Cytological evidence of defective template in the fragile X chromosome |
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| Authors: | B. Kerem R. Goitein T. Schaap |
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| Affiliation: | (1) Department of Human Genetics, Hadassah-Hebrew University, Medical Center, 91120 Jerusalem, Israel;(2) Department of Genetics, The Hebrew University, 91904 Jerusalem, Israel;(3) Present address: Department of Genetics, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada |
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| Abstract: | In cells of fragile X patients, the changed X segment may appear as a poorly staining region or a gap, or as a deletion, involving one or both chromatids. To find out whether the fragile site represents ah incompletely replicated DNA sequence, as has been suggested recently, we analyzed the four chromatids of methotrexate-induced endoreduplicated fragile X chromosomes. Our main observations were: (1) a deleted chromatid was never internal to a poorly staining one; (2) an endoreduplicated X chromosome with a fragile site never included a normal chromatid. These results can be explained by assuming that DNA at the fragile site, when replicated in the presence of methotrexate, may undergo defective replication and give rise to improperly packaged chromatin, appearing as a chromatid with a poorly staining region or a gap in the following metaphase. The same DNA may fail to function as a template in the following S-phase and give rise to a chromatid with a single-stranded segment, appearing as a deleted chromatid in the following metaphase.Dedicated to the memory of Professor Menashe Marcus, teacher, colleague, arid friend |
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