GENOMIC AND FUNCTIONAL MAP OF THE CHROMOSOME-14 T(12-14) BREAKPOINT CLUSTER REGION IN UTERINE LEIOMYOMA

A translocation involving chromosomes 12 and 14 [t(12;14)(q15;24.1)] i s commonly seen in benign smooth muscle tumor as uterine leiomyoma (UL ). A contig of Pi-derived artificial chromosome and bacterial artifici al chromosome clones on chromosome 14, encompassing a t(12;14) breakpo int cluster region (BCR) in UL, was generated principally using the re cently developed HAPPY map of chromosome 14 as a framework (P. H. Dear et al., 1998, Genomics 48: 232-241). Three UL t(12;14) breakpoints ha ve been localized within this contig, showing that a BCR of at least 4 00 kb exists on chromosome 14, Other studies of tumors with t(12;14) r earrangements similarly show breakpoints within a 475-kb multiple aber ration region on chromosome 12, Thus t(12;14) is an example of a trans location in which the breakpoints are located within a BCR on both chr omosome 12 and chromosome 14, justifying the identification of express ed sequences that are altered in these BCR regions, A total of four ex pressed sequences were identified in the BCR on chromosome 14, Two of these were novel cDNAs (D14S1460E and D14S1461E), The chromosome 14 cD NAs were expressed in multiple adult tissues. The identification of a large breakpoint cluster region on chromosome 14 suggests that translo cations in this region mediate their effects at a distance and also th at elements that predispose this region to recurrent chromosomal trans location may be widely distributed. (C) 1998 Academic Press.