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, Marx S J
Laboratory of Gene Transfer, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404.
Multiple endocrine neoplasia-type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by tumors in parathyroids, enteropancreatic endocrine tissues, and the anterior pituitary. DNA sequencing from a previously identified minimal interval on chromosome 11q13 identified several candidate genes, one of which contained 12 different frameshift, nonsense, missense, and in-frame deletion mutations in 14 probands from 15 families. The MEN1 gene contains 10 exons and encodes a ubiquitously expressed 2.8-kilobase transcript. The predicted 610-amino acid protein product, termed menin, exhibits no apparent similarities to any previously known proteins. The identification of MEN1 will enable improved understanding of the mechanism of endocrine tumorigenesis and should facilitate early diagnosis.
多发性内分泌腺瘤1型（MEN1）是一种常染色体显性遗传性家族性癌症综合征，其特征是甲状旁腺、肠胰腺内分泌组织和垂体前叶发生肿瘤。对先前确定的11号染色体q13最小间隔区域进行的DNA测序，确定了几个候选基因，其中一个基因在来自15个家庭的14名先证者中存在12种不同的移码突变、无义突变、错义突变和框内缺失突变。MEN1基因包含10个外显子，编码一种广泛表达的2.8千碱基转录本。预测的610个氨基酸的蛋白质产物称为menin，与任何先前已知的蛋白质均无明显相似性。MEN1的鉴定将有助于更好地理解内分泌肿瘤发生的机制，并应有助于早期诊断。
