Separation of long-range human TERT gene haplotypes by transformation-associated recombination cloning in yeast

Oncogene. 2003 Apr 24;22(16):2452-6. doi: 10.1038/sj.onc.1206316.

Abstract

The hTERT gene encoding a catalytic subunit of human telomerase contains four blocks of variable number of tandem repeats (VNTRs)--two in intron 2 and two in intron 6. The segregation of hTERT VNTRs was analysed in families, revealing that all of them were transmitted through meiosis following a Mendelian inheritance. The work reports a further characterization of the minisatellites in hTERT. We employed transformation-associated recombination (TAR) cloning to isolate parental hTERT alleles and determined the specific combination of minisatellites at each of the polymorphic sites. A long-range haplotyping of hTERT determined by TAR cloning was verified by classical Mendelian analysis. Since such a strategy can be applied for any chromosomal locus, we conclude that recombinational gene capture could greatly facilitate haplotypes analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cloning, Molecular*
  • DNA-Binding Proteins
  • Female
  • Haplotypes*
  • Humans
  • Male
  • Minisatellite Repeats*
  • Polymorphism, Genetic
  • Telomerase / genetics*
  • Yeasts / genetics
  • Yeasts / metabolism

Substances

  • DNA-Binding Proteins
  • TERT protein, human
  • Telomerase