title: A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene.
abstract: A novel transcript containing homology to exons 5, 9, 10, and 11 of the beta-glucuronidase gene has been shown to be derived from Chromosome (Chr) 5. In situ hybridization analysis has shown that this transcript is homologous to four loci on Chr 5 (5p13.3, 5p15.1, 5q13.1, and 5q15), two loci on Chr 6 (6p11.2 and 6p21.3), and one on Chr 22 at 22q11.2. Analysis of cosmid clones from Chr 5 has defined three distinct contigs in which there are tandem genomic repeats of a unit containing sequences homologous to exons 5, 9, and 10 but not 11. Pulsed-field gel electrophoresis (PFGE) analysis has shown that the length of these repeats is highly variable between unrelated individuals, indicating that these regions of Chr 5 are prone to rearrangement. These sequences may be important with respect to stability around the Chr 5 centromere.
authors.affiliation: University of Cambridge, Department of Pathology, England, UK.
authors.forename: C A
authors.initials: CA
authors.lastname: Sargent
authors.forename: I J
authors.initials: IJ
authors.lastname: Chalmers
authors.forename: M
authors.initials: M
authors.lastname: Leversha
authors.forename: N A
authors.initials: NA
authors.lastname: Affara
mesh_terms: D001483:Base Sequence; D002895:Chromosomes, Human, Pair 5; D003360:Cosmids / Q000235:genetics; D018076:DNA, Complementary; D016521:Electrophoresis, Gel, Pulsed-Field / Q000379:methods; D005091:Exons; D015870:Gene Expression; D015321:Gene Rearrangement; D005966:Glucuronidase / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011544:Pseudogenes; D012091:Repetitive Sequences, Nucleic Acid; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018076:DNA, Complementary; D005966:Glucuronidase