Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

Authors: 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 
Citation: Lemmens I, etal., Hum Mol Genet. 1997 Jul;6(7):1177-83.
Pubmed: (View Article at PubMed) PMID:9215690

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes. The MEN1 locus has been previously localised to chromosome 11q13, and a <300 kb gene-rich region flanked centromerically by PYGM and telomerically by D11S1783 defined by combined meiotic and tumour deletion mapping studies. Two candidate genes, ZFM1 and PPP2R5B, from this region have been previously excluded, and in order to identify additional candidate genes we used a BAC to isolate cDNAs from a bovine parathyroid cDNA library by direct selection. One of the novel genes that we identified, SCG2, proved to be identical to the recently published MEN1 gene, which is likely to be a tumour suppressor gene. The SCG2 transcript was 2.9 kb in all tissues with an additional 4.2 kb transcript also being present in the pancreas and thymus. Mutational analysis of SCG2 in 10 unrelated MEN1 families identified one polymorphism and nine different heterozygous mutations (one missense, four non-sense, one insertional and three deletional frameshifts) that segregated with the disease, hence providing an independent confirmation for the identification of the MEN1 gene.

Annotation

Disease Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 1601327
Created: 2007-04-16
Species: All species
Last Modified: 2007-04-16
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.