Hepatocyte nuclear factor-1β (HNF-1β) is a DNA-binding transcription factor that is essential for normal kidney development. Mutations of HNF1B in humans produce cystic kidney diseases, including renal cysts and diabetes, multicystic dysplastic kidneys, glomerulocystic kidney disease, and autosomal dominant tubulointerstitial kidney disease. Expression of HNF1B is reduced in cystic kidneys from humans with ADPKD, and HNF1B has been identified as a modifier gene in PKD. Genome-wide analysis of chromatin binding has revealed that HNF-1β directly regulates the expression of known PKD genes, such as PKHD1 and PKD2, as well as genes involved in PKD pathogenesis, including cAMP-dependent signaling, renal fibrosis, and Wnt signaling. In addition, a role of HNF-1β in regulating the expression of noncoding RNAs (microRNAs and long noncoding RNAs) has been identified. These findings indicate that HNF-1β regulates a transcriptional and post-transcriptional network that plays a central role in renal cystogenesis.

中文翻译：

---

转录因子肝细胞核因子-1β在多囊肾病中的作用。

肝细胞核因子-1β (HNF-1β) 是一种 DNA 结合转录因子，对正常肾脏发育至关重要。人类 HNF1B 的突变会导致囊性肾病，包括肾囊肿和糖尿病、多囊发育不良肾、肾小球囊性肾病和常染色体显性肾小管间质性肾病。HNF1B 在患有 ADPKD 的人的囊性肾脏中的表达降低，并且 HNF1B 已被确定为 PKD 中的修饰基因。对染色质结合的全基因组分析表明，HNF-1β 直接调节已知 PKD 基因的表达，例如 PKHD1 和 PKD2，以及参与 PKD 发病机制的基因，包括 cAMP 依赖性信号传导、肾纤维化和 Wnt 信号传导。此外，已经确定了 HNF-1β 在调节非编码 RNA（microRNA 和长链非编码 RNA）表达中的作用。这些发现表明 HNF-1β 调节在肾囊肿形成中起核心作用的转录和转录后网络。