Kuo S S, Mellentin J D, Copeland N G, Gilbert D J, Jenkins N A, Cleary M L
Department of Pathology, Stanford University School of Medicine, California 94305.
Oncogene. 1991 Jun;6(6):961-8.
The mouse Lyl-1 gene was cloned and shown to consist of four exons with extensive nucleotide and structural homology to the human LYL1 gene. The Lyl-1 gene was localized to the central region of mouse chromosome 8 which defines a new region of synteny with human chromosome 19p. The predicted mouse Lyl-1 protein is 78% identical to human LYL1. The region of highest similarity occurs in the basic DNA binding and helix-loop-helix dimerization motifs which are nearly identical in mouse and man differing by only one conservative amino acid substitution. Expression of the Lyl-1 gene was found to be low in murine spleen and undetectable in other tissues by Northern blot analysis. In lymphoid cell lines, Lyl-1 was expressed in most B lineage cells but downregulated during terminal differentiation and was not expressed in most T lineage cells. In a human T ALL cell line carrying a translocation that juxtaposed LYL1 with the beta TCR gene, the translocated LYL1 gene was transcriptionally active whereas the nontranslocated gene was transcriptionally silent. We conclude that LYL1 has the properties of a lineage- and differentiation-specific HLH protein that contributes to T-cell neoplasia through its deregulated expression following chromosomal translocation.
小鼠Lyl-1基因被克隆出来,结果显示它由四个外显子组成,与人类LYL1基因在核苷酸和结构上具有广泛的同源性。Lyl-1基因定位于小鼠8号染色体的中央区域,该区域确定了与人类19号染色体短臂的一个新的同线性区域。预测的小鼠Lyl-1蛋白与人类LYL1的同源性为78%。相似性最高的区域出现在基本DNA结合和螺旋-环-螺旋二聚化基序中,小鼠和人类的这些基序几乎相同,仅相差一个保守氨基酸替换。通过Northern印迹分析发现,Lyl-1基因在小鼠脾脏中的表达较低,在其他组织中无法检测到。在淋巴样细胞系中,Lyl-1在大多数B谱系细胞中表达,但在终末分化过程中下调,在大多数T谱系细胞中不表达。在一个携带使LYL1与βTCR基因并列的易位的人类T-ALL细胞系中,易位的LYL1基因具有转录活性,而非易位基因转录沉默。我们得出结论,LYL1具有谱系和分化特异性HLH蛋白的特性,通过染色体易位后其表达失调而导致T细胞肿瘤形成。