Comprehensive analysis of a large genomic sequence at the putative B-cell chronic lymphocytic leukaemia (B-CLL) tumour suppresser gene locus

Gaëlle Rondeau , Isabelle Moreau , Stéphane Bézieau , Jean-Louis Petit , Roland Heilig , Sylvaine Fernandez , Erwan Pennarun , Jeremy S. Myers , Mark A. Batzer , Jean-Paul Moisan , Marie-Claire Devilder
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引用次数: 29

Abstract

In many haematological diseases, and more particularly in B-cell chronic lymphocytic leukaemia (B-CLL), the existence of a tumour suppressor gene located within the frequently deleted region 13q14.3, has been put forward. A wide candidate region spanning from marker D13S273 to D13S25 has been proposed and an extensive physical map has been constructed by several teams. In this study, we sequenced a minimal core deleted region that we have previously defined and annotated it with flanking available public sequences. Our analysis shows that this region is gene-poor. Furthermore, our work allowed us to identify new alternative transcripts, spanning core regions, of the previously defined candidate genes DLEU1 and DLEU2. Since their putative involvement in B-CLL was controversial, our present study provide support for reconsidering the DLEU1 and DLEU2 genes as B-CLL candidate genes, with a new definition of their organisation and context.

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对假定的B细胞慢性淋巴细胞白血病(B-CLL)肿瘤抑制基因座的大基因组序列的综合分析。
在许多血液病中,特别是在b细胞慢性淋巴细胞白血病(B-CLL)中,已经提出了位于经常缺失的13q14.3区域的肿瘤抑制基因的存在。多个团队提出了从标记D13S273到D13S25的广泛候选区域,并构建了广泛的物理地图。在这项研究中,我们对一个最小的核心缺失区域进行了测序,我们之前已经定义了这个区域,并用其侧面的可用公共序列对其进行了注释。我们的分析表明这个区域是基因贫乏的。此外,我们的工作使我们能够识别新的替代转录本,跨越先前定义的候选基因DLEU1和DLEU2的核心区域。由于对其参与B-CLL的假设存在争议,我们目前的研究为重新考虑DLEU1和DLEU2基因作为B-CLL候选基因提供了支持,并对其组织和背景进行了新的定义。
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VOLUME CONTENTS Comprehensive analysis of a large genomic sequence at the putative B-cell chronic lymphocytic leukaemia (B-CLL) tumour suppresser gene locus Mutational analysis within the 3′ region of the PKD1 gene in Japanese families Allelic polymorphisms in the transcriptional regulatory region of human SEL1L CUMULATIVE AUTHOR INDEX FOR MUTNOM 2000
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