Yliopiston etusivulle Suomeksi På svenska In English Helsingin yliopisto

LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty

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dc.contributor.author Tommiska, Johanna
dc.contributor.author Sorensen, Kaspar
dc.contributor.author Aksglaede, Lise
dc.contributor.author Koivu, Rosanna
dc.contributor.author Puhakka, Lea
dc.contributor.author Juul, Anders
dc.contributor.author Raivio, Taneli
dc.date.accessioned 2011-10-24T13:56:25Z
dc.date.available 2011-10-24T13:56:25Z
dc.date.issued 2011-09-22
dc.identifier.citation BMC Research Notes. 2011 Sep 22;4(1):363
dc.identifier.uri http://hdl.handle.net/10138/28036
dc.description.abstract Abstract Background Pubertal timing is a strongly heritable trait, but no single puberty gene has been identified. Thus, the genetic background of idiopathic central precocious puberty (ICPP) is poorly understood. Overall, the genetic modulation of pubertal onset most likely arises from the additive effect of multiple genes, but also monogenic causes of ICPP probably exist, as cases of familial ICPP have been reported. Mutations in KISS1 and KISSR, coding for kisspeptin and its receptor, involved in GnRH secretion and puberty onset, have been suggested causative for monogenic ICPP. Variation in LIN28B was associated with timing of puberty in genome-wide association (GWA) studies. LIN28B is a human ortholog of the gene that controls, through microRNAs, developmental timing in C. elegans. In addition, Lin28a transgenic mice manifest the puberty phenotypes identified in the human GWAS. Thus, both LIN28B and LIN28A may have a role in pubertal development and are good candidate genes for monogenic ICPP. Methods Thirty girls with ICPP were included in the study. ICPP was defined by pubertal onset before 8 yrs of age, and a pubertal LH response to GnRH testing. The coding regions of LIN28B, LIN28A, KISS1, and KISS1R were sequenced. The missense change in LIN28B was also screened in 132 control subjects. Results No rare variants were detected in KISS1 or KISS1R in the 30 subjects with ICPP. In LIN28B, one missense change, His199Arg, was found in one subject with ICPP. However, this variant was also detected in one of the 132 controls. No variation in LIN28A was found. Conclusions We did not find any evidence that mutations in LIN28B or LIN28A would underlie ICPP. In addition, we confirmed that mutations in KISS1 and KISS1R are not a common cause for ICPP.
dc.publisher BioMed Central Ltd
dc.rights.uri http://creativecommons.org/licenses/by/2.0
dc.title LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty
dc.date.updated 2011-10-24T13:56:25Z
dc.language.rfc3066 en
dc.rights.holder Tommiska et al.; licensee BioMed Central Ltd.
dc.type.uri http://purl.org/eprint/entityType/ScholarlyWork
dc.type.uri http://purl.org/eprint/entityType/Expression
dc.type.uri http://purl.org/eprint/type/JournalArticle

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