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通过t(3; 11)(q27; q23)染色体易位导致LAZ3/BCL6基因与BOB1/OBF1基因融合。

Fusion of the LAZ3/BCL6 and BOB1/OBF1 genes by t(3; 11) (q27; q23) chromosomal translocation.

作者信息

Galiègue-Zouitina S, Quief S, Hildebrand M P, Denis C, Lecocq G, Collyn-d'Hooghe M, Bastard C, Yuille M, Dyer M J, Kerckaert J P

机构信息

INSERM U. 124, Institut de recherches sur le cancer de Lille, France.

出版信息

C R Acad Sci III. 1995 Nov;318(11):1125-31.

PMID:8574789
Abstract

The LAZ3/BCL6 gene on chromosome 3q27 is recurrently disrupted in B-cell non Hodgkin's lymphomas by translocations involving immunoglobulin genes or other chromosome regions. We have studied the t(3; 11) (q27; q23) translocation, present in a B-cell leukemia cell line (Karpas 231). As a consequence of this translocation, a LAZ3 chimeric transcript was created by fusion, 5' to the LAZ3 exon 2, with a transcribed sequence identical to BOB1/OBF1, a B cell-specific coactivator of octamer-binding transcription factors, recently described. Nucleotidic sequence of a nearly full-length cDNA of the BOB1/OBF1 gene revealed particular features in the 3' untranslated region of the gene, including pyrimidine-rich sequence repeats, an Alu motif, and a polymorphic [CCTT] tetranucleotide microsatellite. Two A to G transition mutations were also detected in the coding region of one allele of a lymphoma B-cell line, Raji, leading to 2 amino-acid changes in the C-terminal region. Due to its cell-specificity and role as a coactivating transcription factor, chromosomal translocation and/or perhaps point mutation of BOB1/OBF1 may contribute to B cell tumorigenesis.

摘要

位于3q27染色体上的LAZ3/BCL6基因,在B细胞非霍奇金淋巴瘤中常因涉及免疫球蛋白基因或其他染色体区域的易位而发生破坏。我们研究了存在于B细胞白血病细胞系(Karpas 231)中的t(3; 11) (q27; q23)易位。由于这种易位,在LAZ3外显子2的5'端,通过与一个转录序列融合产生了一个LAZ3嵌合转录本,该转录序列与最近描述的八聚体结合转录因子的B细胞特异性共激活因子BOB1/OBF1相同。BOB1/OBF1基因几乎全长cDNA的核苷酸序列揭示了该基因3'非翻译区的特殊特征,包括富含嘧啶的序列重复、一个Alu基序和一个多态性的[CCTT]四核苷酸微卫星。在淋巴瘤B细胞系Raji的一个等位基因的编码区也检测到两个A到G的转换突变,导致C末端区域有两个氨基酸变化。由于其细胞特异性以及作为共激活转录因子的作用,BOB1/OBF1的染色体易位和/或可能的点突变可能有助于B细胞肿瘤的发生。

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