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Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions.
Semin Reprod Med 2019; 37(4):166-173SR

Abstract

Puberty is a critical period of development regulated by genetic, nutritional, and environmental factors. 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). To date, MKRN3 mutations are the most common known genetic cause of CPP. MKRN3 is a member of the makorin family of ubiquitin ligases, together with MKRN1 and MKRN2. The Mkrn genes have been identified in both vertebrates and invertebrates and show high evolutionary conservation of their gene and protein structures. While the existence of Mkrn orthologues in a wide spectrum of species suggests a vital cellular role of the makorins, their role in puberty initiation and endocrine functions is just beginning to be investigated. In this review, we discuss recent studies that have shown the involvement of Mkrn3 and other makorins in the regulation of pubertal development and other endocrine functions, including metabolism and fertility, as well as their underlying mechanisms of action.

Authors+Show Affiliations

Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31972861

Citation

Naulé, Lydie, and Ursula B. Kaiser. "Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions." Seminars in Reproductive Medicine, vol. 37, no. 4, 2019, pp. 166-173.
Naulé L, Kaiser UB. Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions. Semin Reprod Med. 2019;37(4):166-173.
Naulé, L., & Kaiser, U. B. (2019). Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions. Seminars in Reproductive Medicine, 37(4), pp. 166-173. doi:10.1055/s-0039-3400965.
Naulé L, Kaiser UB. Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions. Semin Reprod Med. 2019;37(4):166-173. PubMed PMID: 31972861.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions. AU - Naulé,Lydie, AU - Kaiser,Ursula B, Y1 - 2020/01/23/ PY - 2020/1/24/entrez PY - 2020/1/24/pubmed PY - 2020/1/24/medline SP - 166 EP - 173 JF - Seminars in reproductive medicine JO - Semin. Reprod. Med. VL - 37 IS - 4 N2 - Puberty is a critical period of development regulated by genetic, nutritional, and environmental factors. 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). To date, MKRN3 mutations are the most common known genetic cause of CPP. MKRN3 is a member of the makorin family of ubiquitin ligases, together with MKRN1 and MKRN2. The Mkrn genes have been identified in both vertebrates and invertebrates and show high evolutionary conservation of their gene and protein structures. While the existence of Mkrn orthologues in a wide spectrum of species suggests a vital cellular role of the makorins, their role in puberty initiation and endocrine functions is just beginning to be investigated. In this review, we discuss recent studies that have shown the involvement of Mkrn3 and other makorins in the regulation of pubertal development and other endocrine functions, including metabolism and fertility, as well as their underlying mechanisms of action. SN - 1526-4564 UR - https://www.unboundmedicine.com/medline/citation/31972861/Evolutionary_Conservation_of_MKRN3_and_Other_Makorins_and_Their_Roles_in_Puberty_Initiation_and_Endocrine_Functions L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0039-3400965 DB - PRIME DP - Unbound Medicine ER -