CBX2 in DSD: The Quirky Kid on the Block

IF 2.4 4区医学 Q2 DEVELOPMENTAL BIOLOGY

Sexual Development Pub Date : 2022-03-09 DOI:10.1159/000522164

D. Hart, D. Rodríguez Gutiérrez, A. Biason-Lauber

引用次数: 1

Abstract

Sex development is an intricate and crucial process in all vertebrates that ensures the continued propagation of genetic diversity within a species, and ultimately their survival. Perturbations in this process can manifest as disorders/differences of sex development (DSD). Various transcriptional networks have been linked to development of the gonad into either male or female, which is actively driven by a set of genes that function in a juxtaposed manner and is maintained through the developmental stages to preserve the final sexual identity. One such identified gene is Chromobox homolog 2 (CBX2), an important ortholog of the Polycomb group (PcG) proteins, that functions as both chromatin modifier and highly dynamic transactivator. CBX2 was shown to be an essential factor for gonadal development in mammals, as genetic variants or loss-of-function of CBX2 can cause sex reversal in mice and humans. Here we will provide an overview of CBX2, its biological functions at molecular level, and the CBX2-dependent transcriptional landscape in gonadal development and DSD.

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DSD中的CBX2：块上的古怪孩子

在所有脊椎动物中，性发育是一个复杂而关键的过程，它确保了一个物种内遗传多样性的持续传播，并最终确保了它们的生存。这一过程中的扰动可以表现为性发育障碍/差异(DSD)。各种转录网络与性腺发育成男性或女性有关，这是由一组基因积极驱动的，这些基因以并列的方式发挥作用，并在发育阶段保持最终的性别身份。其中一个已确定的基因是Chromobox homolog 2 (CBX2)，它是Polycomb group (PcG)蛋白的重要同源基因，既可以作为染色质修饰因子，也可以作为高度动态的转录激活因子。CBX2被证明是哺乳动物性腺发育的重要因素，因为CBX2的遗传变异或功能丧失可以导致小鼠和人类的性别逆转。在这里，我们将提供CBX2的概述，其在分子水平上的生物学功能，以及CBX2在性腺发育和DSD中的依赖转录景观。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Sexual Development 生物-发育生物学

CiteScore

4.00

自引率

4.30%

发文量

审稿时长

>12 weeks

期刊介绍： Recent discoveries in experimental and clinical research have led to impressive advances in our knowledge of the genetic and environmental mechanisms governing sex determination and differentiation, their evolution as well as the mutations or endocrine and metabolic abnormalities that interfere with normal gonadal development. ‘Sexual Development’ provides a unique forum for this rapidly expanding field. Its broad scope covers all aspects of genetics, molecular biology, embryology, endocrinology, evolution and pathology of sex determination and differentiation in humans and animals. It publishes high-quality original research manuscripts, review articles, short reports, case reports and commentaries. An internationally renowned and multidisciplinary editorial team of three chief editors, ten prominent scientists serving as section editors, and a distinguished panel of editorial board members ensures fast and author-friendly editorial processing and peer reviewing.