Project description:Hypothalamic hamartomas (HHs) are congenital lesions of the neuroendocrine brain composed of neurons and astroglia. Frequently, HHs are associated with central precocious puberty (CPP) and/or gelastic seizures. Because HHs might express genes similar to those required for the initiation of normal puberty we used cDNA arrays to compare the gene expression profile of a HH associated with CPP with three HHs not accompanied by sexual precocity. Our aim was to identify genes whose expression may be selectively altered in the HH with CPP and hence, involved in the onset of puberty. Keywords: comparison between HH with and without CPP
Project description:Hypothalamic hamartomas (HHs) are congenital lesions of the neuroendocrine brain composed of neurons and astroglia. Frequently, HHs are associated with central precocious puberty (CPP) and/or gelastic seizures. Because HHs might express genes similar to those required for the initiation of normal puberty we used cDNA arrays to compare the gene expression profile of a HH associated with CPP with three HHs not accompanied by sexual precocity. Our aim was to identify genes whose expression may be selectively altered in the HH with CPP and hence, involved in the onset of puberty. Experiment Overall Design: Affymetrix arrays were used to detect global changes in gene expression. The results of this analysis were confirmed by semi-quantitative PCR.
Project description:MKRN3, whose deletion or loss-of-function mutations were genetically associated with human centeral precocious puberty (CPP). To identify the potential substrates for MKRN3, MKRN3 was transfected into HEK293T cells as bait, and its interacting proteins were identified by mass spectrum and functions were extensively studied.
Project description:Makorin ring finger protein 3 (MKRN3) was identified as an inhibitor of puberty initiation with the report of loss-of-function mutations in association with central precocious puberty. To investigate the roles and mechanisms of action of MKRN3 within the human hypothalamus, we used hypothalamic neurons derived from human induced pluripotent stem cells (hiPSCs). MKRN3 deletion was introduced into hiPSCs using CRISPR interference (CRISPRi) technology. Three separated hypothalamic differentiation of MKRN3-wildtype hiPSCs (MKRN3-WT I, II and III) and MKRN3-deficient hiPSCs (MKRN3-KO I, II and III) were performed using an established hypothalamic neuron differentiation protocol. To identify hypothalamic targets of MKRN3, we performed comparative transcriptome analysis by RNA sequencing (RNA-seq) of MKRN3-WT and MKRN3-KO hypothalamic neurons after 30 days of differentiation.
Project description:Central precocious puberty (CPP) is a multifactorial and complex condition. Traditional studies focusing on a single indicator cannot always elucidate this panoramic condition but these may be revealed by using omics techniques. Proteomics and metabolomics analysis of girls with CPP were compared to normal controls and the potential biomarkers and pathways involved were explored. Serum proteins and metabolites from normal girls and those with CPP were compared by LC-MS/MS. Multivariate and univariate statistical analysis were used to identify the differentially expressed proteins (DEPs) and differentially expressed metabolites (DEMs). Functional annotation and pathway enrichment analysis were performed by using GO and KEGG databases, and candidate markers were screened. Finally, bioinformatic analysis was used to integrate the results of proteomics and metabolomics to find the key differential proteins, metabolites and potential biomarkers of CPP.
Project description:Mutations in the E3 ubiquitin ligase Mkrn3 are associated with precocious puberty in humans. In order to determine the targets of Mkrn3, we performed a TMT-based proteomic analysis of Mkrn3 WT vs KO mouse brains.
Project description:Puberty marks the end of childhood and achieve sexual maturation and fertility. The role of hypothalamic proteins in regulating puberty onset is unclear. We performed a comprehensive differential proteomics and phosphoproteomics analysis in prepubertal and pubertal goats to determine the roles of hypothalamic proteins and phosphoproteins during the onset of puberty.
2023-04-06 | PXD041426 |
Project description:mIcrobial sequencing of obesity and precocious puberty children
| PRJNA1066884 | ENA
Project description:16S rDNA high-throughput sequencing of the gut microbiota in central precocious puberty patients
Project description:Exploring the effect of m6A methylation modification on the progression of bovine hypothalamic tissue before and after the onset of puberty
