title: Identification of a rearrangement in the 5' upstream region of the poly(ADP-ribose) polymerase pseudogene on chromosome 13 in Ewing's sarcoma cells.
abstract: We have cloned a 3.0 kb SalI-Sau3AI fragment containing 5' upstream sequences of a human poly(ADP-ribose) polymerase (PARR) pseudogene from the Ewing's sarcoma (ES) cell line A4573. The nucleotide sequence of the entire cloned fragment has been determined. Nucleotide sequence homology and Southern hybridization analysis of a panel of human/hamster somatic cell hybrids allowed us to map the PARP 5' sequences to human chromosome 13. Because it has been reported that the duplication of a 193 bp within the PARP sequences on chromosome 13 results in a 2.7/2.5 kb HindIII restriction fragment length polymorphism (RFLP), defined as A/B allele polymorphism, and that an elevated B allele frequency has been proposed to be associated with predisposition to cancer, we have analyzed ES cell lines for the presence of PARR-linked polymorphisms on chromosome 13. Using a probe from the cloned 5' PARP sequences, we found that ES cells homozygous (A/A) and heterozygous (A/B) for the 2.7/2.5 kb HindIII RFLP also differ in the organization of the genomic region upstream of the PARP pseudogene sequences. HindIII fragments of about 6.3, 10.5 and 22.0 kb were detected in A/B heterozygous cell lines (A4573 and SK-ES-1), whereas the A/A homozygous TC-106 ES cells showed fragments of about 6.6, 11.0 and 24.0 kb. This novel rearrangement on chromosome 13 may provide an additional marker to investigate cancer predisposition in human populations.
authors: GEORGETOWN UNIV,MED CTR,DEPT RADIAT MED,WASHINGTON,DC 20007.
authors: V
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authors: Soldatenkov
authors: A
authors: A
authors: Dritschilo
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authors: Notario