PMID- 9066984 OWN - NLM STAT- MEDLINE DCOM- 19970703 LR - 20191101 IS - 1077-3150 (Print) IS - 1077-3150 (Linking) VI - 60 IP - 1 DP - 1997 Feb TI - Exclusion of the nuclear factor-kappa B3 (REL A) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) gene. PG - 76-9 AB - Multiple endocrine neoplasia type 1 (MEN 1) is inherited as an autosomal dominant disorder, characterized by neoplasia and hyperplasia in specific endocrine organs. The MEN 1 gene, which is most probably a tumor suppressor gene, has been localized to a region of approximately 900 kb on chromosome 11q13. The nuclear factor-kappa B (NF-kappa B) is a transcription factor with pleiotropic expression, which is involved in the regulation of expression of many cellular genes. The p50/p65 heterodimer is the most abundant form of NF-kappa B. The gene encoding the p65 subunit (NF-kappa B3/REL A) was recently localized in the 900-kb MEN 1 region and was considered a good candidate gene for MEN 1. The structure and nucleotide sequence of the NF-kappa B3 coding region in MEN 1 patients were compared with those of non-MEN 1 subjects, to determine the potential role of this gene in MEN 1 tumorigenesis. Southern blot analysis with constitutional DNA from probands of 14 independent MEN 1 families and DNA from four MEN 1 tumor specimens did not reveal any structural abnormality of the NF-kappa B3 gene. Direct sequencing of cDNAs from two affected subjects from 2 different MEN 1 families, as well as nucleotide sequence analysis of exon/intron boundaries in these patients, did not reveal MEN 1-specific point mutations or other small structural aberrations in the NF-kappa B3 gene. These results make it very unlikely that the NF-kappa B3 gene is the gene responsible for the development of MEN 1. FAU - Landsvater, R M AU - Landsvater RM AD - Department of Internal Medicine, University Hospital Utrecht, The Netherlands. FAU - de Wit, M J AU - de Wit MJ FAU - Peterson, L F AU - Peterson LF FAU - Sinke, R J AU - Sinke RJ FAU - Geurts van Kessel, A AU - Geurts van Kessel A FAU - Lips, C J AU - Lips CJ FAU - Hoppener, J W AU - Hoppener JW LA - eng SI - GENBANK/Z22948 SI - GENBANK/Z22949 SI - GENBANK/Z22950 SI - GENBANK/Z22951 SI - GENBANK/Z22952 SI - GENBANK/Z22953 SI - GENBANK/Z22954 PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Biochem Mol Med JT - Biochemical and molecular medicine JID - 9508702 RN - 0 (DNA, Complementary) RN - 0 (DNA, Neoplasm) RN - 0 (NF-kappa B) RN - 0 (Nuclear Proteins) RN - 0 (Transcription Factor RelA) SB - IM MH - Base Sequence MH - DNA, Complementary MH - DNA, Neoplasm/*analysis MH - Humans MH - Molecular Sequence Data MH - Multiple Endocrine Neoplasia Type 1/*genetics MH - NF-kappa B/*genetics MH - Nuclear Proteins/*genetics MH - Transcription Factor RelA EDAT- 1997/02/01 00:00 MHDA- 1997/02/01 00:01 CRDT- 1997/02/01 00:00 PHST- 1997/02/01 00:00 [pubmed] PHST- 1997/02/01 00:01 [medline] PHST- 1997/02/01 00:00 [entrez] AID - S1077315096925612 [pii] AID - 10.1006/bmme.1996.2561 [doi] PST - ppublish SO - Biochem Mol Med. 1997 Feb;60(1):76-9. doi: 10.1006/bmme.1996.2561.