Endocrine Abstracts

The study of humans carrying dominant negative mutations in PPAR gamma has contributed significantly to our understanding of its role in human physiology. To date, comparable studies of PPAR alpha have not been reported. Using a pooled approach, we undertook exon sequencing of PPARA in 11,848 adult participants of the Fenland study, a population-based cohort study with detailed metabolic phenotyping. Twenty-nine PPARA missense variants were detected (allelic ...

Coupling the release of pituitary hormones to the developmental stage of the oocyte is essential for female fertility. It is thought to require estrogen to have simultaneous positive and negative feedback effects on two spatially-distinct regions of the hypothalamus, the arcuate nucleus and ‘AVPV’ nucleus. However, the mechanistic basis for this differential effect is not known. Therefore, we mapped the genomic binding of the estrogen receptor alpha (ERα) in bot...