Complete genome sequence analysis of a novel Staphylococcus phage StAP1 and proposal of a new species in the genus Silviavirus
ARCHIVES OF VIROLOGY
Authors: Senevirathne, Amal; Ghosh, Kuntal; Roh, Eunjung; Kim, Kwang-Pyo
Abstract
Bacteriophage StAP1 was isolated from a soil sample infecting Staphylococcus aureus and S. xylosus. Its genome was found to be 135,502 base pairs (bp) long with 30.00 mol% G+C content and 192 open reading frames. While no tRNA encoding genes were identified, 7 mobile elements were found to interrupt five StAP1 open reading frames. Comparative genomic and proteomic analysis consistently supports the establishment of a new species in the genus Silviavirus.
Failure of cosegregation between a rare STAP1 missense variant and hypercholesterolemia
JOURNAL OF CLINICAL LIPIDOLOGY
Authors: Mohebi, Reza; Chen, Qinzhong; Hegele, Robert A.; Rosenson, Robert S.
Abstract
Autosomal dominant familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol levels and an increased risk for atherosclerotic cardiovascular disease. Although rare pathogenic variants in genes encoding the low-density lipoprotein receptor, apolipoprotein B, proprotein convertase subtilisin/kexin 9 are found in more than 80% of molecularly defined patients with FH, a few rare minor causative genes have been proposed, including the gene encoding signal-transducing adaptor family member 1 (STAP1). Here, we describe a patient with hypercholesterolemia and the rare heterozygous missense variant p.D207N in STAP1. However, extending the pedigree showed failure of the variant to cosegregate with hypercholesterolemia, as both his sons were carriers of the variant and both were also normolipidemic. The findings add to the evidence against STAP1 as a genetic locus for FH. (C) 2020 National Lipid Association. All rights reserved.