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Vol. 91, No. 1-4, 2000
Issue release date: 2000

TSPY variants in six loci on the human Y chromosome

Dechend F. · Williams G. · Skawran B. · Schubert S. · Krawczak M. · Tyler-Smith C. · Schmidtke J.
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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.   

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