Abstract
We investigated subinterval 6E on the human Y chromosome, a region frequently deleted in infertile males. YAC yOX17, mapped within subinterval 6E by STS-PCR, was analyzed for the presence of new genes. TSPYq1, a member of the TSPY multi-copy gene family, was isolated and characterized from a yOX17 cosmid subclone. PCR and FISH analysis performed on normal subjects and on patients with microdeletions of Yq suggested the presence of multiple copies of TSPY in Yq.
Copyright 2000 S. Karger AG, Basel
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution / genetics
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Base Sequence
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Cell Cycle Proteins
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Chromosome Deletion
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Chromosomes, Artificial, Yeast / genetics
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Cloning, Molecular
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Cosmids / genetics
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DNA-Binding Proteins / genetics*
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Exons / genetics
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Gene Dosage
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Humans
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In Situ Hybridization, Fluorescence
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Infertility, Male / genetics
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Male
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Molecular Sequence Data
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Multigene Family / genetics*
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Nuclear Proteins*
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Physical Chromosome Mapping
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Polymerase Chain Reaction
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Sequence Alignment
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Sex-Determining Region Y Protein
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Spermatogenesis / genetics
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Transcription Factors*
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Y Chromosome / genetics*
Substances
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Cell Cycle Proteins
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DNA-Binding Proteins
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Nuclear Proteins
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Sex-Determining Region Y Protein
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TSPY1 protein, human
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Transcription Factors