Genetics of anti-Müllerian hormone and its signaling pathway.

Anti-Müllerian hormone (AMH) is a member of the TGF-β family produced essentially by the supporting somatic cells of the testis. Initially known for its inhibiting role upon the development of female internal organs, AMH has been shown to exert many other effects namely upon germ cells. Circulating AMH reflects the ovarian reserve of young developing follicles and is used to evaluate the fertility potential in assisted reproduction. The signaling pathway of AMH is both similar and different from that of other members of the TGF-β family. Like these, it signals through two distinct serine/threonine receptors, type 1 and type 2, that phosphorylate cytoplasmic effectors, the Smads. It also shares type 1 receptors and Smads with other members of the family. However, AMH is the only family member with its own, dedicated, ligand-specific type 2 receptor, AMHR2. The monogamic relationship between AMH and AMHR2 is supported by molecular studies of the Persistent Müllerian Duct Syndrome, characterized by the presence of Müllerian derivatives in otherwise normally virilized males: mutations of AMH or AMHR2 are clinically indistinguishable.

• Publication year

  2022

• Venue

  Best practice & research. Clinical endocrinology & metabolism

• Publication date

  2022-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.beem.2022.101634PMID 35249805
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2020cited by this paper
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  2020cited by this paper
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  2019cited by this paper
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  2019cited by this paper
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  2018cited by this paper
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  2017cited by this paper
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  2015cited by this paper
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  2015cited by this paper
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  2012cited by this paper
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  2011cited by this paper
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  2010cited by this paper
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  2008cited by this paper
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  2008cited by this paper
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  2007cited by this paper
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  2003cited by this paper
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  2002cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1996cited by this paper
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  1996cited by this paper
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  1996cited by this paper
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  1995cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1988cited by this paper
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  1987cited by this paper
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