Division of Cell and Developmental Genetics, Department of Medicine, VA Medical Center and Institute for Human Genetics, University of California, San Francisco, CA 94121, USA.
Asian J Androl. 2019 May-Jun;21(3):260-269. doi: 10.4103/aja.aja_43_18.
The Y-located testis-specific protein Y-encoded (TSPY) and its X-homologue TSPX originated from the same ancestral gene, but act as a proto-oncogene and a tumor suppressor gene, respectively. TSPY has specialized in male-specific functions, while TSPX has assumed the functions of the ancestral gene. Both TSPY and TSPX harbor a conserved SET/NAP domain, but are divergent at flanking structures. Specifically, TSPX contains a C-terminal acidic domain, absent in TSPY. They possess contrasting properties, in which TSPY and TSPX, respectively, accelerate and arrest cell proliferation, stimulate and inhibit cyclin B-CDK1 phosphorylation activities, have no effect and promote proteosomal degradation of the viral HBx oncoprotein, and exacerbate and repress androgen receptor (AR) and constitutively active AR variant, such as AR-V7, gene transactivation. The inhibitory domain has been mapped to the carboxyl acidic domain in TSPX, truncation of which results in an abbreviated TSPX exerting positive actions as TSPY. Transposition of the acidic domain to the C-terminus of TSPY results in an inhibitory protein as intact TSPX. Hence, genomic mutations/aberrant splicing events could generate TSPX proteins with truncated acidic domain and oncogenic properties as those for TSPY. Further, TSPY is upregulated by AR and AR-V7 in ligand-dependent and ligand-independent manners, respectively, suggesting the existence of a positive feedback loop between a Y-located proto-oncogene and male sex hormone/receptors, thereby amplifying the respective male oncogenic actions in human cancers and diseases. TSPX counteracts such positive feedback loop. Hence, TSPY and TSPX are homologues on the sex chromosomes that function at the two extremes of the human oncogenic spectrum.
Y 染色体定位的睾丸特异性蛋白 Y 编码(TSPY)及其 X 同源物 TSPX 起源于同一个祖先基因,但分别作为原癌基因和肿瘤抑制基因发挥作用。TSPY 专门从事男性特有的功能,而 TSPX 则承担了祖先基因的功能。TSPY 和 TSPX 都具有保守的 SET/NAP 结构域,但侧翼结构存在差异。具体来说,TSPX 含有一个 C 端酸性结构域,而 TSPY 则没有。它们具有相反的特性,TSPY 和 TSPX 分别加速和抑制细胞增殖,刺激和抑制细胞周期蛋白 B-CDK1 磷酸化活性,对病毒 HBx 癌蛋白没有影响,但促进其蛋白酶体降解,以及加剧和抑制雄激素受体(AR)和组成性激活的 AR 变体,如 AR-V7,基因转录激活。抑制结构域已被映射到 TSPX 的羧基酸性结构域,该结构域的截断导致截短的 TSPX 发挥类似于 TSPY 的阳性作用。将酸性结构域转移到 TSPY 的 C 末端会导致完整 TSPX 产生抑制性蛋白。因此,基因组突变/异常剪接事件可能会产生具有截断酸性结构域和致癌特性的 TSPX 蛋白,类似于 TSPY。此外,AR 和 AR-V7 分别以配体依赖和非依赖的方式上调 TSPY,这表明 Y 染色体定位的原癌基因和雄性激素/受体之间存在正反馈回路,从而在人类癌症和疾病中放大各自的男性致癌作用。TSPX 则对抗这种正反馈回路。因此,TSPY 和 TSPX 是性染色体上的同源物,它们在人类致癌谱的两个极端发挥作用。