title: TSPY variants in six loci on the human Y chromosome.
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.
authors.affiliation: Institut für Humangenetik, Medizinische Hochschule, Hannover, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Dechend
authors.forename: G
authors.initials: G
authors.lastname: Williams
authors.forename: B
authors.initials: B
authors.lastname: Skawran
authors.forename: S
authors.initials: S
authors.lastname: Schubert
authors.forename: M
authors.initials: M
authors.lastname: Krawczak
authors.forename: C
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
mesh_terms: D018797:Cell Cycle Proteins; D018244:Chromosomes, Artificial, Yeast; D020451:Contig Mapping; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D019143:Evolution, Molecular; D005091:Exons / Q000235:genetics; D020440:Gene Duplication; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D005810:Multigene Family / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins; D020133:Reverse Transcriptase Polymerase Chain Reaction; D051876:Sex-Determining Region Y Protein; D012854:Sister Chromatid Exchange / Q000235:genetics; D020080:Tandem Repeat Sequences / Q000235:genetics; D013737:Testis; D014157:Transcription Factors; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; C497749:TSPY1 protein, human; D014157:Transcription Factors