PMID- 9681840
OWN - NLM
STAT- MEDLINE
DCOM- 19980813
LR  - 20190905
IS  - 0954-6820 (Print)
IS  - 0954-6820 (Linking)
VI  - 243
IP  - 6
DP  - 1998 Jun
TI  - Identification and characterization of the multiple endocrine neoplasia type 1 
      (MEN1) gene.
PG  - 433-9
AB  - For nearly a decade since the mapping of the multiple endocrine neoplasia type 1 
      (MEN1) locus to 11q13 and the suggestion that it is a tumour suppressor gene, 
      efforts have been made to identify the gene responsible for this familial cancer 
      syndrome. Recently, we have identified the MEN1 gene by the positional cloning 
      approach. This effort involved construction of a 2.8-Mb physical map 
      (D11S480-D11S913) based primarily on a bacterial clone contig. Using these 
      resources, 20 new polymorphic markers were isolated which helped to reduce the 
      interval for candidate genes by haplotype analysis in families and by loss of 
      heterozygosity (LOH) studies in approximately 200 tumours, utilizing 
      laser-assisted microdissection to obtain tumour cells with minimal or no 
      admixture by normal cells. The interval was narrowed by LOH to only 300 kb, and 
      nearly 20 new transcripts that map to this region of 11q13 were isolated and 
      characterized. One of the transcripts was found by dideoxyfingerprinting and 
      cycle sequencing to harbour deleterious germline mutations in affected 
      individuals from MEN-1 kindreds and therefore identified as the MEN1 gene. The 
      type of germline mutations and the identification of mutations in sporadic 
      tumours support the Knudson's two-hit model of tumorigenesis for MEN-1. Efforts 
      are being made to identify the function of the MEN1 gene-encoded protein, menin, 
      and to study its role in tumorigenesis.
FAU - Guru, S C
AU  - Guru SC
AD  - Genetics and Molecular Biology Branch, NHGRI, National Institutes of Health, 
      Bethesda, MD 20892-4442, USA.
FAU - Manickam, P
AU  - Manickam P
FAU - Crabtree, J S
AU  - Crabtree JS
FAU - Olufemi, S E
AU  - Olufemi SE
FAU - Agarwal, S K
AU  - Agarwal SK
FAU - Debelenko, L V
AU  - Debelenko LV
LA  - eng
SI  - GENBANK/U93236
SI  - GENBANK/U93237
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Intern Med
JT  - Journal of internal medicine
JID - 8904841
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Cloning, Molecular/*methods
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Haplotypes
MH  - Humans
MH  - Loss of Heterozygosity/genetics
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation
EDAT- 1998/07/29 00:00
MHDA- 1998/07/29 00:01
CRDT- 1998/07/29 00:00
PHST- 1998/07/29 00:00 [pubmed]
PHST- 1998/07/29 00:01 [medline]
PHST- 1998/07/29 00:00 [entrez]
AID - 10.1046/j.1365-2796.1998.00346.x [doi]
PST - ppublish
SO  - J Intern Med. 1998 Jun;243(6):433-9. doi: 10.1046/j.1365-2796.1998.00346.x.