Endometriosis is a complex disease, influenced by genetic factors. Genetic markers associated with endometriosis exist at chromosome 1p36.12 and lead to altered expression of the long intergenic non-coding RNA 339 (LINC00339), however, the role of LINC00339 in endometriosis pathophysiology remains unknown. The aim of this work was to characterize the expression patterns of LINC00339 mRNA in endometrium and endometriotic lesions in situ and to determine the functional role of LINC00339 in human endometrium. We employed RNA-sequencing (RNA-seq), quantitative RT-PCR and in situ hybridization to investigate the abundance of LINC00339 transcripts in endometrium and endometrial cell lines and to describe the pattern and localization of LINC00339 expression in endometrium and endometriotic lesions. LINC00339 mRNA expression was manipulated (overexpressed and silenced) in endometrial stromal cell lines and RNA-seq data from overexpression models were analysed using online bioinformatics platforms (STRING and Ingenuity Pathway Analysis) to determine functional processes. We demonstrated the expression of LINC00339 in endometriotic lesions for the first time; we found LINC00339 expression was restricted to the lesion foci and absent in surrounding non-lesion tissue. Furthermore, manipulation of LINC00339 expression in endometrial stromal cell lines significantly impacted the expression of genes involved in immune defence pathways. These studies identify a novel mechanism for LINC00339 activity in endometrium and endometriosis, paving the way for future work, which is essential for understanding the pathogenesis of endometriosis.

中文翻译：

---

阐明长基因间非编码 RNA 339 在人类子宫内膜和子宫内膜异位症中的作用

子宫内膜异位症是一种复杂的疾病，受遗传因素的影响。与子宫内膜异位症相关的遗传标记存在于染色体 1p36.12 并导致长基因间非编码 RNA 339 (LINC00339) 的表达改变，然而，LINC00339 在子宫内膜异位症病理生理学中的作用仍然未知。这项工作的目的是表征 LINC00339 mRNA 在子宫内膜和子宫内膜原位病变中的表达模式，并确定 LINC00339 在人类子宫内膜中的功能作用。我们采用 RNA 测序 (RNA-seq)、定量 RT-PCR 和原位杂交来研究 LINC00339 转录本在子宫内膜和子宫内膜细胞系中的丰度，并描述 LINC00339 在子宫内膜和子宫内膜异位病变中的表达模式和定位。在子宫内膜基质细胞系中操纵（过表达和沉默）LINC00339 mRNA 表达，并使用在线生物信息学平台（STRING 和 Ingenuity Pathway Analysis）分析来自过表达模型的 RNA-seq 数据以确定功能过程。我们首次证明了LINC00339在子宫内膜异位病变中的表达；我们发现 LINC00339 表达仅限于病变灶，在周围的非病变组织中不存在。此外，对子宫内膜基质细胞系中 LINC00339 表达的操纵显着影响了参与免疫防御途径的基因的表达。这些研究确定了 LINC00339 在子宫内膜和子宫内膜异位症中的活性的新机制，为未来的工作铺平了道路，这对于了解子宫内膜异位症的发病机制至关重要。