Epigenetic Regulation of Mouse Sex Determination by the Histone Demethylase Jmjd1a

Developmental gene expression is defined through cross-talk between the function of transcription factors and epigenetic status, including histone modification. Although several transcription factors play crucial roles in mammalian sex determination, how epigenetic regulation contributes to this process remains unknown. We observed male-to-female sex reversal in mice lacking the H3K9 demethylase Jmjd1a and found that Jmjd1a regulates expression of the mammalian Y chromosome sex-determining gene Sry. Jmjd1a directly and positively controls Sry expression by regulating H3K9me2 marks. These studies reveal a pivotal role of histone demethylation in mammalian sex determination.
ほ乳類の性決定遺伝子Sryの発現制御メカニズムの解明に成功 : 人間の性分化疾患の原因解明に期待. 京都大学プレスリリース. 2013-09-06.