MEDLINE
DCOM- 19991202
LR  - 20190905
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 46
IP  - 4
DP  - 1999 Aug
TI  - Loss of wild-type MEN1 gene expression in multiple endocrine neoplasia type 
      1-associated parathyroid adenoma.
PG  - 539-44
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a human hereditary tumor syndrome 
      characterized by the development of endocrine adenomas of the parathyroid, 
      anterior pituitary, and enteropancreatic tissue. Several lines of evidence have 
      implicated the recently identified MEN1 gene located on chromosome 11q13 as a 
      recessive tumor suppressor gene. Here, we analyzed MEN1 wild-type gene expression 
      in tumors from a large MEN1 kindred. A deletion of codons 227-228 (678del6) 
      located in exon 4 was found in tumor and peripheral blood complementary DNA using 
      a simplified single-strand conformational polymorphism (SSCP) approach well 
      suited for clinical MEN1 mutation screening. The identified 678del6 cDNA mutation 
      deletes a potential phosphorylation site (Tyr227) and corresponds to a germ line 
      mutation co-segregating with disease phenotype in this MEN1 family. Loss of 
      heterozygosity analysis by fluorescent microsatellite PCR showed an exclusive 
      loss of the MEN1 wild-type (and retention of the mutated) allele detectable in 
      DNA from microdissected parathyroid and pancreatic, but not in adrenal, adenomas. 
      Our findings confirm the synergism between MEN1 gene mutations and subsequent 
      MEN1 allelic losses in the tumorigenesis of MEN1-associated adenomas.
FAU - Ludwig, L
AU  - Ludwig L
AD  - Department of Internal Medicine, Ulm University Hospital, Germany.
FAU - Schleithoff, L
AU  - Schleithoff L
FAU - Kessler, H
AU  - Kessler H
FAU - Wagner, P K
AU  - Wagner PK
FAU - Boehm, B O
AU  - Boehm BO
FAU - Karges, W
AU  - Karges W
LA  - eng
PT  - Journal Article
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adenoma/*genetics
MH  - Adult
MH  - Female
MH  - *Gene Expression Regulation, Neoplastic
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Nuclear Family
MH  - Parathyroid Neoplasms/*genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Proto-Oncogene Proteins
MH  - Sequence Analysis, DNA
EDAT- 1999/12/02 00:00
MHDA- 1999/12/02 00:01
CRDT- 1999/12/02 00:00
PHST- 1999/12/02 00:00 [pubmed]
PHST- 1999/12/02 00:01 [medline]
PHST- 1999/12/02 00:00 [entrez]
AID - 10.1507/endocrj.46.539 [doi]
PST - ppublish
SO  - Endocr J. 1999 Aug;46(4):539-44. doi: 10.1507/endocrj.46.539.