Genomic instability of the DYZ1 repeat in patients with Y chromosome anomalies and males exposed to natural background radiation. |
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Authors: | Deepali Pathak Sanjay Premi Jyoti Srivastava Sebastian Padinjarel Chandy Sher Ali |
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Affiliation: | Molecular Genetics Laboratory, National Institute of Immunology Aruna Asaf Ali Marg, New Delhi 11 0067, India. |
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Abstract: | We assessed genomic instability of 3.4 kb DYZ1 repeat arrays in patients encompassing prostate cancer (PC), cases of repeated abortion (RA) and males exposed to natural background radiation (NBR) using real-time PCR and fluorescence in situ hybridization (FISH). Normal males showed DYZ1 copies ranging from 3000 to 4300, RA, 0-2237; PC, 550; and males exposed to NBR, 1577-5700. FISH showed organizational variation of DYZ1 in these samples substantiating the data obtained from real-time PCR. Of the 10 RA samples, 7 were found to be affected of which, 5 showed deletion of 265 bp from nt 25 to 290 and 773 bp from 1347 to 2119 and 2 showed deletion of 275 bp from nt 3128 to 3402. Copy number variation of DYZ1 in these males correlated with genetic constrains/anomalies. Although precise mechanisms of genomic instability of DYZ1 remains unclear, we construe that this repeat plays a critical role in maintaining the structural integrity of the Y chromosome, possibly by absorbing the load of mutations. This may be used as a marker system to analyze genetic integrity of the DYZ1 repeat array(s) across the spectrum of patients. |
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Keywords: | copy number variation DYZ1 repeat fraction Y chromosome dysfunction repeated abortion prostate cancer |
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