PMID: 9450867Feb 5, 1998Paper

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity

American Journal of Medical Genetics
S H ElseaP I Patel

Abstract

Smith-Magenis syndrome (SMS) is caused by an interstitial deletion of chromosome band 17p11.2 averaging 4-5 Mb. This deletion is likely to contain a large number of genes, each of which could potentially contribute toward the clinical phenotype. We report that the gene for topoisomerase III (hTOP3) is commonly deleted in SMS patients and maps between D17S447 and D17S258 on the short arm of chromosome 17. Cellular studies of SMS patient lymphoblasts and their respective parental cell lines were undertaken to determine the consequences of haploinsufficiency of hTOP3. Our studies indicate that hemizygosity for hTOP3 does not appreciably affect cell-cycle kinetics or activation of ionizing radiation-sensitive cell-cycle checkpoints. Furthermore, the induction of apoptosis in response to ionizing radiation in SMS and parental cells was similar. Our studies suggest that haploinsufficiency of hTOP3 does not have a major impact on the behavior of cells from SMS patients and may not play a significant role in the SMS phenotype.

References

May 1, 1990·Genomics·E C WrightM H Skolnick
Sep 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·F DolbeareJ W Gray
Mar 28, 1995·Proceedings of the National Academy of Sciences of the United States of America·R A KimJ C Wang
Apr 16, 1996·Proceedings of the National Academy of Sciences of the United States of America·R HanaiJ C Wang
Mar 29, 1996·American Journal of Medical Genetics·F GreenbergJ R Lupski
Apr 29, 1997·Proceedings of the National Academy of Sciences of the United States of America·E FritzM S Meyn

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