PMID- 1968641
OWN - NLM
STAT- MEDLINE
DCOM- 19900406
LR  - 20190501
IS  - 0027-8424 (Print)
IS  - 1091-6490 (Electronic)
IS  - 0027-8424 (Linking)
VI  - 87
IP  - 5
DP  - 1990 Mar
TI  - Localization of the MEN1 gene to a small region within chromosome 11q13 by 
      deletion mapping in tumors.
PG  - 1968-72
AB  - The gene for multiple endocrine neoplasia type 1 (MEN1), an inherited 
      predisposition to neuroendocrine neoplasm of the parathyroid glands, the 
      pancreatic islet parenchyma, and the anterior pituitary gland, was recently 
      mapped to chromosome 11q13 based on genetic linkage in families. We now show that 
      the pathogenesis of MEN1-associated parathyroid lesions involves unmasking of a 
      recessive mutation at the disease locus and that sporadic primary 
      hyperparathyroidism shares the same mechanisms. By examination of allele losses 
      in MEN1-associated lesions, we could define deletions of chromosome 11 and map 
      the MEN1 locus to a small region within chromosome band 11q13, telomeric to the 
      PYGM locus. In contrast, a low incidence of deletions involving the MEN1 gene was 
      found in sporadic pituitary adenomas.
FAU - Bystrom, C
AU  - Bystrom C
AD  - Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
FAU - Larsson, C
AU  - Larsson C
FAU - Blomberg, C
AU  - Blomberg C
FAU - Sandelin, K
AU  - Sandelin K
FAU - Falkmer, U
AU  - Falkmer U
FAU - Skogseid, B
AU  - Skogseid B
FAU - Oberg, K
AU  - Oberg K
FAU - Werner, S
AU  - Werner S
FAU - Nordenskjold, M
AU  - Nordenskjold M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Proc Natl Acad Sci U S A
JT  - Proceedings of the National Academy of Sciences of the United States of America
JID - 7505876
SB  - IM
MH  - Adenoma/genetics
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - Female
MH  - *Genes
MH  - Genetic Carrier Screening
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia/*genetics
MH  - Parathyroid Neoplasms/genetics
MH  - Pituitary Neoplasms/genetics
PMC - PMC53606
EDAT- 1990/03/01 00:00
MHDA- 1990/03/01 00:01
PMCR- 1990/09/01
CRDT- 1990/03/01 00:00
PHST- 1990/03/01 00:00 [pubmed]
PHST- 1990/03/01 00:01 [medline]
PHST- 1990/03/01 00:00 [entrez]
PHST- 1990/09/01 00:00 [pmc-release]
AID - 10.1073/pnas.87.5.1968 [doi]
PST - ppublish
SO  - Proc Natl Acad Sci U S A. 1990 Mar;87(5):1968-72. doi: 10.1073/pnas.87.5.1968.