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Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.
Hum Mol Genet. 1997 Jul; 6(7):1177-83.HM

Abstract

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.

Authors+Show Affiliations

Laboratory for Molecular Oncology and Flanders Interuniversity Institute for Biotechnology, Center for Human Genetics, KU Leuven, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9215690

Citation

Lemmens, I, et al. "Identification of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene. the European Consortium On MEN1." Human Molecular Genetics, vol. 6, no. 7, 1997, pp. 1177-83.
Lemmens I, Van de Ven WJ, Kas K, et al. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet. 1997;6(7):1177-83.
Lemmens, I., Van de Ven, W. J., Kas, K., Zhang, C. X., 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, M. J., Lips, C. J., Höppener, J. W., Khodaei, S., ... Thakker, R. V. (1997). Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Human Molecular Genetics, 6(7), 1177-83.
Lemmens I, et al. Identification of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene. the European Consortium On MEN1. Hum Mol Genet. 1997;6(7):1177-83. PubMed PMID: 9215690.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. A1 - Lemmens,I, AU - Van de Ven,W J, AU - Kas,K, AU - Zhang,C X, AU - Giraud,S, AU - Wautot,V, AU - Buisson,N, AU - De Witte,K, AU - Salandre,J, AU - Lenoir,G, AU - Pugeat,M, AU - Calender,A, AU - Parente,F, AU - Quincey,D, AU - Gaudray,P, AU - De Wit,M J, AU - Lips,C J, AU - Höppener,J W, AU - Khodaei,S, AU - Grant,A L, AU - Weber,G, AU - Kytölä,S, AU - Teh,B T, AU - Farnebo,F, AU - Thakker,R V, PY - 1997/7/1/pubmed PY - 1997/7/1/medline PY - 1997/7/1/entrez SP - 1177 EP - 83 JF - Human molecular genetics JO - Hum Mol Genet VL - 6 IS - 7 N2 - 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. SN - 0964-6906 UR - https://www.unboundmedicine.com/medline/citation/9215690/Identification_of_the_multiple_endocrine_neoplasia_type_1__MEN1__gene__The_European_Consortium_on_MEN1_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/6.7.1177 DB - PRIME DP - Unbound Medicine ER -