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...
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| Format: | Article |
| Language: | English |
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BMC
2019-01-01
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| Series: | Italian Journal of Pediatrics |
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| Online Access: | http://link.springer.com/article/10.1186/s13052-019-0601-6 |
| _version_ | 1818514125160972288 |
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| author | Nosrat Ghaemi Martha Ghahraman Samaneh Noroozi Asl Rahim Vakili Fatemeh Fardi Golyan Meysam Moghbeli Mohammad Reza Abbaszadegan |
| author_facet | Nosrat Ghaemi Martha Ghahraman Samaneh Noroozi Asl Rahim Vakili Fatemeh Fardi Golyan Meysam Moghbeli Mohammad Reza Abbaszadegan |
| author_sort | Nosrat Ghaemi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T00:11:25Z |
| format | Article |
| id | doaj.art-07c45c26da804faba347eeb16136e230 |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-12-11T00:11:25Z |
| publishDate | 2019-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-07c45c26da804faba347eeb16136e2302022-12-22T01:28:07ZengBMCItalian Journal of Pediatrics1824-72882019-01-014511610.1186/s13052-019-0601-6Novel DNA variation of GPR54 gene in familial central precocious pubertyNosrat Ghaemi0Martha Ghahraman1Samaneh Noroozi Asl2Rahim Vakili3Fatemeh Fardi Golyan4Meysam Moghbeli5Mohammad Reza Abbaszadegan6Department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, School of Medicine, Mashhad University of Medical SciencesImmunology Research Center, Mashhad University of Medical SciencesDepartment of Pediatric, Valiasr Hospital, Birjand University of Medical SciencesDepartment of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, School of Medicine, Mashhad University of Medical SciencesImmunology Research Center, Mashhad University of Medical SciencesDepartment of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical SciencesMedical Genetics Research Center, Mashhad University of Medical SciencesAbstract 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.http://link.springer.com/article/10.1186/s13052-019-0601-6Familial precocious pubertyGPR54 geneKisspeptinNovel SNP |
| spellingShingle | Nosrat Ghaemi Martha Ghahraman Samaneh Noroozi Asl Rahim Vakili Fatemeh Fardi Golyan Meysam Moghbeli Mohammad Reza Abbaszadegan Novel DNA variation of GPR54 gene in familial central precocious puberty Italian Journal of Pediatrics Familial precocious puberty GPR54 gene Kisspeptin Novel SNP |
| title | Novel DNA variation of GPR54 gene in familial central precocious puberty |
| title_full | Novel DNA variation of GPR54 gene in familial central precocious puberty |
| title_fullStr | Novel DNA variation of GPR54 gene in familial central precocious puberty |
| title_full_unstemmed | Novel DNA variation of GPR54 gene in familial central precocious puberty |
| title_short | Novel DNA variation of GPR54 gene in familial central precocious puberty |
| title_sort | novel dna variation of gpr54 gene in familial central precocious puberty |
| topic | Familial precocious puberty GPR54 gene Kisspeptin Novel SNP |
| url | http://link.springer.com/article/10.1186/s13052-019-0601-6 |
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