title: Genomic instability of the DYZ1 repeat in patients with Y chromosome anomalies and males exposed to natural background radiation.
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.
authors.affiliation: Molecular Genetics Laboratory, National Institute of Immunology Aruna Asaf Ali Marg, New Delhi 11 0067, India.
authors.forename: Deepali
authors.initials: D
authors.lastname: Pathak
authors.forename: Sanjay
authors.initials: S
authors.lastname: Premi
authors.forename: Jyoti
authors.initials: J
authors.lastname: Srivastava
authors.forename: Sebastian Padinjarel
authors.initials: SP
authors.lastname: Chandy
authors.forename: Sher
authors.initials: S
authors.lastname: Ali
mesh_terms: D000028:Abortion, Induced; D001417:Background Radiation; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D005260:Female; D018628:Gene Dosage; D042822:Genomic Instability; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D016133:Polymerase Chain Reaction; D011471:Prostatic Neoplasms / Q000175:diagnosis / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid