TSPY variants in six loci on the human Y chromosome

Cytogenet Cell Genet. 2000;91(1-4):67-71. doi: 10.1159/000056821.

Abstract

We have studied the structure, organization, and evolution of the human TSPY gene family by mapping three sequence variants identified through RT-PCR analysis onto genomic clones derived from two different YAC contigs. TSPY gene family members occur in at least six locations on the human Y chromosome, and each cluster contains a unique combination of variants. Our data further suggest that an 18-bp tandem duplication found in TSPY exon 1 originated from an unequal sister chromatid exchange between two tandemly arranged TSPY clusters.

MeSH terms

  • Cell Cycle Proteins
  • Chromosomes, Artificial, Yeast
  • Contig Mapping
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Evolution, Molecular
  • Exons / genetics
  • Gene Duplication
  • Genetic Variation / genetics*
  • Humans
  • Introns / genetics
  • Male
  • Multigene Family / genetics
  • Mutation / genetics*
  • Nuclear Proteins*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sex-Determining Region Y Protein
  • Sister Chromatid Exchange / genetics
  • Tandem Repeat Sequences / genetics
  • Testis
  • Transcription Factors*
  • Y Chromosome / genetics*

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Sex-Determining Region Y Protein
  • TSPY1 protein, human
  • Transcription Factors