Interaction between the Wilms tumour factor-1 element in the promoter of Amh and a downstream enhancer is required for a strong expression of the gene in pre-pubertal sertoli cells

Amh (anti-Müllerian hormone) is a single copy gene which is expressed strongly in Sertoli cells in the foetal testis and participates in the onset of sexual differentiation. Its promoter driving the expression of a reporter gene (d2EGFP) has been used to analyse the role of certain defined putative elements and a downstream enhancer element in gene expression. These experiments were carried out in vitro using a line of pre-pubertal mouse Sertoli cells, transienly transfected with circular DNA constructs with variously mutated promoter elements. A downstream enhancer element, situated immediately 3’ of the polyadenylation (PA) signal for Amh, has been inserted in an equivalent position in the d2EGFP construct. When the Amh promoter is unmodified, the downstream enhancer (DE) is positively associated with a large increase in EGFP expression. This is at least partly the consequence of an increased rate of expression by individual cells. Experiments using variously truncated Amh promoters indicate that an upstream region (-214 to -336) may play a minor role in facilitating enhancement. However mutation of the Wilms tumour factor-1 element, situated between the tata box and the start of translation, results in an almost complete suppression of enhancement.

Epididymo-Orchitis in Pre-Pubertal Children. Epidemiology, Etiology, Management and Follow-Up Recommendations

Epididymo-Orchitis (EO) is a disease that may affect males in all ages. Neonates and elderly patients may suffer from bacterial infection due to congenital or aging processes affecting the urinary tract. In sexually active post pubertal and young males sexually transmitted organisms may cause EO. EO is also prevalent in pre pubertal healthy boys;however in this group the etiology, the needed imaging modalities and proper management are not clearly defined yet. This manuscript will systematically review the various etiologies causing EO in pre-pubertal boys, discus about the needed proper imaging, and image interpretation, will give treatment and follow-up recommendations.

Mutation analysis of cathepsin C gene in a Chinese patient with pre-pubertal periodontitis

Pre-pubertal periodontitis ( PPP) is a rare and rapidly progressive form ofearly onset periodontitis resulting in premature tooth loss of primary and permanent dentitions.Mutations in cathepsin C ( CTSC) gene have been found in patients with pre-pubertal periodontitisand Papillon-Lefevre syndrome which also characterized with severe periodontitis and palmoplantarhyperkera-tosis. To date, more than 40 mutations of CTSC gene have been identified in ethnicallydiverse people worldwide. However, there is no such genetic analysis in China. In the present study,we report the mutation analysis of a Chinese patient with PPP.

The Transcription Factors GATA-1 and GATA-4 Have Opposite Effects on DNA Expression Driven by an Amh Promoter

An Amh promoter driving expression of a reporter gene (d2EGFP) has been used to analyze the role of two specific promoter transcription factor binding elements. In addition a downstream (3’) enhancer (DE) was also investigated. The transcription factors GATA-1 and GATA-4 had opposite effects, the former being incremental and the latter decremental. The quantitative balance between these two factors may provide a degree of control over the level of gene expression.

Investigating the Modulatory Role of Chronological and Biological Age on Performance Predictors in Youth Swimmers

Purpose The aim of this study was to determine the modulatory roles of biological maturity and age on the predictors of performance in youth swimmers and their stability over a six-month training cycle.Methods In total,28 swimmers(10 pre-pubertal[6 boys],11.1±1.8 years;18 pubertal[8 boys],15.2±2.0 years old)and 26 untrained controls(15 pre-pubertal[10 boys],9.7±1.5 years;11 pubertal[6 boys],14.4±0.5 years old)were recruited.At baseline,3-and 6-months,participants completed an incremental ramp cycle test,isometric handgrip strength test and countermovement jumps,with speed assessed as a measure of performance in swimmers.Principle component analysis(PCA)identified factors that described youth swimmers’physical profile,with linear mixed models subsequently used to determine their interaction with age and maturity on performance.Results Aerobic fitness and upper body strength were significantly higher in the trained participants,irrespective of maturity status or time-point.Four key factors were identified through PCA(anthropometrics;strength;aerobic capacity;aerobic rate),accounting for 90%of the between parameter variance.Age exerted a widespread influence on swimming performance predic-tors,influencing all four factors,whilst maturity only influenced the aerobic factors.The key age of divergence was 13 years.Conclusion Overall,the present study found no evidence of a maturational threshold in the aerobic or strength-related response to training in youth.The influence of age on performance predictors suggests that utilising a single or select group of parameters to inform selection and/or talent identification throughout the dynamic processes of growth and maturation should be avoided.