Biochemical type
-
Menin
is principally a nuclear protein. Marx
SJ, Agarwal SK, Heppner C, Kim YS, Kester MB, Goldsmith PK, Skarulis
MC, Spiegel AM, Burns AL, Debelenko LV, Zhuang Z, Lubensky IA, Liotta
LA, Emmert-Buck MR, Guru SC, Manickam P, Crabtree JS, Collins FS,
Chandrasekharappa SC.
|
Cell type distribution
|
Chromosome human
|
-
Genetic
alterations on 3p, 11q13, and 18q in nonfamilial and MEN 1-associated
pancreatic endocrine tumors. Hessman
O, Lindberg D, Einarsson A, Lillhager P, Carling T, Grimelius L,
Eriksson B, Akerstrom G, Westin G, Skogseid B.
|
|
-
The
MEN1 gene is on chromosome 11q13 Agarwal
SK, Debelenko LV, Kester MB, Guru SC, Manickam P, Olufemi SE, Skarulis
MC, Heppner C, Crabtree JS, Lubensky IA, Zhuang Z, Kim YS,
Chandrasekharappa SC, Collins FS, Liotta LA, Spiegel AM, Burns AL, Em
mert-Buck MR, Marx SJ.
|
-
The
MEN1 locus has been previously localised to chromosome 11q13, Lemmens
I, Van de Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N, De
Witte K, Salandre J, Lenoir G, Pugeat M, Calender A, Parente F,
Quincey D, Gaudray P, De Wit MJ, Lips CJ, Hoppener JW, Khodaei S,
Grant AL, Weber G , Kytola S, Teh BT, Farnebo F, Thakker RV, et al.
|
-
Localization
of the multiple endocrine neoplasia type I (MEN1) gene based on tumor
loss of heterozygosity analysis. Emmert-Buck
MR, Lubensky IA, Dong Q, Manickam P, Guru SC, Kester MB, Olufemi SE,
Agarwal S, Burns AL, Spiegel AM, Collins FS, Marx SJ, Zhuang Z, Liotta
LA, Chandrasekharappa SC, Debelenko LV.
|
|
-
Allelic
loss on chromosome 11 in hereditary and sporadic tumors related to
familial multiple endocrine neoplasia type 1. Bale
AE, Norton JA, Wong EL, Fryburg JS, Maton PN, Oldfield EH, Streeten E,
Aurbach GD, Brandi ML, Friedman E, et al.
|
|
|
Cis-Acting effect
-
2-bp
(TA) insertion at nucleotide position 341 (341insTA) in exon 2, which
shifts the reading frame such that the mutant protein has a completely
different amino acid sequence from codon 78 to the premature stop
codon at 119. Hamaguchi
K, Nguyen DC, Yanase T, Ikuyama S, Goto K, Takayanagi R, Nawata H,
Kusuda Y, Fukagawa K, Sakata T.
|
Clinical
-
Genetic,
clinical, and biochemical analysis of unrelated Spanish families with
multiple endocrine neoplasia type I. Chico
A, Gallart L, Martin-Campos JM, Catasus L, Mayoral C, Mato E, Tortosa
F, Berna L, Rodriguez-Espinosa J, Blanco-Vaca F, Matias-Guiu X, de
Leiva A, Mauricio D.
|
|
|
|
|
|
|
|
|
|
|
|
-
Genetic
screening of MEN1 and clinically related cases. Giraud
S, Zhang CX, Serova-Sinilnikova O, Wautot V, Salandre J, Buisson N,
Waterlot C, Bauters C, Porchet N, Aubert JP, Emy P, Cadiot G, Delemer
B, Chabre O, Niccoli P, Leprat F, Duron F, Emperauger B, Cougard P,
Goudet P, Sarfati E, Riou JP, Guichard S, Rodier M, Calender A, et al.
|
|
|
-
Characterization
of mutations in patients with multiple endocrine neoplasia type 1. Bassett
JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding
B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH,
Thakker RV.
|
|
-
Eighteen
new polymorphic markers in the multiple endocrine neoplasia type 1
(MEN1) region. Manickam
P, Guru SC, Debelenko LV, Agarwal SK, Olufemi SE, Weisemann JM,
Boguski MS, Crabtree JS, Wang Y, Roe BA, Lubensky IA, Zhuang Z, Kester
MB, Burns AL, Spiegel AM, Marx SJ, Liotta LA, Emmert-Buck MR, Collins
FS, Chandrasekharappa SC.
|
DNA Structure
|
|
|
|
-
Construction
of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the
multiple endocrine neoplasia type 1 (MEN1) gene. The European
Consortium on MEN1. Lemmens
I, Merregaert J, Van de Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V,
Buisson N, De Witte K, Salandre J, Lenoir G, Calender A, Parente F,
Quincey D, Courseaux A, Carle GF, Gaudray P, De Wit MJ, Lips CJ,
Hoppener JW, Khodaei S, Grant AL, Weber G, Kytola S, Thakker RV, et
al.
|
Function
|
|
|
|
-
Sequence
characterization showed that this gene encodes for the phospholipase C
beta 3, a key enzyme in signal transduction. Weber
G, Friedman E, Grimmond S, Hayward NK, Phelan C, Skogseid B, Gobl A,
Zedenius J, Sandelin K, Teh BT, et al.
|
Gene Frequencey (tumor)
-
Somatic
MEN1 mutation was found in sporadic tumors: parathyroid adenoma (21%),
gastrinoma (33%), insulinoma (17%), and bronchial carcinoid (36%). Marx
SJ, Agarwal SK, Kester MB, Heppner C, Kim YS, Skarulis MC, James LA,
Goldsmith PK, Saggar SK, Park SY, Spiegel AM, Burns AL, Debelenko LV,
Zhuang Z, Lubensky IA, Liotta LA, Emmert-Buck MR, Guru SC, Manickam P,
Crabtree J, Erdos MR, Collins FS, Chandrasekharappa SC.
|
-
Allelic
deletion of the MEN1 locus was identified in 18/49 (36.7%) tumors
(13/30, 43.3% in EPT and 5/19, 26.3% in NET) and mutations of the MEN1
gene were present in 8/52 (15.3%) tumors (4/30 (13.3%) EPT and 4/22
(18.1%) NET). Gortz
B, Roth J, Krahenmann A, de Krijger RR,
Muletta-Feurer S, Rutimann K, Saremaslani P, Speel EJ, Heitz
PU, Komminoth P.
|
Homologue
-
Characterization
of a MEN1 ortholog from Drosophila melanogaster. Guru
SC, Prasad NB, Shin EJ, Hemavathy K, Lu J, Ip YT, Agarwal SK, Marx SJ,
Spiegel AM, Collins FS, Oliver B, Chandrasekharappa SC.
|
-
Isolation,
genomic organization, and expression analysis of Men1, the murine
homolog of the MEN1 gene. 118: Guru
SC, Crabtree JS, Brown KD, Dunn KJ, Manickam P, Prasad NB, Wangsa D,
Burns AL, Spiegel AM, Marx SJ, Pavan WJ, Collins FS,
Chandrasekharappa SC.
|
|
Oncogenic Activation
|
|
Protein binding
|
-
The
MEN1 gene encodes a putative growth-suppressor protein, menin, binding
JunD, a transcriptional factor belonging to the AP-1 complex. Calender
A.
|
Protein Structure
|
|
|
Tumor gene type
|
|
|
|
-
MEN1
is a tumor suppressor gene insofar as stepwise mutational inactivation
of both copies can release a cell from normal growth suppression. Marx
SJ, Agarwal SK, Heppner C, Kim YS, Kester MB, Goldsmith PK, Skarulis
MC, Spiegel AM, Burns AL, Debelenko LV, Zhuang Z, Lubensky IA, Liotta
LA, Emmert-Buck MR, Guru SC, Manickam P, Crabtree JS, Collins FS,
Chandrasekharappa SC.
|
|
Tumor incidence
-
MEN1
gene mutations were identified in 9 of 27 (33%) sporadic gastrinomas
and 2 of 12 (17%) insulinomas. Zhuang
Z, Vortmeyer AO, Pack S, Huang S, Pham TA, Wang C, Park WS, Agarwal
SK, Debelenko LV, Kester M, Guru SC, Manickam P, Olufemi SE, Yu F,
Heppner C, Crabtree JS, Skarulis MC, Venzon DJ, Emmert-Buck MR,
Spiegel AM, Chandrasekharappa SC, Collins FS, Burns AL, Marx SJ,
Lubensky IA, et al.
|
Tumor type
-
Out
of 21 patients with MEN 1,Nine patients had gastrinomas, 5 had
nonfunctioning tumors, 4 had insulinomas, 2 had insulinomas and
gastrinomas, and 1 had a VIPoma Bartsch
DK, Langer P, Wild A, Schilling T, Celik I, Rothmund M, Nies C.
|
-
Somatic
MEN1 mutation was found in sporadic tumors: parathyroid adenoma (21%),
gastrinoma (33%), insulinoma (17%), and bronchial carcinoid (36%). Marx
SJ, Agarwal SK, Kester MB, Heppner C, Kim YS, Skarulis MC, James LA,
Goldsmith PK, Saggar SK, Park SY, Spiegel AM, Burns AL, Debelenko LV,
Zhuang Z, Lubensky IA, Liotta LA, Emmert-Buck MR, Guru SC, Manickam P,
Crabtree J, Erdos MR, Collins FS, Chandrasekharappa SC.
|
-
MEN1
proved to be the gene most frequent L4 mutated in common-variety,
nonhereditary parathyroid tumor, gastrinoma, insulinoma, or bronchial
carcinoid. Marx
SJ, Agarwal SK, Heppner C, Kim YS, Kester MB, Goldsmith PK, Skarulis
MC, Spiegel AM, Burns AL, Debelenko LV, Zhuang Z, Lubensky IA, Liotta
LA, Emmert-Buck MR, Guru SC, Manickam P, Crabtree JS, Collins FS,
Chandrasekharappa SC.
|
|
-
Twelve
unrelated (German MEN1 families and their associated tumors (5
parathyroid tumors, 1 vipoma, 1 gastrinoma, 1 insulinoma) were
characterized for MEN1 gene mutations. Bartsch
D, Kopp I, Bergenfelz A, Rieder H, Munch K, Jager K, Deiss Y, Schudy
A, Barth P, Arnold R, Rothmund M, Simon B.
|
|