title: Simple quantitative PCR approach to reveal naturally occurring and mutation-induced repetitive sequence variation on the Drosophila Y chromosome.
abstract: Heterochromatin is a significant component of the human genome and the genomes of most model organisms. Although heterochromatin is thought to be largely non-coding, it is clear that it plays an important role in chromosome structure and gene regulation. Despite a growing awareness of its functional significance, the repetitive sequences underlying some heterochromatin remain relatively uncharacterized. We have developed a real-time quantitative PCR-based method for quantifying simple repetitive satellite sequences and have used this technique to characterize the heterochromatic Y chromosome of Drosophila melanogaster. In this report, we validate the approach, identify previously unknown satellite sequence copy number polymorphisms in Y chromosomes from different geographic sources, and show that a defect in heterochromatin formation can induce similar copy number polymorphisms in a laboratory strain. These findings provide a simple method to investigate the dynamic nature of repetitive sequences and characterize conditions which might give rise to long-lasting alterations in DNA sequence.
authors.affiliation: Department of Biology, Texas A&M University, College Station, Texas, United States of America.
authors.forename: John C
authors.initials: JC
authors.lastname: Aldrich
authors.affiliation: Department of Biology, Texas A&M University, College Station, Texas, United States of America.
authors.forename: Keith A
authors.initials: KA
authors.lastname: Maggert
mesh_terms: D000818:Animals; D001483:Base Sequence; D004331:Drosophila melanogaster / Q000235:genetics*; D018628:Gene Dosage / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D060888:Real-Time Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D013045:Species Specificity; D014998:Y Chromosome / Q000235:genetics*