ESPE Yearbook of Paediatric Endocrinology

Brief Summary: These authors performed exhaustive saturation genome editing (SGE) of BAP1 (BRCA1-associated protein 1), the disruption of which is linked to tumorigenesis and altered neurodevelopment. 18,108 unique variants were characterized, of which 6,196 were found to have abnormal functions. These were then used to evaluate phenotypic associations in the UK Biobank. BAP1 variants were also characterized in a large population-ascertained tumor collection,...

Brief Summary: This study examined the role of the melanocortin 3 receptor ( MC3R ) gene in regulating body weight, height, and puberty timing. It found an association between various non-synonymous variants (NSVs) in the MC3R gene with energy homeostasis and puberty.Melanocortin 3 receptor (MC3R) is a G protein-coupled receptor involved in the hypothalamic system that regulates energy homeostasis, growth and puberty (1,2). Recent studi...