The X and Y chromosomes play important roles outside of human reproduction; namely, their potential contribution to human sex biases in physiology and disease. While sex biases are often thought to be an effect of hormones and environmental exposures, genes encoded on the sex chromosomes also play a role. Seventeen homologous gene pairs exist on the X and Y chromosomes whose proteins have critical functions in biology, from direct regulation of transcription and translation to intercellular signaling and formation of extracellular structures. In this review, we cover the current understanding of several of these sex chromosome-encoded protein homologs that are involved in transcription and chromatin regulation: SRY/SOX3, ZFX/ZFY, KDM5C/KDM5D, UTX/UTY, and TBL1X/TBL1Y. Their mechanisms of gene regulation are discussed, including any redundancies or divergent roles of the X- and Y-chromosome homologs. Additionally, we discuss associated diseases related to these proteins and any sex biases that exist therein in an effort to drive further research into how these pairs contribute to sexually dimorphic gene regulation in health and disease.

中文翻译：

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比较性染色体编码的蛋白质同源物在基因调控中的作用


X 和 Y 染色体在人类生殖之外发挥着重要作用；即它们对人类生理和疾病中性别偏见的潜在贡献。虽然性别偏见通常被认为是激素和环境暴露的影响，但性染色体上编码的基因也发挥了作用。 X 和 Y 染色体上存在 17 个同源基因对，其蛋白质在生物学中具有关键功能，从转录和翻译的直接调节到细胞间信号传导和细胞外结构的形成。在这篇综述中，我们介绍了目前对参与转录和染色质调控的几个性染色体编码蛋白同源物的理解：SRY/SOX3、ZFX/ZFY、KDM5C/KDM5D、UTX/UTY 和 TBL1X/TBL1Y。讨论了它们的基因调控机制，包括 X 和 Y 染色体同源物的任何冗余或不同作用。此外，我们讨论了与这些蛋白质相关的相关疾病以及其中存在的任何性别偏见，以努力推动进一步研究这些蛋白质对如何促进健康和疾病中的性别二态性基因调控。