A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1

Japanese Journal of Cancer Research

Volumn 89, Issue 1, 1998, Pages 1-5

  Kishi, Mari ^a   Tsukada, Toshihiko ^a   Shimizu, Satoko ^a   Futami, Hitoyasu ^a   Ito, Yukio ^b   Kanbe, Masako ^b   Obara, Takao ^b   Yamaguchi, Ken ^a  

^a NATIONAL CANCER CENTER RESEARCH INSTITUTE   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

DNA testing; Gene dosage; MEN1; Multiple endocrine neoplasia type 1; Tumor suppressor gene

Indexed keywords

DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FAMILIAL CANCER; GENE DELETION; GENE DOSAGE; GERM LINE; HETEROZYGOSITY; HUMAN; MALE; MULTIPLE ENDOCRINE NEOPLASIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

EID: 0031937031     PISSN: 09105050     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1349-7006.1998.tb00470.x     Document Type: Article

References (18)

1. Yamaguchi, K., Kameya, T. and Abe, K. Multiple endocrine neoplasia type 1. Clin. Endocrinol. Metab., 9, 261-284 (1980).
2. Trump, D., Farren, B., Wooding, C., Pang, J. T., Besser, G. M., Buchanan, K. D., Edwards, C. R., Heath, D. A., Jackson, C. E., Jansen, S., Lips, K., Monson, J. P., O'Halloran, D., Sampson, J., Shalet, S. M., Wheeler, M. H., Zink, A. and Thakker, R. V. Clinical studies of multiple endocrine neoplasia type 1 (MEN 1 ). Q. J. Med., 89, 653-669 (1996).
3. Chandrasekharappa, S. C., Guru, S. C., Manickam, P., Olufemi, S.-E., Collins, F. S., Emmert-Buck, M. R., Debelenko, L. V., Zhuang, Z., Lubensky, I. A., Liotta, L. A., Crabtree, J. S., Wang, Y., Roe, B. A., Weisemann, J., Boguski, M. S., Agarwal, S. K., Kester, M. B., Kim, Y. S., Heppner, C., Dong, Q., Spiegel, A. M., Burns, A. L. and Marx, S. J. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science, 276, 404-407 (1997).
4. Larsson, C., Skogseid, B., Öberg, K., Nakamura, Y. and Nordenskjöld, M. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature, 332, 85-87 (1988).
5. Agarwal, S. K., Kester, M. B., Debelenko, L. V., Heppner, C., Emmert-Buck, M. R., Skarulis, M. C., Doppman, J. L., Kim, Y. S., Lubensky, I. A., Zhuang, Z., Green, J. S., Guru, S. C., Manickam, P., Olufemi, S.-E., Liotta, L. A., Chandrasekharappa, S. C., Collins, F. S., Spiegel, A. M., Burns, A. L. and Marx, S. J. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum. Mol. Genet., 6, 1169-1175 (1997).
6. The European Consortium on MEN1. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. Hum. Mol. Genet., 6, 1177-1183 (1997).
7. Shimizu, S., Tsukada, T., Futami, H., Ui, K., Kameya, T., Kawanaka, M., Uchiyama, S., Aoki, A., Yasuda, H., Kawano, S., Ito, Y., Kanbe, M., Obara, T. and Yamaguchi, K. Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1. Jpn. J. Cancer Res., 88, 1029-1032 (1997).
8. Aoki, A., Tsukada, T., Yasuda, H., Kayashima, S., Nagase, T., Ito, T., Suzuki, T., Matsukuma, S., Kuwabara, N., Yoshimoto, K. and Yamaguchi, K. Multiple endocrine neoplasia type 1 presented with manic-depressive disorder: a case report with an identified MEN1 gene mutation. Jpn. J. Clin. Oncol., 27, 419-422 (1997).
9. Deng, G., Yu, M. and Smith, H. S. An improved method of competitive PCR for quantitation of gene copy number. Nucleic Acids Res., 21, 4848-4849 (1993).
10. Celi, F. S., Cohen, M. M., Antonarakis, S. E., Wertheimer, E., Roth, J. and Shuldiner, A. R. Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): rapid detection of deletions and duplications of gene sequences. Genomics, 21, 304-310 (1994).
11. Chang, C., Kokontis, J., Liao, S. S. and Chang, Y. Isolation and characterization of human TR3 receptor: a member of steroid receptor superfamily. J. Steroid Biochem., 34, 391-395 (1989).
12. Hazel, T. G., Nathans, D. and Lau, L. F. A gene inducible by serum growth factors encodes a member of the steroid and thyroid hormone receptor superfamily. Proc. Natl. Acad. Sci. USA, 85, 8444-8448 (1988).
13. Heppner, C., Kester, M. B., Agarwal, S. K., Debelenko, L. V., Emmert-Buck, M. R., Guru, S. C., Manickam, P., Olufemi, S.-E., Skarulis, M. C., Doppman, J. L., Alexander, R. H., Kim, Y. S., Saggar, S. K., Lubensky, I. A., Zhuang, Z., Liotta, L. A., Chandrasekharappa, S. C., Collins, F. S., Spiegel, A. M., Burns, A. L. and Marx, S. J. Somatic mutation of the MEN1 gene in parathyroid tumours. Nat. Genet., 16, 375-378 (1997).
14. Guru, S. C., Olufemi, S.-E., Manickam, P., Cummings, C., Gieser, L. M., Pike, B. L., Bittner, M. L., Jiang, Y., Chinault, A. C., Nowak, N. J., Brzozowska, A., Crabtree, J. S., Wang, Y., Roe, B. A., Weisemann, J. M., Boguski, M. S., Agarwal, S. K., Burns, A. L., Spiegel, A. M., Marx, S. J., Flejter, W. L., de Jong, P. J., Collins, F. S. and Chandrasekharappa, S. C. A 2.8-Mb clone contig of the multiple endocrine neoplasia type 1 (MEN 1) region at 11q13. Genomics, 42, 436-445 (1997).
15. Kitamura, E., Hosoda, F., Fukushima, M., Asakawa, S., Shimizu, N., Imai, T., Soeda, E. and Ohki, M. A 3-Mb sequence-ready contig map encompassing the multiple disease gene cluster on chromosome 11q13.1-q13.3. DNA Res., 4, 281-289 (1997).
16. Watson, C. J., Gaunt, L., Evans, G., Patel, K., Harris, R. and Strachan, T. A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukemia inhibitory factor locus. Hum. Mol. Genet., 2, 701-704 (1993).
17. Davis, L. M., Stallard, R., Thomas, G. H., Couillin, P., Junien, C., Nowak, N. J. and Shows, T. B. Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci. Science, 241, 840-842 (1988).
18. Nyström-Lahti, M., Kristo, P., Nicolaides, N. C., Chang, S.-Y., Aaltonen, L. A., Moisio, A.-L., Järvinen, H. J., Mecklin, J.-P., Kinzler, K. W., Vogelstein, B., De la Chapelle, A. and Peltomäki, P. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat. Med., 1, 1203-1206 (1995).