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Novel DNA variation of GPR54 gene in familial central precocious puberty.

ABSTRACT: BACKGROUND:Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal and postnatal development. Kisspeptin/G protein-coupled receptor-54, is as an essential gatekeeper and regulator of GnRH neurons, and a key factor in initiation of puberty. Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively. This study was designed to evaluate variations of GPR54 in familial precocious puberty. METHODS:Genomic DNA was extracted from peripheral whole blood of 25 subjects with familial precocious puberty. Coding exons 1-5 of the GPR54 gene were amplified by polymerase chain reaction (PCR) and the PCR products were purified and sequenced. DNA sequences were compared to the human GenBank GPR54 sequence using Sequencher sequence alignment software. RESULTS:We detected three different Single Nucleotide Polymorphisms (SNPs) in GPR54: rs10407968 (24A?>?T) in 13 subjects (52%); rs3050132 (1091?T?>?A) in 16 subjects (64%), and a novel polymorphism (492C?>?G) in one subject (4%), while three subjects (12%) had no SNPs. No mutations were found in the GPR54 gene. CONCLUSIONS:Regarding the presence of SNPs in 88% of the subjects in this study, it is likely a relationship exists between the SNPs of the GPR54 gene and familial precocious puberty. Further research is needed to investigate this possibility, and potential functional effects of these polymorphisms.

SUBMITTER: Ghaemi N

PROVIDER: S-EPMC6329138 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Novel DNA variation of GPR54 gene in familial central precocious puberty.

Ghaemi Nosrat N Ghahraman Martha M Noroozi Asl Samaneh S Vakili Rahim R Fardi Golyan Fatemeh F Moghbeli Meysam M Abbaszadegan Mohammad Reza MR

Italian journal of pediatrics 20190111 1

<h4>Background</h4>Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal and postnatal development. Kisspeptin/G protein-coupled receptor-54, is as an essential gatekeeper and regulator of GnRH neurons, and a key factor in initiation of puberty. Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively. This ...[more]

PMID: 30635063

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Project description:BackgroundRecent studies demonstrated that changes in DNA methylation (DNAm) and inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty. We aimed to investigate the association of DNAm profiling with the timing of human puberty analyzing the genome-wide DNAm patterns of peripheral blood leukocytes from ten female patients with central precocious puberty (CPP) and 33 healthy girls (15 pre- and 18 post-pubertal). For this purpose, we performed comparisons between the groups: pre- versus post-pubertal, CPP versus pre-pubertal, and CPP versus post-pubertal.ResultsAnalyzing the methylome changes associated with normal puberty, we identified 120 differentially methylated regions (DMRs) when comparing pre- and post-pubertal healthy girls. Most of these DMRs were hypermethylated in the pubertal group (99%) and located on the X chromosome (74%). Only one genomic region, containing the promoter of ZFP57, was hypomethylated in the pubertal group. ZFP57 is a transcriptional repressor required for both methylation and imprinting of multiple genomic loci. ZFP57 expression in the hypothalamus of female rhesus monkeys increased during peripubertal development, suggesting enhanced repression of downstream ZFP57 target genes. Fourteen other zinc finger (ZNF) genes were related to the hypermethylated DMRs at normal puberty. Analyzing the methylome changes associated with CPP, we demonstrated that the patients with CPP exhibited more hypermethylated CpG sites compared to both pre-pubertal (81%) and pubertal (89%) controls. Forty-eight ZNF genes were identified as having hypermethylated CpG sites in CPP.ConclusionMethylome profiling of girls at normal and precocious puberty revealed a widespread pattern of DNA hypermethylation, indicating that the pubertal process in humans is associated with specific changes in epigenetically driven regulatory control. Moreover, changes in methylation of several ZNF genes appear to be a distinct epigenetic modification underlying the initiation of human puberty.

Dataset Information

Novel DNA variation of GPR54 gene in familial central precocious puberty.

Publications

Novel DNA variation of GPR54 gene in familial central precocious puberty.

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