Albarosa R, DiDonato S, Finocchiaro G
Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico C. Besta, Milano, Italy.
Hum Genet. 1995 Jun;95(6):709-11. doi: 10.1007/BF00209493.
The MXI1 gene encodes a protein interacting with Max, a regulatory factor of the Myc oncogene, and is located on chromosome 10q25, a region showing frequent loss of heterozygosity in malignant gliomas. We have reassessed the coding sequence of MXI1 and found that, at the 3' end, the open reading frame is 28 codons shorter than previously described. We have also found an AAAAC polymorphic repeat (two alleles, 45% heterozygosity) in the 3' non-coding region of the gene. Six anaplastic astrocytomas and nine glioblastomas, the most malignant form of glioma, were informative for this polymorphism. Loss of heterozygosity was demonstrated in all glioblastomas, but not in the remaining tumors.
MXI1基因编码一种与Max相互作用的蛋白质，Max是Myc癌基因的调控因子，该基因位于10q25染色体上，在恶性胶质瘤中该区域常出现杂合性缺失。我们重新评估了MXI1的编码序列，发现其3'端的开放阅读框比之前描述的短28个密码子。我们还在该基因的3'非编码区发现了一个AAAAC多态性重复序列（两个等位基因，杂合度为45%）。6例间变性星形细胞瘤和9例最恶性的胶质瘤——胶质母细胞瘤，对此多态性具有信息价值。在所有胶质母细胞瘤中均显示杂合性缺失，但在其余肿瘤中未发现。
