Heisterkamp N, Morris C, Groffen J
Section of Molecular Diagnosis, Childrens Hospital, Los Angeles, CA 90027.
Nucleic Acids Res. 1989 Nov 11;17(21):8821-31. doi: 10.1093/nar/17.21.8821.
The human BCR gene on chromosome 22 is specifically involved in the Philadelphia translocation, t(9;22), a chromosomal rearrangement present in the leukemic cells of patients with chronic myeloid leukemia or acute lymphoblastic leukemia. In most cases, the breakpoints on chromosome 22 are found within a 5.8 kb region of DNA designated the major breakpoint cluster region (Mbcr) of the BCR gene. Hybridization experiments have indicated that the human genome contains BCR gene-related sequences. Here we report the molecular cloning of one of these loci, for which we propose the name ABR. In contrast with the other BCR-related genes studied to date, ABR represents a functionally active gene and contains exons very similar to those found within the Mbcr. Unlike the BCR gene, the ABR gene exhibits great genomic variability caused by two different variable tandem repeat regions located in two introns. All other BCR gene-related sequences isolated so far and the BCR gene itself are located on chromosome 22. In contrast, the ABR gene is located on chromosome 17p.
位于22号染色体上的人类BCR基因特别涉及费城染色体易位，即t(9;22)，这是一种存在于慢性髓性白血病或急性淋巴细胞白血病患者白血病细胞中的染色体重排。在大多数情况下，22号染色体上的断点位于一个5.8 kb的DNA区域内，该区域被指定为BCR基因的主要断点簇区域（Mbcr）。杂交实验表明，人类基因组包含与BCR基因相关的序列。在此，我们报告其中一个位点的分子克隆，我们将其命名为ABR。与迄今为止研究的其他BCR相关基因不同，ABR代表一个功能活跃的基因，并且包含与Mbcr中发现的外显子非常相似的外显子。与BCR基因不同，ABR基因由于位于两个内含子中的两个不同的可变串联重复区域而表现出很大的基因组变异性。到目前为止分离出的所有其他与BCR基因相关的序列以及BCR基因本身都位于22号染色体上。相比之下，ABR基因位于17号染色体短臂上。
