一种新的类肌动蛋白结合蛋白、埃兹蛋白、根蛋白样基因是2型神经纤维瘤病肿瘤抑制基因的候选基因。
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.
作者信息
Trofatter J A, MacCollin M M, Rutter J L, Murrell J R, Duyao M P, Parry D M, Eldridge R, Kley N, Menon A G, Pulaski K
机构信息
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown.
出版信息
Cell. 1993 Mar 12;72(5):791-800. doi: 10.1016/0092-8674(93)90406-g.
Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by the occurrence of bilateral vestibular schwannomas and other central nervous system tumors including multiple meningiomas. Genetic linkage studies and investigations of both sporadic and familial tumors suggest that NF2 is caused by inactivation of a tumor suppressor gene in chromosome 22q12. We have identified a candidate gene for the NF2 tumor suppressor that has suffered nonoverlapping deletions in DNA from two independent NF2 families and alterations in meningiomas from two unrelated NF2 patients. The candidate gene encodes a 587 amino acid protein with striking similarity to several members of a family of proteins proposed to link cytoskeletal components with proteins in the cell membrane. The NF2 gene may therefore constitute a novel class of tumor suppressor gene.
神经纤维瘤病2型(NF2)是一种显性遗传性疾病,其特征是双侧前庭神经鞘瘤以及包括多发性脑膜瘤在内的其他中枢神经系统肿瘤的发生。遗传连锁研究以及对散发性和家族性肿瘤的调查表明,NF2是由22q12染色体上一个肿瘤抑制基因的失活引起的。我们已经鉴定出一个NF2肿瘤抑制候选基因,该基因在来自两个独立NF2家族的DNA中发生了非重叠缺失,并且在两名无关NF2患者的脑膜瘤中发生了改变。该候选基因编码一种587个氨基酸的蛋白质,与一类被认为将细胞骨架成分与细胞膜中的蛋白质联系起来的蛋白质家族的几个成员具有惊人的相似性。因此,NF2基因可能构成一种新型的肿瘤抑制基因。