Cited by 132Hypothalamic control of reproductive hormonesGenetic Syndromes and ImprintingGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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A new pathway in the control of the initiation of puberty: the MKRN3 gene

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Abreu, Ana Paula, Macedo, Delanie B, Brito, Vinicius N, Kaiser, Ursula B, Latronico, Ana Claudia·2015·Journal of Molecular Endocrinology

DOI 10.1530/jme-14-0315PMC PMC4573396

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Abstract

Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The role of MKRN3, an imprinted gene located in the Prader-Willi syndrome critical region (chromosome 15q11-13), in pubertal initiation was first described in 2013 after the identification of deleterious MKRN3 mutations in five families with central precocious puberty (CPP) using whole-exome sequencing analysis. Since then, additional loss-of-function mutations of MKRN3 have been associated with the inherited premature sexual development phenotype in girls and boys from different ethnic groups. In all of these families, segregation analysis clearly demonstrated autosomal dominant inheritance with complete penetrance, but with exclusive paternal transmission, consistent with the monoallelic expression of MKRN3 (a maternally imprinted gene). Interestingly, the hypothalamic Mkrn3 mRNA expression pattern in mice correlated with a putative inhibitory input on puberty initiation. Indeed, the initiation of puberty depends on a decrease in factors that inhibit the release of GnRH combined with an increase in stimulatory factors. These recent human and animal findings suggest that MKRN3 plays an inhibitory role in the reproductive axis to represent a new pathway in pubertal regulation.

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Authors: Abreu, A. P., Macedo, D. B., Brito, V. N., Kaiser, U. B., & Latronico, A. C.
Affiliations: Brigham and Women's Hospital (US)
ORCID: Abreu, Ana Paula
Macedo, Delanie B
Kaiser, Ursula B
Venue: Journal of Molecular Endocrinology
Publisher: Bioscientifica
Published: 2015-06
Volume: 54
Issue: 3
Pages: R131-R139
ISSN: 0952-5041 (ISSN-L)
1479-6813
DOI: 10.1530/jme-14-0315
PMC: PMC4573396
OpenAlex: W1926000511
Cited by: 126
References: 47
Citations by year: 2026: 4 · 2025: 8 · 2024: 8 · 2023: 14 · 2022: 12 · 2021: 10 · 2020: 14 · 2019: 15 · 2018: 13 · 2017: 10 · 2016: 13 · 2015: 5
FWCI: 2.07
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Journal of Molecular Endocrinology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: Fundação de Amparo à Pesquisa do Estado de São Paulo
National Institutes of Health
Eunice Kennedy Shriver National Institute of Child Health and Human Development (F05HD072773, R01HD019938, U54HD28138, U54HD028138, R37HD019938, R01HD082314)
Topics: Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Keywords: MKRN3, pubertal timing, central precocious puberty, genomic imprinting, monoallelic expression, GnRH release, autosomal dominant inheritance, loss-of-function mutations, premature sexual development
MeSH terms: Amino Acid Sequence, Animals, Humans, Hypothalamus, Molecular Sequence Data, Phenotype, Prader-Willi Syndrome, Puberty, Puberty, Precocious, Ribonucleoproteins, Signal Transduction, Gene Expression, Age of Onset, Ubiquitin-Protein Ligases, Genetic Association Studies

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A new pathway in the control of the initiation of puberty: the MKRN3 gene

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