Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY.
The human Y-specific gene TSPY (testis-specific protein Y-encoded) was originally defined by the genomic probe pJA36B2 (DYS14), which detects a poly(A)+ RNA transcript in human testis tissue. Using this probe we have now isolated the cDNA sequence pJA923 from a human testis cDNA library. Southern blot hybridization experiments with both probes yielded identical male-specific banding patterns, but sequence analysis revealed an overall homology of only 92.3%. It appears that pJA36B2 (DYS14) is a pseudogene to pJA923 (TSPY), as only pJA923-specific transcripts were discovered in testis mRNA. PCR analysis of genomic DNA from patients with specific primers confirmed the simultaneous presence of at least two independent loci on the proximal short arm of the Y chromosome.
Arnemann
J
J
National Institute for Medical Research, Laboratory of Eukaryotic Molecular Genetics, London, United Kingdom.
Jakubiczka
S
S
Thüring
S
S
Schmidtke
J
J
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D018797:Cell Cycle Proteins; D003001:Cloning, Molecular; D004247:DNA; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D010957:Plasmids; D016133:Polymerase Chain Reaction; D051876:Sex-Determining Region Y Protein; D013737:Testis / Q000378:metabolism*; D014157:Transcription Factors; D014158:Transcription, Genetic; D014998:Y Chromosome
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; C497749:TSPY1 protein, human; D014157:Transcription Factors; D004247:DNA