The human RIL gene:: mapping to human chromosome 5q31.1, genomic organization and alternative transcripts
The human RIL gene:: mapping to human chromosome 5q31.1, genomic organization and alternative transcripts
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DOI：
10.1016/s0378-1119(98)00080-8
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发表时间：
1998-04-14
期刊：
影响因子：
3.5
通讯作者：
Frolova, EI
中科院分区：
文献类型：
--
作者：
Bashirova, AA;Markelov, ML;Frolova, EI
在大鼠成纤维细胞(Kiess，M.，Scharm，B.，Aguzzi，A.，Hajnul，A.，Klemenz，R.，Schwarte-Waldhoff，I.，Schafer，R.，1995)中，编码未知功能的LIM结构域蛋白的rIL基因被鉴定为候选抑癌基因。RIL是一个新的LIM结构域基因，在HRAS转化的细胞中表达下调，并在表型逆转株中恢复表达。癌基因10，61-68)。通过对人染色体5q31.1上新基因的筛选，我们获得了一个与人rIL基因同源的克隆(GenBank登录号：X93510)。人类5q31.1区域包含细胞因子基因簇，在骨髓异常增生症和髓系白血病患者的恶性细胞中经常缺失，因此具有重要意义。通过对酵母人工染色体(YAC)和粘粒克隆的Southern杂交分析和限制性内切酶图谱分析，我们将人RIL基因240-260 kb的端粒定位于IRF1基因，并对其基因组结构进行了分析。聚合酶链式反应分析表明，人胎脑中存在两种不同的RTL转录本。该基因的主要转录本与GenBank中的RIL基因完全相同，包含7个外显子，分布在14.5kb的基因组DNA上，最后两个外显子编码一个LIM结构域。与主要转录本相比，次要转录本缺少第六外显子，导致LIM结构域的缺失。我们还鉴定了两个假定的转录起始点(TSP)，并对RIL的5‘侧翼区进行了测序，以揭示潜在的转录因子结合位点。(C)1998年爱思唯尔科学公司。
The ril gene encoding a LIM domain protein of an unknown function was previously identified by differential expression cloning as a candidate tumor suppressor gene in rat fibroblasts (Kiess, M., Scharm, B., Aguzzi, A., Hajnal, A., Klemenz, R., Schwarte-Waldhoff, I., Schafer, R., 1995. Expression of ril, a novel LIM domain gene, is down-regulated in HRAS-transformed cells and restored in phenotypic revertants. Oncogene 10, 61-68). Searching for novel genes on human chromosome 5q31.1 by the cDNA selection technique, we isolated a cDNA clone identical with the cDNA of the human RIL gene (GenBank Accession No. X93510). The human 5q31.1 region is of interest because it contains the cytokine gene cluster and is frequently deleted in the malignant cells of patients with myelodysplasia and myeloid leukemia. Using Southern blot analysis and restriction mapping of genomic YAC (yeast artificial chromosome) and cosmid clones, we located the human RIL gene 240-260 kb telomeric to the IRF1 gene and characterized its genomic structure. PCR analysis indicated the presence of two alternative RTL transcripts in human fetal brain mRNA. The major transcript is identical with the RIL cDNA previously deposited in GenBank and contains seven exons distributed over 14.5 kb of genomic DNA with the two last 3'-exons coding a LIM domain. The minor transcript lacks the sixth exon compared with the major transcript, which leads to the loss of the LIM domain. We also identified two putative transcription start points (tsp) and sequenced the 5'-flanking region of RIL to reveal potential binding sites for transcriptional factors. (C) 1998 Elsevier Science B.V.