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涉及PAX-5基因的t(9;14)(p13;q32):B细胞非霍奇金淋巴瘤中14q32易位的一种独特亚型。

t(9;14)(p13;q32) involving the PAX-5 gene: a unique subtype of 14q32 translocation in B cell non-Hodgkin's lymphoma.

作者信息

Amakawa R, Ohno H, Fukuhara S

机构信息

Department of Internal Medicine, Kansai Medical University, Osaka, Japan.

出版信息

Int J Hematol. 1999 Feb;69(2):65-9.

Abstract

Newly identified t(9;14)(p13;q32) is a subtype of the well-defined 14q32 translocation and is closely associated with lymphoplasmacytic lymphoma (Revised European-American Classification of Lymphoid Neoplasms). The analysis of the breakpoint of t(9;14) unraveled its molecular structure as being the recombination of the PAX-5 gene on 9p13 with IgH locus located on 14q32. The molecular event does not seem to cause structural alteration of the protein product of PAX-5 and, instead, its deregulation is most likely the essential outcome of this translocation. In vitro experiments have shown that the overexpression of PAX-5 resulted in enhanced proliferation of B cells, implicating its potential capacity for lymphomagenesis. PAX-5 is crucial during most developmental stages of B cells mainly through regulating the expression of a variety of genes. Therefore, elucidating the nature of the altered expression of these downstream genes as well as the PAX-5 gene itself would be indispensable in clarifying the precise mechanism of lymphomagenesis caused by t(9;14).

摘要

新发现的t(9;14)(p13;q32)是明确的14q32易位的一种亚型,与淋巴浆细胞淋巴瘤密切相关(修订的欧美淋巴肿瘤分类)。对t(9;14)断点的分析揭示了其分子结构为9p13上的PAX-5基因与14q32上的IgH基因座发生重组。该分子事件似乎并未导致PAX-5蛋白产物的结构改变,相反,其失调很可能是这种易位的关键结果。体外实验表明,PAX-5的过表达导致B细胞增殖增强,提示其在淋巴瘤发生中的潜在能力。PAX-5在B细胞的大多数发育阶段都至关重要,主要是通过调节多种基因的表达。因此,阐明这些下游基因以及PAX-5基因本身表达改变的性质,对于阐明由t(9;14)引起的淋巴瘤发生的确切机制必不可少。

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