H subunit of V-ATPase (ATP6V1H) is specifically expressed in osteoclasts and its deficiency lead to osteoporosis. Our group previously found four intronic SNPs of ATP6V1H related to reduced bone mineral density, but the mechanisms was not clear. In this study, we found that the above four SNPs were located at lncRNA lnc-TCEA1-3 by using bioinformatics analysis. We further detected the function of lnc-TCEA1-3 on regulating ATP6V1H and osteoclast function using Atp6v1h knockout mice, lentivirus transfection and qPCR analysis. Over expression of lnc-TCEA1-3 up regulated the expression of ATP6V1H in HEK293 cells, HOS cells and primarily cultured osteoclasts, and increased the number of primarily cultured osteoclasts. In addition, over expression of lnc-TCEA1-3 exerted distinct effect on two transcripts of ATP6V1H in HEK293, HOS and osteoclasts. This study will facilitate the in-depth analysis of the effects of ATP6V1H on bone diseases, and discover new therapeutic strategies.

中文翻译：

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长非编码RNA lnc-TCEA1-3通过调节ATP6V1H影响破骨功能

V-ATP酶的H亚基（ATP6V1H）在破骨细胞中特异性表达，其缺乏会导致骨质疏松。我们课题组此前发现了ATP6V1H的4个内含子SNP与骨密度降低相关，但其机制尚不清楚。本研究通过生物信息学分析发现上述4个SNP位点位于lncRNA lnc-TCEA1-3上。我们进一步利用Atp6v1h敲除小鼠、慢病毒转染和qPCR分析检测了lnc-TCEA1-3对ATP6V1H和破骨细胞功能的调节功能。lnc-TCEA1-3的过表达上调HEK293细胞、HOS细胞和原代培养破骨细胞中ATP6V1H的表达，并增加原代培养破骨细胞的数量。此外，lnc-TCEA1-3的过表达对HEK293中ATP6V1H的两个转录本、HOS和破骨细胞产生明显影响。该研究将有助于深入分析ATP6V1H对骨疾病的影响，并发现新的治疗策略。