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The expression of anti-Müllerian hormone, also called Müllerian-inhibiting substance or factor, is limited to immature Sertoli and post-natal granulosa cells. To gain information on the genetic mechanisms of this tissue- and development-specific regulation, a human genomic clone containing 3.6 kilobases of 5' flanking sequences has been isolated and sequenced. Transcription initiation sites include a major site, at the same position as in the bovine gene, and 3 minor sites, accounting together for 12% of transcripts. Sequences of potential interest include an Sp1 binding site, minisatellite-like regions, and a 13-base pair palindrome, nearly identical to the oestrogen response element of the vitellogenin genes. This palindrome binds to the human oestrogen receptor in vitro and activates transcription of a hybrid gene when several copies are inserted 5' of a thymidine kinase promoter. Further studies are needed to determine whether this palindrome is implicated in a feed-back loop regulating oestrogen synthesis in granulosa cells.
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Guerrier et al. (1990) studied this question.
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