SITE-SPECIFIC RECOMBINATION OF THE TAL-1 GENE IS A COMMON OCCURRENCE IN HUMAN T-CELL LEUKEMIA
SITE-SPECIFIC RECOMBINATION OF THE TAL-1 GENE IS A COMMON OCCURRENCE IN HUMAN T-CELL LEUKEMIA
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DOI：
10.1002/j.1460-2075.1990.tb07535.x
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发表时间：
1990-10-01
期刊：
影响因子：
11.4
通讯作者：
BAER, R
中科院分区：
文献类型：
--
作者：
BROWN, L;CHENG, JT;BAER, R
tal1基因的改变是t(1;14) （p32:q11）染色体易位的结果，在3%的t细胞急性淋巴细胞白血病（t - all）患者中观察到。tal-1编码一个螺旋-环-螺旋（HLH）结构域，这是一个DNA结合和二聚化基元，存在于许多参与细胞生长和分化的蛋白质中。我们现在报道，另外25%的T-ALL患者携带tal1基因排列，这是核型分析无法检测到的。这些重排是由一个精确的90 kb缺失（称为tald）引起的，这种缺失在不同的患者中通过位点特异性DNA重组独立产生。由于缺失连接类似于组装的免疫球蛋白基因的编码连接，因此可能是由免疫球蛋白重组酶的异常活性介导的。此外，t(1;14)（p32;q11）易位和tal1的重排以同样的方式破坏了tal1的编码潜能，从而产生了相当比例的t - all患者共有的共同遗传病变。
The tal-1 gene is altered as a consequence of the t(1;14) (p32:q11) chromosome translocation observed in 3% of patients with T cell acute lymphoblastic leukemia (T-ALL). tal-1 encodes a helix-loop-helix (HLH) domain, a DNA binding and dimerization motif found in a number of proteins involved in cell growth and differentiation. We now report that an additional 25% of T-ALL patients bear tal-1 gene arrangements that are not detected by karyotype analysis. These rearrangements result from a precise 90 kb deletion (designated tald) that arises independently in different patients by site-specific DNA recombination. Since the deletion junctions resemble the coding joints of assembled immunoglobulin genes, tald rearrangements are likely to be mediated by aberrant activity of the immunoglobulin recombinase. Moreover, t(1;14)(p32;q11) translocations and tald rearrangements disrupt the coding potential of tal-1 in an equivalent manner, and thereby generate a common genetic lesion shared by a significant proportion of T-ALL patients.