THE HUMAN HOMOLOG OF MURINE EVI-2 LIES BETWEEN 2 VONRECKLINGHAUSEN NEUROFIBROMATOSIS TRANSLOCATIONS
THE HUMAN HOMOLOG OF MURINE EVI-2 LIES BETWEEN 2 VONRECKLINGHAUSEN NEUROFIBROMATOSIS TRANSLOCATIONS
复制标题
DOI：
10.1016/0888-7543(90)90198-4
复制
发表时间：
1990-08-01
期刊：
影响因子：
4.4
通讯作者：
WHITE, R
中科院分区：
文献类型：
--
作者：
OCONNELL, P;VISKOCHIL, D;WHITE, R
Von Recklinghausen神经纤维瘤病（NF 1）是人类最常见的遗传性疾病之一。携带导致NF 1突变的基因座位于17号染色体的着丝粒附近，q11.2带内。在两名NF 1患者的这一区域发现的易位断点提供了物理标志，并提出了一种鉴定NF 1基因的方法。作为我们探索这一区域的一部分，我们已经将与髓系肿瘤有关的鼠基因（Evi-2）的人类同源物映射到17号染色体上两个易位断点之间的位置。Cosmid-walk克隆在两个NF 1易位断点之间定义了一个60 kb区域。Evi-2在小鼠肿瘤性疾病中的可能作用和人类同源物的地图位置表明EV 12在NF 1中的潜在作用，但在87例NF 1患者中该基因位点没有明显的物理重排。
Von Recklinghausen neurofibromatosis (NF1) is one of the most common inherited human disorders. The genetic locus that harbors the mutation(s) responsible for NF1 is near the centromere of chromosome 17, within band q11.2. Translocation breakpoints that have been found in this region in two patients with NF1 provide physical landmarks and suggest an approach to identifying the NF1 gene. As part of our exploration of this region, we have mapped the human homolog of a murine gene (Evi-2) implicated in myeloid tumors to a location between the two translocation breakpoints on chromosome 17. Cosmid-walk clones define a 60-kb region between the two NF1 translocation breakpoints. The probable role of Evi-2 in murine neoplastic disease and the map location of the human homolog suggest a potential role for EV12 in NF1, but no physical rearrangements of this gene locus are apparent in 87 NF1 patients.