A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations of severe hypercholesterolemia (initial LDL cholesterol=609 mg/dl at the age of one) and systemic intertriginous xanthomas with histories of recurrent self-limiting episodes of fever and arthritis. Both her phenotypes seemed to co-segregate in a recessive manner. We performed WES on this patient, who was considered a proband. Among 206,430 variants found in this individual, we found 18,220 nonsense, missense, or splice site variants, of which 3,087 were rare (minor allele frequency ≤ 0.01 or not reported) in 1000 Genome (Asian population). Filtering by assuming a recessive pattern of inheritance with the use of an in silico annotation prediction tool, we successfully narrowed down the candidates to the compound heterozygous mutations in the ABCG5 gene (c.1256G＞A or p.Arg419His/c.1763-1G＞A [splice acceptor site]) and to the double-compound heterozygous mutations in the MEFV gene (c.329T＞C/C or p.Leu110Pro/c.442G＞C/C or p.Glu148Val). The patient was genetically diagnosed with sitosterolemia and familial Mediterranean fever using WES for the first time. Such a comprehensive approach is useful for identifying causative mutations for multiple unrelated inheritable diseases.出版者照会後に全文公

Heterologous expression of a lectin from Pleurocybella porrigens (PPL) in Phanerochaete sordida YK-624

NOTICE: this is the author’s version of a work that was accepted for publication in Journal of Microbiological Methods. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Journal of Microbiological Methods, VOL100, May 2014. DOI10.1016/j.mimet.2014.02.016autho

Population-neuroscience study of the Tokyo TEEN Cohort (pn-TTC):Cohort longitudinal study to explore the neurobiological substrates of adolescent psychological and behavioral development.

Adolescence is a crucial stage of psychological development and is critically vulnerable to the onset of psychopathology. However, our understanding of how maturation of endocrine, epigenetics, and brain circuit may underlie the psychological development in adolescence has not been integrated. Here, we introduce our research project, the "population-neuroscience study of the Tokyo TEEN Cohort (pn-TTC)," a longitudinal study to explore the neurobiological substrates of development during adolescence