Abstract Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test. There is a lack of agreement to return the SF results for individuals undergoing the test. The aim of this study is to investigate the frequency of actionable secondary findings using GS data obtained from the rare disease study and the Korean Genome and Epidemiology Study (KoGES) in the National Project of Bio Big Data pilot study. Pathogenic (P) or likely pathogenic (LP) variants of 78 SF genes recommended by the American College of Medical Genetics and Genomics (ACMG) were screened in the rare disease study and KoGES. The pathogenicity of SF gene variants was determined according to the ACMG interpretation. The overall SF rate was 3.75% for 280 individuals with 298 P/LP variants of 41 ACMG SF genes which were identified among 7472 study participants. The frequencies of genes associated with cardiovascular, cancer, and miscellaneous phenotypes were 2.17%, 1.22%, and 0.58%, respectively. The most frequent SF gene was TTN followed by BRCA2 . The frequency of actionable SFs among participants with rare disease and general population participants in the Korean population presented here will assist in reporting results of medically actionable SFs in genomic medicine.
The Belle II at the SuperKEKB collider in Japan has been constructed toward a physics run in early of 2018 with an ultimate target of 40 times higher instantaneous luminosity than the KEKB collider, which was $2.1\times10^{34} cm^{-2} s^{-1}$. The main physics motivation is to search for the New Physcis from heavy quark/lepton flavor decays. We have upgraded the Electromagnetic Calorimeter(ECL) hardware trigger system in order to select an event of interest efficiently under much higher luminosity and beam background environment than the KEKB. ECL trigger logic based on two main triggers, the total energy and the number of clusters, would be improved with an FPGA-based flexible architecture and a high speed serial link for the data transfer. In this report, progress of the ECL trigger system development will be outlined and preliminary results from beam collision data in Phase II run will be described.
Wild boar, Sus scrofa, is an extant wild ancestor of the domestic pig as an agro-economically important mammal. Wild boar has a worldwide distribution with its geographic origin in Southeast Asia, but genetic diversity and genetic structure of wild boar in East Asia are poorly understood. To characterize the pattern and amount of genetic variation and population structure of wild boar in East Asia, we genotyped and analyzed microsatellite loci for a total of 238 wild boar specimens from ten locations across six countries in East and Southeast Asia. Our data indicated that wild boar populations in East Asia are genetically diverse and structured, showing a significant correlation of genetic distance with geographic distance and implying a low level of gene flow at a regional scale. Bayesian-based clustering analysis was indicative of seven inferred genetic clusters in which wild boars in East Asia are geographically structured. The level of genetic diversity was relatively high in wild boars from Southeast Asia, compared with those from Northeast Asia. This gradient pattern of genetic diversity is consistent with an assumed ancestral population of wild boar in Southeast Asia. Genetic evidences from a relationship tree and structure analysis suggest that wild boar in Jeju Island, South Korea have a distinct genetic background from those in mainland Korea. Our results reveal a diverse pattern of genetic diversity and the existence of genetic differentiation among wild boar populations inhabiting East Asia. This study highlights the potential contribution of genetic variation of wild boar to the high genetic diversity of local domestic pigs during domestication in East Asia.
Chytridiomycosis, a disease caused by the chytrid fungus Balrachochytrium dendrob1tidis (Bd), is one of the most serious causes of amphibian decline in the world. We
report the infection of an exotic frog (White's tree frog Litoria caerulea) imported as a pet to South Korea from the United States. The frog displayed typical signs of
chytridiomycosis and eventually died. Bd-specific polymerase chain reaction assay, histopathological and immunohistopathological examinations using Bd-specific polyclonal antibody proved that the frog was infected with Bd. This is the first report in Korea of an imported amphibian that was suspected to have died from chytridiomycosis. The case demonstrates that Bd can enter Korea on imported amphibians. All imported amphibians should be regarded as infected with Bd and isolated until they are proven negative by PCR testing. The impact of imported Bd on wild populations of Korean amphibians is unknown and requires investigation.
It is well known that insulin stimulates skeletal muscle growth. However, it is currently unknown how insulin does so since it was previously shown that insulin receptors expressed by skeletal muscles are dispensable in this regard. In this study, we focused on insulin receptors expressed by the cholinergic motor neurons and generated conditional knockout mice which lack insulin receptors specifically in the cholinergic neurons. We found that insulin activates cholinergic motor neurons and that insulin receptors expressed by the cholinergic neurons are required for normal growth of skeletal muscle. We also noted that the conditional knockout mice have underdeveloped neuromuscular junction and compromised skeletal muscle function. Together, our study suggests that insulin stimulates and activates cholinergic motor neurons to promote normal skeletal muscle growth and function. This work was supported by the National Research Foundation of Korea (NRF-2022R1A2C3005613 to Jong-Woo Sohn) funded by the Korean Ministry of Science and ICT. This is the full abstract presented at the American Physiology Summit 2024 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.
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