Published March 8, 2023
| Version v1
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Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism
Creators
- 1. University Lille, INSERM, CHU Lille, Laboratory of Development and Plasticity of the Neuroendocrine Brain, Lille Neuroscience & Cognition UMR-S 1172, FHU 1000 days for health, Lille, France.
- 2. Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
- 3. Department of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
- 4. Department of Pediatrics, University of Tokyo Graduate School of Medicine, Tokyo, Japan.
- 5. Department of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.
- 6. Department of Endocrinology, Diabetology, and Metabolism, Lindenhofspital, Bern, Switzerland.
- 7. Division of Diabetes, Endocrinology and Metabolism, Imperial College London, London, United Kingdom.
- 8. Department of Experimental and Clinical Medicine, University of Florence, Italy.
Description
The Excel file titled "Raw data ZF_Cotellessa et al" contains data from zebrafish experiments. The first sheet (Figure 5) presents frequencies of control (CNTR) and morphant (jag1bMO) embryos at 48 (Panel D) and 72 (Panel E) hours post-fertilization. These embryos were examined under a confocal microscope and categorized into two phenotypic groups: those with normal fasciculation of GnRH3 neurons and those with defasciculated neurons. The data represent the mean of five independent experiments.
The second sheet (Figure S3) details the analysis of gene expression of hoxaA7a and hoxaA10b in embryos at 24 hours (grey) and 48 hours (light blue) post-fertilization. The analysis compares expression levels between uninjected embryos and embryos injected with standard control (STD) or jag1b (jag1bMO) morpholino. Column A contains sample names, Column B indicates the transcript, Column C specifies the SYBR Green used as a fluorescent reporter, and Columns D-F present the Ct values of the corresponding transcript analyzed in triplicate. The relative expression of hoxaA7a and hoxaA10b (S20-S27) is reported as the mean of three biological experiments (P20-P27; Q20-Q27; R20-R27). For each experiment, ddCT calculations were conducted: 24 hpf: Exp1 (J1-J13 and P2-P18), Exp2 (K1-13 and Q2-Q18) and Exp3 (L1-13 and R2-R18). 48 hpf: Exp1 (J36-J48 and P37-P62), Exp2 (K36-48 and Q37-Q62) and Exp3 (L36-48 and R37-R62).
The Excel file titled " 2021 06 23-JAG1 Collaboration" contains the clinical and biochemical characterization of patients with JAG1 mutations reported in the study. Anonymous patient data at the time of diagnosis, before any therapy, were collected either prospectively or retrospectively . All participants were affected with CHH, including patients with normal olfaction or olfactory defects. For each patient Sex , Ethnicity, Birth Year,Diagnosis, Spontaneous puberty, Olfaction functionality, CHH-associated phenotype , Bone Densitometry, MRI pituitary , Genetic Inheritance , Micropenis, Spontaneous growth spurt and laboratory analysis were annotated.
The Excel file titled " JAG 1 Table 200629" contains the details about the JAG1 allelic variants identified in the study .For each mutation the position , population frequencies, and clin var classification were reported.
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