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Gene : LOC107963955 Homo sapiens

Name  ? BCR-ABL major-breakpoint cluster region Cytological Location  22q11.23
description  This region is known to undergo mitotic DNA recombination with another region, the ABL breakpoint region, located on the q arm of chromosome 9. Recombination between these two regions can result in a translocation known as the t(9;22)(q34;q11) rearrangement, and can produce gene fusions involving the BCR, RhoGEF and GTPase activating protein (BCR) gene and the ABL proto-oncogene 1, non-receptor tyrosine kinase (ABL1) gene. Several different BCR-ABL gene fusions have been observed, resulting from recombination with different regions within BCR. The region described here is the most commonly observed recombination event, involving recombination with the major-breakpoint cluster region. The smaller derivative chromosome resulting from this translocation is commonly known as the Philadelphia (Ph) chromosome. Different chimeric BCR-ABL transcripts have been observed as a result of recombination between these regions. The presence of the e13a2 and e14a2 transcripts has been associated with chronic myelogenous leukemia (CML), and the majority of individuals with CML harbor this translocation. The e13a2 and e14a2 transcripts are also observed in some individuals with acute lymphoblastic leukemia (ALL) and a minority of individuals with acute myelogenous leukemia (AML). Recombination within exon 15 has also been observed, and results in a transcript known as e15a2. Individuals with this chimeric transcript had a normal karyotype, but were found to have atypical chronic myeloproliferative disorder. However, a larger sample size is required to confirm this result. In some cases, analysis of recombination breakpoints is consistent with recombination occurring through a non-homologous end joining (NHEJ) pathway. A mechanism to explain this recombination event has yet to be determined, but it has been noted that BCR and ABL tend to be in close physical proximity during cell division in hematopoietic stem cells. This close proximity could provide opportunities for aberrant recombination in the event of double-strand break formation. [provided by RefSeq, May 2016]
  • identifiers:
  • 107963955,
  • LOC107963955

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 22q11.23


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