Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network

Using the Cap Analysis of Gene Expression (CAGE) technology, the FANTOM5 consortium provided one of the most comprehensive maps of transcription start sites (TSSs) in several species. Strikingly, ~72% of them could not be assigned to a specific gene and initiate at unconventional regions, outside promoters or enhancers. Here, we probe these unassigned TSSs and show that, in all species studied, a significant fraction of CAGE peaks initiate at microsatellites, also called short tandem repeats (STRs). To confirm this transcription, we develop Cap Trap RNA-seq, a technology which combines cap trapping and long read MinION sequencing. We train sequence-based deep learning models able to predict CAGE signal at STRs with high accuracy. These models unveil the importance of STR surrounding sequences not only to distinguish STR classes, but also to predict the level of transcription initiation. Importantly, genetic variants linked to human diseases are preferentially found at STRs with high transcription initiation level, supporting the biological and clinical relevance of transcription initiation at STRs. Together, our results extend the repertoire of non-coding transcription associated with DNA tandem repeats and complexify STR polymorphism

ANXIETY AND REPORTING OF SYMPTOMS IN JUVENILE LABILE HYPERTENSIVES : A PROSPECTIVE STUDY

Fifty three, male juvenile hypertensives (20-22 years old) with recent onset were used fos this study. They were picked up through annual health survey from 2879 university students. Criteria for hypertension was systolic blood pressure (SBP) over 150 mm Hg, and (or) diastolic blood pressure (DBP) over 90 mm Hg. Tachycardia was with heart rate over 100 per minute. In psychoiogical study, Taylor\u27s Manifest Anxiety Scale (MAS) and Cornell Medical Index (CMI) were used. Students with systolic and diastolic hypertension showed lower M-R scores in CMI, and lower anxiety scores in MAS than the normotensives. Hypertensive group with or without tachycardia had lower M-R scores in CMI and anxiety scores in MAS than the normotensives with tachycardia. Frequency of hypertension had negative correlationship with M-R scores, that is, students with sustained hypertension reported significantly less subjective symptoms than normotensives or borderline cases. This fact was confirmed with essential hypertension patients

若年性動搖性高血圧群の心理学的側面

Fifty three, male juvenile hypertensives (20-22 years old) with recent onset were used fos this study. They were picked up through annual health survey from 2879 university students. Criteria for hypertension was systolic blood pressure (SBP) over 150 mm Hg, and (or) diastolic blood pressure (DBP) over 90 mm Hg. Tachycardia was with heart rate over 100 per minute. In psychoiogical study, Taylor's Manifest Anxiety Scale (MAS) and Cornell Medical Index (CMI) were used. Students with systolic and diastolic hypertension showed lower M-R scores in CMI, and lower anxiety scores in MAS than the normotensives. Hypertensive group with or without tachycardia had lower M-R scores in CMI and anxiety scores in MAS than the normotensives with tachycardia. Frequency of hypertension had negative correlationship with M-R scores, that is, students with sustained hypertension reported significantly less subjective symptoms than normotensives or borderline cases. This fact was confirmed with essential hypertension patients

Situational Influence in Juvcnile Labile Hypertension

Hypertension and emotional stress has been discussed from various standpoints. We realized the importance of the situationai effect on blood pressure, especially at mass examination. For this study, we chose 53 homogenous male hypertensives (20-22 years old). Systolic blood pressure (SBP) was over 150 mm Hg, diastolic blood pressure (DBP) over 90 mm Hg. They were the \u22virgin cases\u22 picked up from 2879 university students through annual health survey. For this study five different phases with the span of three months were set up and the change of blood pressure and heart rate was recorded. At the second phase, which means the first recall for the further examination , most of the examinees showed significantly higher blood pressure and heart rate, which was sustained through next phase III, and IV. In phase II to IV blood pressure was measured by three doctors. However, both blood pressure and heart rate decreased within the normal limit after an interview and orientation on hypertension by a doctor in the relaxed mood. At first phase, most of them showed systolic hypertension with tachycardia over 100 per minute (90% of all), of which type varied afterwards ; high blood pressure with SBP and DBP increased as well as that of SBP. It is of interest that DBP increased at the second phase, being sustained throughout the following phases. DBP was less influenced even after doctor\u27s interview in the relaxed mood. These phenomena might be the characteristics in juvenile labile hypertension. Thus, the screening of the hypertensives should include blood pressure measurement after appropriate interval under relaxed doctor-patient relationship

酵素法による毛細管血中乳酸測定

標準的な酸素法による乳酸測定法(Hohorst)を改変し,微量血中の乳酸測定を行なった。採血をヘパリンコートした毛細管ピペットで行ない,血液を4容の0.6M過塩素酸(PCA)で除蛋白,PCA抽出液の中和を省略,乳酸脱水素酵素存在時と非存在時での25℃,60分反応後の340nmの吸光度を測定することにより,容易に,通常の分光光度計で(特殊な測定機器を用いず)微量血中の乳酸が測定可能であった。Standard enzymatic method for lactate determination was modified : (1) the blood was deproteinized with 4 volume of 0.6 M perchloric acid (PCA), (2) neutralization of the PCA extract was omitted, and (3) the absorbance at 340 nm was measured only once after 60 min. incubation with and without lactate dehydrogenase. Lactate level could be calculated from the absorbance difference between with and without the enzyme. One reference (any sample incubated without the enzyme) was necessary for one series of measurement. Lactate level up to 15 mmoles/1 could be determined without varying the sample volume. Use of heparin-coated capillary pipet allowed easy and accurate sampling of 45μ1 of blood from the ear lobe. Lactate level in this volume of the sample could be deternined with a standard spectropho. tometer

Computer Analysis of Electrocardiogram in Medical Mass Examination of University Students

Computer analysis of conventional 12 lead electrocardiograms were performed in 1486 male students of about 19 years old and 209 patients, using two different systems made in Japan. One system (X) were used in a half of subjects and another system (Y) in another half of them, respectively. One physician checked all of the computer diagnosis in them. Compared with physician\u27s diagnosis, both system showed various sensitivity (70-100%) and high specificity in electrocar-diographic findings. X system revealed lower sensitivity in short P-Q, first degree atrio-ventricular block and arrhythmias, compared with Y system. High incidence of left ventricular hypertrophy was observed in the diagnosis of both systems ; 19.3% in X system and 25.9% in Y system, respectively. Almost all of those students, who were diagnosed as left ventricular hypertrophy by computer analysis, showed neither left ventricular hypertrophy nor enlargement in echocardiogram and chest X-ray. These results suggest that new criteria for left ventricular hypertrophy in adolescent is necessary. It is concluded that computer analysis are useful for medical mass examination in university students, although partial modifications of programs are required

Psychological Approach to Juvenile, Labile Hypertension

A psychological test (variant CMI) was performed in 72 hypertensive and 72 normotensive students. The hypertensives were selected from cases whose blood pressure was either above 140 mmHg in systolic pressure or above 90 mmHg in diastolic pressure at the regular medical examination of Kyushu University, and then they were divided into the following three groups on the ground that how many times they showed the blood pressure either above 150 mmHg in systolic pressure or above 90 mmHg in diastolic pressure during three successive days ; (1) Group 1 showing the criteria at any time (2) Group 2 showing the criteria once or twice (3) Group 3 showing no criteria at any time. The results were as follows ; (1) The rate of neurotic region in the hypertensives was lower than that in the normotensives. (2) The rate of neurotic region among three hypertensive groups decreased in the following order : Group 3＞Group 2＞ Group 1. (3) Students (Gen\u27eki) who passed the college entrance examination direclty upon graduation seemed to show the higher rate of neurotic region, compared with students (Rohnin) who failed to the first college entrance examination, in both the hypertensives and the normotensives. (4) The rate of tachycardia in the hypertensives was higher than that in the normotensives. (5) The rate of tachycardia among three hypertensive groups decreased in the following order : Group 1＞Group 2＞Group 3. A hypothesis for the pathophysiological mechanism was proposed

Physical Activity, Nutritional condition, Body Composition and Serum Lipids

A comparative study of physical activity (maximal aerobic power), nutritional condition, body composition and serum lipids was carried out on 92 adult males, 20-49 years of age, as a basic study for determing the optimal living conditions in modern society or in future ages. Subjects have a wide range of occupational physical activity, however, most of them do not participate the very heavy physical works such as competitive sports etc. Measurement of maximal aerobic power (MAP) was made indirectly by the method of Margaria et al.. Subjects except 10 persons who were prohibited the exercise were given two different intensity step up and down exercises, and MAP was calculated from heart rates immediately after exercises and individual\u27s estimated maximal heart rate. %Fat was estimated from skinfold thickness according to the method of Nagamine. Nutritional observation was conducted by a routine questioning. Checks and counterchecks were done until reliable figures had been obtained. After fasting overnight, blood samples were collected for analyzing serum lipids such as total choresterol, HDL choresterol and triglycerides. A certain relation was not found between total choresterol and MAP or %Fat. However, HDL choresterol and triglycerides were affected profoundly by the physical activity and the body composition. Fit group (mean MAP above 40 ml/kg/min) showed higher HDL choresterol and lower %Fat than unfit group (P＜0.05, P＜0.01). Obese group, in a relative sense, showed lower HDL choresterol and higher triglycerides than non-obese group (P＜0.001, P＜0.01). However, relations between %Fat or hyperlipoidemia and caloric intake per total body weight or per lean body mass were not clear. H group (HDL below 40 mg/dl) and HT group (HDL below 40 mg/dl & TG above 150 mg/dl) were more inactive and more fatty than control group (P＜0.01). However, caloric intake of control group was higher than that of H group and HT group (P＜0.05. P＜0.05). Moreover, control group had higher intake of protein, lipid and non-fiborous carbohydrate than those of H group and HT group. It seems that active life is the most important factor to prevent the obese or hyperlipoidemia and that moderate exercises of long duration are desirable In modern society