A balanced translocation between chromosomes 12 and 14 is commonly seen in
uterine leiomyoma (UL). We have previously cloned and characterized a 2 Mb
segment of human chromosomal subband 14q24.1, and have shown that the t(12;
14)(q15;q24.1) breakpoints from several ULs map within this region. Exon tr
apping of DNA clones spanning one such breakpoint revealed coding sequences
from hREC2, a gene that shows significant amino acid sequence identity to
the double-strand break repair enzyme RAD51. We report here that this break
point is located within a 19 kb intron of the hREC2 gene and that the trans
location results in the premature truncation of the major hREC2 transcript.
Mapping and sequence analyses show that alternative transcripts of the hRE
C2 gene, including novel isoforms identified in testis and uterus, are not
interrupted by the translocation. (C) Elsevier Science Inc., 1999. All righ
ts reserved.