Schnieders F, Dörk T, Arnemann J, Vogel T, Werner M, Schmidtke J
Institut für Humangenetik, Medizinische Hochschule Hannover, Germany.
Hum Mol Genet. 1996 Nov;5(11):1801-7. doi: 10.1093/hmg/5.11.1801.
TSPY, the 'testis-specific protein, Y-encoded', is the product of a tandem gene cluster on human proximal Yp. In order to gain insight into the function of this locus, we have analysed (I) the diversity of RNAs transcribed from the cluster, (II) the sequence homology of the deduced TSPY to other proteins, and (iii) its protein properties both in tissue extracts and in tissue sections, using a TSPY-specific antiserum. We have identified a set of distinct TSPY transcripts with diverse exon compositions. We show that TSPY has homology with other human and non-human proteins, including SET and NAP, factors that are suggested to play a role in DNA replication. Protein analysis revealed TSPY to occur mainly in a modified, putatively phosphorylated form. By immunostaining it was detected in distinct subsets of spermatogonia. TSPY was also strongly immunostained in early testicular carcinoma in situ (CIS), while seminomatous tumour cells stained less intensely. The spermatogonial cells of two XY-TFM-females gave a strong immune response. The data presented here point to a phosphorylation-dependent TSPY-function in early spermatogenesis, immediately prior to the spermatogonia-to-spermatocyte transition, and in early testicular tumorigenesis.
TSPY，即“睾丸特异性蛋白，Y编码”，是人类Y染色体短臂近端串联基因簇的产物。为了深入了解该基因座的功能，我们进行了以下分析：（I）分析该基因簇转录的RNA的多样性；（II）推导的TSPY与其他蛋白质的序列同源性；以及（iii）使用TSPY特异性抗血清分析其在组织提取物和组织切片中的蛋白质特性。我们鉴定出了一组具有不同外显子组成的独特TSPY转录本。我们发现TSPY与其他人类和非人类蛋白质具有同源性，包括SET和NAP，这些因子被认为在DNA复制中起作用。蛋白质分析显示TSPY主要以一种修饰的、推测为磷酸化的形式存在。通过免疫染色，在精原细胞的不同亚群中检测到了TSPY。在早期睾丸原位癌（CIS）中TSPY也有强烈的免疫染色，而精原细胞瘤细胞的染色强度较低。两名XY-TFM女性的精原细胞产生了强烈的免疫反应。此处呈现的数据表明，TSPY在精子发生早期、紧接精原细胞向精母细胞转变之前以及早期睾丸肿瘤发生过程中具有磷酸化依赖性功能。
