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HPMR

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Activin A Receptor, Type II OKDB#: 974
 Symbols: ACVR2 Species: human
 Synonyms:  Locus:
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Although activins were discovered by virtue of their capacity to stimulate the production of follicle-stimulating hormone by the pituitary gland and inhibins were initially characterized as FSH inhibitors, activins and inhibins are dimeric proteins that share a common subunit. There are 3 activins (A, B, and A-B), comprising different combinations of 2 closely related beta subunits (beta-A/beta-A; beta-B/beta-B; and beta-A/beta-B, respectively) and 2 inhibins (A and B), consisting of 1 beta-subunit and an inhibin-specific alpha subunit (alpha/beta-A and alpha/beta-B). Activins impinge on a much broader spectrum of cells than do inhibins; however, in those systems in which both proteins are functional, they have opposing biologic effects. Activins are members of a family of polypeptide growth factors that includes also the transforming growth factors-beta, mullerian duct-inhibiting substance, and several bone morphogenetic proteins. Mathews and Vale (1991) cloned an activin receptor cDNA by use of a method that has been used to clone other receptors, such as that for erythropoietin. The cloning was based on the ability of the receptor to bind a labeled ligand following expression of a cDNA library in mammalian cells. The cDNA coded for a protein of 494 amino acids comprising a ligand-binding extracellular domain, a single membrane-spanning domain, and an intracellular kinase domain with predicted serine/threonine specificity. On the basis of affinity-crosslinking studies, They identified 2 types of activin receptors. The type I receptor has a molecular size of 65 kD, while the molecular size of the type II receptor is 85 kD.

General function Receptor
Comment
Cellular localization Plasma membrane
Comment
Ovarian function Follicle endowment, Follicle development, Antral follicle growth, Germ cell development
Comment Eramaa M, et al 1995 reported the expression of activin receptor mRNAs in cultured human granulosa-luteal cells. Northern blot analysis indicated that cultured human GL cells as well as freshly isolated preovulatory granulosa cells express the specific mRNAs for all currently known serine/threonine kinase activin receptors, i.e. activin receptors I, IB, II, and IIB. Richards AJ, et al 1999 reported that activin and TGFbeta limit murine primordial germ cell proliferation. Mammalian primordial germ cells (PGCs) proliferate as they migrate from their initial location in the extraembryonic mesoderm to the genital ridge, the gonadal anlage. Once in the genital ridge, PGCs cease dividing and differentiate according to their gender. Growth factor receptors encoded in RNA obtained from purified germ cells were analyzed shortly after their arrival in the genital ridge. Receptors for two members of the TGFbeta superfamily were found, TGFbeta1 and activin. As the signal-transducing domains of both receptor systems are highly conserved, the effects of both TGFbeta1 and activin on PGCs would be expected to be similar. It was found that both ligands limited the accumulation of germ cells in primary PGC cultures. BrdU incorporation assays demonstrated that either ligand inhibits PGC proliferation. These results suggest that these signal transduction pathways are important elements of the mechanism that determines germ cell endowment. Otkay et al 2000 reported the interaction of Extracellular Matrix and Activin-A in the Initiation of Follicle Growth in the Mouse Ovary. Ovaries were collected from 5-day-old mice and cultured for 10 days on polylysine, collagen, or laminin in the presence or absence of recombinant human activin-A. Follicle density, indices of follicle growth initiation (primary:primordial follicle [PY:PD] and primary:total follicle [PY:TF] ratios), ratios of multilayer follicle:total follicle (ML:TF), and follicle growth rates were compared between groups. Activin-A stimulated multilayer follicle development in the presence of laminin (ML:TF ratio), whereas it suppressed follicle growth in collagen. Activin-A did not affect the ML:TF ratio in the polylysine-treated groups. These results suggest that extracellular matrix components and activin-A interact with each other, and that they regulate follicle growth initiation and multilayer follicle development.
Expression regulated by
Comment
Ovarian localization Primordial Germ Cell, Granulosa, Luteal cells
Comment da Silva SJ, et al reported the expression of activin subunits and receptors in the developing human ovary: activin A promotes germ cell survival and proliferation before primordial follicle formation. The formation of the essential functional unit of the ovary, the primordial follicle, occurs during fetal life in humans. Factors regulating oogonial proliferation and interaction with somatic cells before primordial follicle formation are largely unknown. We have investigated the expression, localisation and functional effects of activin and its receptors in the human fetal ovary at 14-21 weeks gestation. Expression of mRNA for the activin betaA and betaB subunits and the activin receptors ActRIIA and ActRIIB was demonstrated by RT-PCR. Expression of betaA mRNA increased 2-fold across the gestational range examined. Activin subunits and receptors were localised by immunohistochemistry. The betaA subunit was expressed by oogonia, and the betaB subunit and activin receptors were expressed by both oogonia and somatic cells. betaA expression was increased in larger oogonia at later gestations, but was low in oocytes within newly formed primordial follicles. Treatment of ovary fragments with activin A in vitro increased both the number of oogonia present and oogonial proliferation, as detected by bromodeoxyuridine (BrdU) incorporation. These data indicate that activin may be involved in the autocrine and paracrine regulation of germ cell proliferation in the human ovary during the crucial period of development leading up to primordial follicle formation.
Follicle stages Antral, Preovulatory, Corpus luteum
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 22, 2000, midnight by: hsueh   email:
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last update: July 2, 2004, 3:36 p.m. by: hsueh    email:



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