MKRN3 role in regulating pubertal onset: the state of art of functional studies
Puberty is a critical process characterized by several physical and psychological changes that culminate in the achievement of sexual maturation and fertility. The onset of puberty depends on several incompletely understood mechanisms that certainly involve gonadotropin-releasing hormone (GnRH) and...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.991322/full |
| _version_ | 1811261510218940416 |
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| author | Stefania Palumbo Grazia Cirillo Francesca Aiello Alfonso Papparella Emanuele Miraglia del Giudice Anna Grandone |
| author_facet | Stefania Palumbo Grazia Cirillo Francesca Aiello Alfonso Papparella Emanuele Miraglia del Giudice Anna Grandone |
| author_sort | Stefania Palumbo |
| collection | DOAJ |
| description | Puberty is a critical process characterized by several physical and psychological changes that culminate in the achievement of sexual maturation and fertility. The onset of puberty depends on several incompletely understood mechanisms that certainly involve gonadotropin-releasing hormone (GnRH) and its effects on the pituitary gland. The role of makorin ring finger protein 3 (MKRN3) in the regulation of pubertal timing was revealed when loss-of-function mutations were identified in patients with central precocious puberty (CPP), which to date, represent the most commonly known genetic cause of this condition. The MKRN3 gene showed ubiquitous expression in tissues from a broad spectrum of species, suggesting an important cellular role. Its involvement in the initiation of puberty and endocrine functions has just begun to be studied. This review discusses some of the recent approaches developed to predict MKRN3 functions and its involvement in pubertal development. |
| first_indexed | 2024-04-12T19:06:01Z |
| format | Article |
| id | doaj.art-8866771d138f45c794cd98d72f3826e9 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-04-12T19:06:01Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-8866771d138f45c794cd98d72f3826e92022-12-22T03:20:01ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-09-011310.3389/fendo.2022.991322991322MKRN3 role in regulating pubertal onset: the state of art of functional studiesStefania PalumboGrazia CirilloFrancesca AielloAlfonso PapparellaEmanuele Miraglia del GiudiceAnna GrandonePuberty is a critical process characterized by several physical and psychological changes that culminate in the achievement of sexual maturation and fertility. The onset of puberty depends on several incompletely understood mechanisms that certainly involve gonadotropin-releasing hormone (GnRH) and its effects on the pituitary gland. The role of makorin ring finger protein 3 (MKRN3) in the regulation of pubertal timing was revealed when loss-of-function mutations were identified in patients with central precocious puberty (CPP), which to date, represent the most commonly known genetic cause of this condition. The MKRN3 gene showed ubiquitous expression in tissues from a broad spectrum of species, suggesting an important cellular role. Its involvement in the initiation of puberty and endocrine functions has just begun to be studied. This review discusses some of the recent approaches developed to predict MKRN3 functions and its involvement in pubertal development.https://www.frontiersin.org/articles/10.3389/fendo.2022.991322/fullMKRN3central precocious pubertyfunctional studiesE3 ubiquitin ligaseepigeneticauto-ubiquitination |
| spellingShingle | Stefania Palumbo Grazia Cirillo Francesca Aiello Alfonso Papparella Emanuele Miraglia del Giudice Anna Grandone MKRN3 role in regulating pubertal onset: the state of art of functional studies Frontiers in Endocrinology MKRN3 central precocious puberty functional studies E3 ubiquitin ligase epigenetic auto-ubiquitination |
| title | MKRN3 role in regulating pubertal onset: the state of art of functional studies |
| title_full | MKRN3 role in regulating pubertal onset: the state of art of functional studies |
| title_fullStr | MKRN3 role in regulating pubertal onset: the state of art of functional studies |
| title_full_unstemmed | MKRN3 role in regulating pubertal onset: the state of art of functional studies |
| title_short | MKRN3 role in regulating pubertal onset: the state of art of functional studies |
| title_sort | mkrn3 role in regulating pubertal onset the state of art of functional studies |
| topic | MKRN3 central precocious puberty functional studies E3 ubiquitin ligase epigenetic auto-ubiquitination |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.991322/full |
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