Arnemann J, Jakubiczka S, Thüring S, Schmidtke J
National Institute for Medical Research, Laboratory of Eukaryotic Molecular Genetics, London, United Kingdom.
Genomics. 1991 Sep;11(1):108-14. doi: 10.1016/0888-7543(91)90107-p.
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.
人类Y染色体特异基因TSPY（睾丸特异蛋白Y编码）最初是由基因组探针pJA36B2（DYS14）定义的，该探针可检测人类睾丸组织中的多聚腺苷酸（poly(A)+）RNA转录本。利用该探针，我们现已从人类睾丸cDNA文库中分离出cDNA序列pJA923。用这两种探针进行的Southern印迹杂交实验产生了相同的男性特异性条带模式，但序列分析显示总体同源性仅为92.3%。似乎pJA36B2（DYS14）是pJA923（TSPY）的假基因，因为在睾丸mRNA中仅发现了pJA923特异性转录本。用特异性引物对患者基因组DNA进行PCR分析证实，Y染色体短臂近端至少同时存在两个独立的基因座。
