A Rearrangement on Chromosome 5 of an Expressed Human Beta-Glucuronidase Pseudogene

Mamm Genome. 1994 Dec;5(12):791-6. doi: 10.1007/BF00292015.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 5*
  • Cosmids / genetics
  • DNA, Complementary
  • Electrophoresis, Gel, Pulsed-Field / methods
  • Exons
  • Gene Expression
  • Gene Rearrangement*
  • Glucuronidase / genetics*
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Pseudogenes*
  • Repetitive Sequences, Nucleic Acid
  • Sequence Homology, Nucleic Acid

Substances

  • DNA, Complementary
  • Glucuronidase

Associated data

  • GENBANK/X75940