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简化了临床和功能相关的基因调节器的鉴定,用于下部泌尿器官发育

Meade Haller¹, Yan Yin¹, Gabe Haller²

¹Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110.

Proceedings of the National Academy of Sciences of the United States of America

|February 1, 2024

概括

这项研究绘制了雄激素受体 (AR) 在生殖器官中调节的通路,识别了WNT信号传递和133个转录因子 (TF),这些因子对下泌尿器 (LGU) 发育至关重要. Sall1被突出显示为一个关键的调节器.

科学领域:

发育生物学是发展生物学.
遗传学遗传学是一个
泌尿器科泌尿器科泌尿器科泌尿器科

背景情况:

下生泌尿道 (LGU) 的先天性异常很常见,并且受到社会污名.
调节性差异化的基因与LGU异常有关,但很难识别致病基因.
雄激素信号传递是LGU发育的关键调节器.

研究的目的:

在生殖器中绘制雄激素受体 (AR) 调节的通路.
为了确定参与LGU发展的转录因子 (TF).
寻找与LGU异常相关的临床相关基因.

主要方法:

在体内使用SpDamID技术,用p300联合激活剂绘制生殖器中的AR调节通路.
确定了AR调节的通路,包括无翼/集成 (WNT) 信号.
测试了252个TF的性二态表达,并与LGU患者的副本数变异交叉引用.

主要成果:

确定了WNT信号作为一个高度丰富的AR调节通路.
在LGU患者中发现252个具有复制变异的TF,其中54个TF显示过多的LGU表型.
功能选将列表精细化为133个TF,包括Sall1,其中31个是首要候选人.

结论:

AR信号传输,特别是通过WNT通路,对于LGU的发展至关重要.
确定了133个对LGU发展具有功能和临床相关性的TF.
萨尔1功能丧失对LGU发展产生了重大影响,突出显示了其作为关键监管机构的作用.

关键词:

这里是Sall1的这就是SpDamIDID.受体受体是受体的受体.生殖器的发育生殖器的发育

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