Keynote: Jon Gertner

The symposium will start on the evening of April 16 with a keynote address by Jon Gertner. Jon is a journalist, historian, and feature writer for The New York Times Magazine as well as the author of the NYTimes bestseller, The Idea Factory. His address will focus on the issue of intellectual property and the ethical questions around the huge amount of human-generated content that large language models use as they are developed

Second primary cancers in thyroid cancer patients: A multinational record linkage study

10.1210/jc.2005-2009Journal of Clinical Endocrinology and Metabolism9151819-1825JCEM

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

SummaryThe DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 mutations result in X-linked adrenal hypoplasia congenita (AHC). Our objective was to identify DAX1 mutations in a series of families, to determine the types of mutations resulting in AHC and to locate single–amino-acid changes in a DAX1 structural model. The 14 new mutations identified among our 17 families with AHC brought the total number of families with AHC to 48 and the number of reported mutations to 42; 1 family showed gonadal mosaicism. These mutations included 23 frameshift, 12 nonsense, and six missense mutations and one single-codon deletion. We mapped the seven single–amino-acid changes to a homology model constructed by use of the three-dimensional crystal structures of the thyroid-hormone receptor and retinoid X receptor α. All single–amino-acid changes mapped to the C-terminal half of the DAX1 protein, in the conserved hydrophobic core of the putative LBD, and none affected residues expected to interact directly with a ligand. We conclude that most genetic alterations in DAX1 are frameshift or nonsense mutations and speculate that the codon deletion and missense mutations give insight into the structure and function of DAX1