XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a

Yi Xi Sun, Yi Xin Zhang, Dan Zhang, Chen Ming Xu, Song Chang Chen, Jun Yu Zhang, Yechun Ruan, Feng Chen, Run Ju Zhang, Ye Qing Qian, Yi Feng Liu, Lu Yang Jin, Tian Tian Yu, Hai Yan Xu, Yu Qin Luo, Xin Mei Liu, Fei Sun, Jian Zhong Sheng, He Feng Huang

Research output: Journal article publicationJournal articleAcademic researchpeer-review

15 Citations (Scopus)


� 2016, Springer-Verlag Berlin Heidelberg. Mechanisms underlying female gonadal dysgenesis remain unclarified and relatively unstudied. Whether X-chromosome inactivation (XCI)-escaping genes and microRNAs (miRNAs) contribute to this condition is currently unknown. We compared 45,X Turner Syndrome women with 46,XX normal women, and investigated differentially expressed miRNAs in Turner Syndrome through plasma miRNA sequencing. We found that miR-320a was consistently upregulated not only in 45,X plasma and peripheral blood mononuclear cells (PBMCs), but also in 45,X fetal gonadal tissues. The levels of miR-320a in PBMCs from 45,X, 46,XX, 46,XY, and 47,XXY human subjects were inversely related to the expression levels of XCI-escaping gene KDM5C in PBMCs. In vitro models indicated that KDM5C suppressed miR-320a transcription by directly binding to the promoter of miR-320a to prevent histone methylation. In addition, we demonstrated that KITLG, an essential gene for ovarian development and primordial germ cell survival, was a direct target of miR-320a and that it was downregulated in 45,X fetal gonadal tissues. In conclusion, we demonstrated that downregulation of miR-320a by the XCI-escaping gene KDM5C contributed to ovarian development by targeting KITLG.
Original languageEnglish
Pages (from-to)227-239
Number of pages13
JournalHuman Genetics
Issue number2
Publication statusPublished - 1 Feb 2017
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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