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DLK1, Notch Signaling and the Timing of Puberty.
Semin Reprod Med 2019; 37(4):174-181SR

Abstract

The factors that trigger human puberty are among the central mysteries of reproductive biology. Several approaches, including mutational analysis of candidate genes, large-scale genome-wide association studies, whole exome sequencing, and whole genome sequencing have been performed in attempts to identify novel genetic factors that modulate the human hypothalamic-pituitary-gonadal axis to result in premature sexual development. Genetic abnormalities involving excitatory and inhibitory pathways regulating gonadotropin-releasing hormone secretion, represented by the kisspeptin (KISS1 and KISS1R) and makorin ring finger 3 (MKRN3) systems, respectively, have been associated with sporadic and familial cases of central precocious puberty (CPP). More recently, paternally inherited genetic defects of DLK1 were identified in four families with nonsyndromic CPP and a metabolic phenotype. DLK1 encodes a transmembrane protein that is important for adipose tissue homeostasis and neurogenesis and is located in the imprinted chromosome 14q32 region associated with Temple syndrome. In this review, we highlight the clinical and genetic features of patients with CPP caused by DLK1 mutations and explore the involvement of Notch signaling and DLK1 in the control of pubertal onset.

Authors+Show Affiliations

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

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31972862

Citation

Macedo, Delanie B., and Ursula B. Kaiser. "DLK1, Notch Signaling and the Timing of Puberty." Seminars in Reproductive Medicine, vol. 37, no. 4, 2019, pp. 174-181.
Macedo DB, Kaiser UB. DLK1, Notch Signaling and the Timing of Puberty. Semin Reprod Med. 2019;37(4):174-181.
Macedo, D. B., & Kaiser, U. B. (2019). DLK1, Notch Signaling and the Timing of Puberty. Seminars in Reproductive Medicine, 37(4), pp. 174-181. doi:10.1055/s-0039-3400963.
Macedo DB, Kaiser UB. DLK1, Notch Signaling and the Timing of Puberty. Semin Reprod Med. 2019;37(4):174-181. PubMed PMID: 31972862.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - DLK1, Notch Signaling and the Timing of Puberty. AU - Macedo,Delanie B, AU - Kaiser,Ursula B, Y1 - 2020/01/23/ PY - 2020/1/24/entrez PY - 2020/1/24/pubmed PY - 2020/1/24/medline SP - 174 EP - 181 JF - Seminars in reproductive medicine JO - Semin. Reprod. Med. VL - 37 IS - 4 N2 - The factors that trigger human puberty are among the central mysteries of reproductive biology. Several approaches, including mutational analysis of candidate genes, large-scale genome-wide association studies, whole exome sequencing, and whole genome sequencing have been performed in attempts to identify novel genetic factors that modulate the human hypothalamic-pituitary-gonadal axis to result in premature sexual development. Genetic abnormalities involving excitatory and inhibitory pathways regulating gonadotropin-releasing hormone secretion, represented by the kisspeptin (KISS1 and KISS1R) and makorin ring finger 3 (MKRN3) systems, respectively, have been associated with sporadic and familial cases of central precocious puberty (CPP). More recently, paternally inherited genetic defects of DLK1 were identified in four families with nonsyndromic CPP and a metabolic phenotype. DLK1 encodes a transmembrane protein that is important for adipose tissue homeostasis and neurogenesis and is located in the imprinted chromosome 14q32 region associated with Temple syndrome. In this review, we highlight the clinical and genetic features of patients with CPP caused by DLK1 mutations and explore the involvement of Notch signaling and DLK1 in the control of pubertal onset. SN - 1526-4564 UR - https://www.unboundmedicine.com/medline/citation/31972862/DLK1,_Notch_Signaling_and_the_Timing_of_Puberty L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0039-3400963 DB - PRIME DP - Unbound Medicine ER -