Whole-Genome Sequencing Reveals Autooctoploidy in Chinese Sturgeon and Its Evolutionary Trajectories

Life Sciences, Genetics, Microbiology,
Chinese sturgeon   whole-genome sequencing   autooctoploid   polyploidization   diploidization   whole-genome duplication  

Whole-Genome Sequencing Reveals Autopolyploidy and Evolutionary Trajectory of Chinese Sturgeon Background Chinese sturgeon (Acipenser sinensis), as a member of the sturgeon subclass, is an ancient fish group. Due to its unique genome structure and economic value, the conservation and research of Chinese sturgeon are of great significance. Sturgeons...

Loss-of-function mutation of the ADNP gene causes Helsmoortel-van der Aa syndrome

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
ADNP   Helsmoortel-van der Aa syndrome   mutation   whole-genome sequencing   episignature  

Based on the research of Helsmoortel-Van der Aa syndrome (HVDAS) caused by ADNP gene mutations, D’Incal et al. published an in-depth research paper in the European Journal of Human Genetics. Through a case study of a five-year-old girl, the team discovered a three-base pair deletion at the splice acceptor site of the first coding exon of ADNP. This...