ESPE Yearbook of Paediatric Endocrinology

Brief Summary:Using a new method, long DNA fragments from single human T-cells were sequenced after refined automated single-cell processing and droplet-based whole-genome amplification using PacBio HiFi sequencing. Compared to short-read technologies, the new long-read method markedly improved analyses of genetic variants, especially complex structural variations and variants in repeat elements; it also allowed de novo assembly of parts of the single-cell genome.<p class=...

Brief Summary:This study in mice and humans shows how paternal overweight at conception affects the metabolism of their offspring. Sperm-borne mt-sncRNAs (mitochondrial encoded or derived small non-coding RNAs) are altered by a 2-week high fat diet (HFD) challenge in mice, likely through specific upregulation of mt-tsRNAs (mitochondrial transfer RNAs) caused by mitochondrial dysfunction. In humans, mt-tsRNAs in spermatozoa correlate with body mass index. Genetically engineered...

Brief Summary:This study reveals how castration resistant prostate cancers (CRPC) can produce androgens and become resistant to the inhibitor of androgen production abiraterone. The authors uncover dual phosphorylated-SREBF1 as a sensor of androgen deficiency. Its nuclear translocation and deposition of H2A-K130ac epigenetic marks activates a distinct transcription program that includes SREBF1. This will then lead to intratumoral cholesterol and androgen biosynthesis, liberati...