Survival motor neuron protein participates in mouse germ cell development and spermatogonium maintenance

Wei Fang Chang, Jie Xu, Tzu Ying Lin, Jing Hsu, Hsiu Mei Hsieh-Li, Yuh Ming Hwu, Ji Long Liu, Chung Hao Lu*, Li Ying Sung


研究成果: 雜誌貢獻期刊論文同行評審

10 引文 斯高帕斯(Scopus)


The defective human survival motor neuron 1 (SMN1) gene leads to spinal muscular atrophy (SMA), the most common genetic cause of infant mortality. We previously reported that loss of SMN results in rapid differentiation of Drosophila germline stem cells and mouse embryonic stem cells (ESCs), indicating that SMN also plays important roles in germ cell development and stem cell biology. Here, we show that in healthy mice, SMN is highly expressed in the gonadal tissues, prepubertal spermatogonia, and adult spermatocytes, whereas low SMN expression is found in differentiated spermatid and sperm. In SMA-like mice, the growth of testis tissues is retarded, accompanied with gamete development abnormalities and loss of the spermatogonia-specific marker. Consistently, knockdown of Smn1 in spermatogonial stem cells (SSCs) leads to a compromised regeneration capacity in vitro and in vivo in transplantation experiments. In SMA-like mice, apoptosis and accumulation of the R-loop structure were significantly elevated, indicating that SMN plays a critical role in the survival of male germ cells. The present work demonstrates that SMN, in addition to its critical roles in neuronal development, participates in mouse germ cell and spermatogonium maintenance.

期刊International journal of molecular sciences
出版狀態已發佈 - 2020 2月 1

ASJC Scopus subject areas

  • 催化
  • 分子生物學
  • 光譜
  • 電腦科學應用
  • 物理與理論化學
  • 有機化學
  • 無機化學


深入研究「Survival motor neuron protein participates in mouse germ cell development and spermatogonium maintenance」主題。共同形成了獨特的指紋。