Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution

Nat Genet. 1995 Apr;9(4):386-94. doi: 10.1038/ng0495-386.

Abstract

Imprinting marks the parental origin of chromosomes, resulting in allele-specific changes in chromatin organization, transcription and replication. We report a 50-60 kb domain of allele-specific replication between the gamma-aminobutyric acid receptor subunit beta 3 (GABRB3) and alpha 5 (GABRA5) genes. Replication of this domain occurs in early S phase on the maternal chromosome 15 but is delayed until the end of S phase on the paternal homologue. In contrast, the genomic regions flanking this domain exhibit paternal earlier replication in mid to late S phase. Uniparental disomy or hemizygous deletion of chromosome 15 results in altered allele-specific replication kinetics compared with normals, suggesting that allele-specific replication within the GABRB3/A5 region may be regulated by reciprocal imprints on the maternal and paternal chromosomes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • DNA Replication / genetics
  • Female
  • Genomic Imprinting
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kinetics
  • Male
  • Multigene Family*
  • Receptors, GABA-A / genetics*
  • S Phase / genetics

Substances

  • Receptors, GABA-A