AMH and AMHR2 mutations: A spectrum of reproductive phenotypes across vertebrate species

Rachel D. Mullen, Alejandra E. Ontiveros, Malcolm M. Moses, Richard R. Behringer

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations

Abstract

Anti-Müllerian hormone (AMH) is a member of the Transforming Growth Factor-β family of secreted signaling proteins. AMH is expressed in Sertoli cells of the fetal and adult testes and granulosa cells of the postnatal ovary. AMH is required for the regression of the Müllerian ducts in mammalian fetuses during male differentiation. AMH signals through its Type II receptor, AMHR2. AMHR2 is expressed in mesenchyme adjacent to the Müllerian ducts, and in Sertoli, Leydig, and granulosa cells. Although AMH and AMHR2 genes have been identified in numerous vertebrate species, spontaneous or engineered mutations or variants have been found or created in only a few mammals and teleost fishes. AMH or AMHR2 mutations in mammals lead to the development of Persistent Müllerian Duct Syndrome (PMDS), a recessive condition in which affected males are fully virilized but retain Müllerian duct-derived tissues, including a uterus and oviducts, and in human and dog, undescended testes. Amh mutant female mice had accelerated ovarian primordial follicle recruitment, suggesting a role for AMH in regulating germ cells. amh and amhr2 mutations have also been experimentally generated in various teleost fishes. Depending on the fish species, loss of AMH signaling results in infertility, germ cell tumors, or male-to-female sex reversal. Here we compare the spectrum of phenotypes caused by AMH and AMHR2 mutations in a variety of vertebrate species. There are both common and unique phenotypes between species, highlighting the range of biological processes regulated by AMH signaling.

Original languageEnglish (US)
Pages (from-to)1-9
Number of pages9
JournalDevelopmental Biology
Volume455
Issue number1
DOIs
StatePublished - Nov 1 2019

Keywords

  • Fertility
  • Gametogenesis
  • Müllerian duct regression
  • Sex determination
  • Testicular descent

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology

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