• Plant Resources
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• v.6 no.2
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• pp.98-101
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• 2003

Colored apiculus, awn, and long empty glume are indicators of wildness and are usually eliminated during rice domestication. Genetic analysis was conducted to clarify the inheritance patterns of awn, apiculus color, and long empty glume in Korean rice collection. Based on individual characterization of F$_2$ progenies derived from crosses between parents with colorless and purple apiculus, two (3 colored: 1 colorless) or three dominant genes (9 purple: 3 red: 4 colorless) are estimated as controlling this character by simultaneous complementary action. Different inheritance systems were detected between S237 and S245 of 'Shareibyeo' which belong to the weedy type. To determine the genes responsible in awning and long empty glume characters, the inheritance of landrace varieties of rice ('Naengdo' and 'Yuna') was investigated. In the crosses of awned land race and awnless cultivar, three dominant genes are supposed to control the awning genetic system by 63 awned: 1 awnless individual. As for long empty glume, one recessive gene, g-l on the chromosome 4, was the one controlling the segregation ratio of 3 normal empty: 1 long empty glume. By analyzing the Korean rice collection, the inheritance systems of these wild characters may lead to a better understanding of rice domestication in the future.

• Korean Journal of Breeding Science
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• v.40 no.1
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• pp.8-14
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• 2008

A complete diallel cross was performed to determine the inheritance of allelopathic potential and combining ability of six rice germplasm that showed different level of allelopathic potential against barnyardgrass. Parents and F1 of 30 crosses were assessed for allelophatic potential in field condition. Barnyardgrass (Echinochloa crus-galli (L.) Beauv. var. frumentaceae) was used for rice allelopathic potential indicator which was observed in height and shoot dry weight, then suppression percentage were calculated by comparing to barnyardgrass grown in control plot (no rice). It was found that general combining ability showed no significant effect, whereas specific combining ability and reciprocal effect were significant. Variance analysis confirmed that genetic control of allelopathic potential in rice against barnyardgrass was mostly directed by dominance gene effect. The dominant genes were associated with high allelopathic potential and recessive genes were associated with low allelopathic potential. Heritability in broad sense for barnyardgrass dry weight suppression was around 41%; whereas for barnyardgrass height suppression was 51%. However, heritability in narrow sense was very low. The finding suggests that accumulation of genes associated with allelopathic potential would be a strategy to develop promising varieties in reference with the specific combining ability of cross combinations.

• Annals of Clinical Neurophysiology
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• v.6 no.2
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• pp.65-74
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• 2004

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

• Biomedical Science Letters
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• v.21 no.4
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• pp.181-187
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• 2015

Osteoporosis is one of the diseases caused by accumulation of effects from complex interactions between genetic and environmental factors. Aging is the major cause for osteoporosis, which normally increases skeletal fragility and bone fracture especially among the elder. "Omics" refers to a specialized research field dealing with high-throughput biological data, such as genomics, transcriptomics, proteomics or metabolomics. Integration of data from multi-omics has been approved to be a powerful strategy to colligate biological phenomenon with multiple aspects. Actually, integrative analyses of "omics" datasets were used to present pathogenesis of specific diseases or casual biomarkers including susceptible genes. In this study, we evaluated the proposed relationship of novel susceptible genes (TREML2, HTR1E, and GLO1) with osteoporosis, which genes were obtained using multi-omics integration analyses. To this end, SNPs of the susceptible genes in the Korean female cohort were analyzed. As a result, one SNP of HTR1E and five SNPs of TREML2 were identified to associate with osteoporosis. The highest significant SNP was $rs6938076^*$ of TREML2 (OR=0.63, CI: 0.45~0.89, recessive P=0.009). Consequently, the susceptible genes identified through the multi-omics analyses were confirmed to have association with osteoporosis. Therefore, multi-omics analysis might be a powerful tool to find new genes associated with a disease. We further identified that TREML2 has more associated with osteoporosis in females than did HTR1E.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.9-15
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• 2010

Congenital hypothyroidism (CH) is detected at a rate of 1 in 3,000 to 4,000 live births, making it the most common congenital endocrine disorder worldwide. CH is most commonly caused by defects in thyroid development leading to thyroid dysgenesis or dyshormonogenesis. Congenital hypothyroidism is usually sporadic, but up to 2% of cases of thyroid dysgenesis are familial, and CH caused by organification defects is often inherited in a recessive manner. The candidate genes associated with this genetically heterogeneous disorder fall into two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSHR gene in nonsyndromic CH, and Gsa and the thyroid transcription factor (TTF-1, TTF-2, and Pax-8) genes, which are associated with different complex syndromes that include CH. Among genes associated with dyshormonogenesis, the TPO and TG genes were initially described, and more recently PDS, NIS, and THOX2 gene defects. There is some evidence for a third group of CH conditions associated with iodothyronine transporter defects that are, in turn, associated with severe neurological sequelae.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.22 no.1
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• pp.83-109
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• 1977

Isogenic lines for glabrous leaf (gl), hull color(gh) and glutinous endosperm (wx) were used to clarify the effects of the gl, gh and wx gene on the grain yield and yield components in rice plant. Eight genotypes: glgl ghgh wxwx, glgl ghgh WxWx, glgl GH-wxwx, glgl GH-WxWx, GL-ghgh wxwx, GL-ghgh WxWx, GL-GH-wxwx and GL-GH-WxWx were evalutated in the backcrossed $F_2$ generation. Significant effects were measured for gl genotypes on heading date, gh genotypes on grain fertility, and wxwx genotypes on number of panicles per hill and 1, 000 grain weight. The grain yield of straw hull and non glutinous lines were higher than gold hull and glutinous lines. The interaction of three genes, gl, gh and wx was significant for heading date, but not significant in other characters. The average value of isogenic lines which were combined with two recessive genes and one dominant gene were lower and the C.V. value was higher than the isogenic lines which were combined with two dominant genes and one recessive gene in all characters except plant height and number of grains per plant. The average value of isogenic line combined with three recessive genes was lower and the C.V. was higher than the isogenic line combined three dominant genes in all characters measured.

• Journal of Microbiology and Biotechnology
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• v.16 no.2
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• pp.256-263
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• 2006

In the model legume Medicago truncatula, two mutants, sickle and sunn, exhibit morphologically and genetically distinct hypernodulation phenotypes. However, efforts to isolate the single recessive and single semidominant genes for sickle and sunn, respectively, by map-based cloning have so far been unsuccessful, partly due to the absence of clones that enable walks from linked marker positions. To help resolve these difficulties, a new bacterial artificial chromosome (BAC) library was constructed using BamHI-digested genomic fragments. A total of 23,808 clones were collected from ligation mixtures prepared with double-size-selected high-molecular-weight DNA. The average insert size was 116 kb based on an analysis of 88 randomly selected clones using NotI digestion and pulsed-field gel electrophoresis. About 18.5% of the library clones lacked inserts. The frequency of the BAC clones carrying chloroplast or mitochondrial DNA was 0.98% and 0.03%, respectively. The library represented approximately 4.9 haploid M. truncatula genomes. Hybridization of the BAC clone filters with a $C_{0}t-l$ DNA probe revealed that approximately 37% of the clones likely carried repetitive sequence-enriched DNA. An ordered array of pooled BAC DNA was screened by polymerase chain reactions using 13 sequence-characterized molecular markers that belonged to the eight linkage groups. Except for two markers, one to five positive BAC clones were obtained per marker. Accordingly, the sickle- and sunn-linked BAC clones identified herein will be useful for the isolation of these biotechnologically important genes. The new library will also provide clones that fill the gaps between preexisting BAC contigs, facilitating the physical mapping and genome sequencing of M. truncatula.

• Journal of Korean Neurosurgical Society
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• v.52 no.1
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• pp.7-13
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• 2012

Objective : The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of fibroblast growth factor (FGF) 2 gene and fibroblast growth factor receptor (FGFR) genes are associated with ossification of the posterior longitudinal ligament (OPLL). Methods : A total of 157 patients with OPLL and 222 controls were recruited for a case control association study investigating the relationship between SNPs of FGF2, FGFR1, FGFR2 and OPLL. To identify the association among polymorphisms of FGF2 gene, FGFR1, FGFR2 genes and OPLL, the authors genotyped 9 SNPs of the genes (FGF2 : rs1476217, rs308395, rs308397, and rs3747676; FGFR1 : rs13317 and rs2467531; FGFR2 : rs755793, rs1047100, and rs3135831) using direct sequencing method. SNPs data were analyzed using the SNPStats, SNPAnalyzer, Haploview, and Helixtree programs. Results : Of the SNPs, a SNP (rs13317) in FGFR1 was significantly associated with the susceptibility of OPLL in the codominant (odds ratio=1.35, 95% confidence interval=1.01-1.81, p=0.048) and recessive model (odds ratio=2.00, 95% confidence interval=1.11-3.59, p=0.020). The analysis adjusted for associated condition showed that the SNP of rs1476217 (p=0.03), rs3747676 (p=0.01) polymorphisms in the FGF2 were associated with diffuse idiopathic skeletal hyperostosis (DISH) and rs1476217 (p=0.01) in the FGF2 was associated with ossification of the ligament flavum (OLF). Conclusion : The results of the present study revealed that an FGFR1 SNP was significantly associated with OPLL and that a SNP in FGF2 was associated with conditions that were comorbid with OPLL (DISH and OLF).

• Korean Journal of Microbiology
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• v.20 no.4
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• pp.173-182
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• 1982

From FGSC 159 strain of Aspergillus nidulans, temperature sensitive mutants that are defective in growth and differentiation have been isolated by N-methyl-N'-nitroN-nitrosoguanidine (NTG) treatment. The optimum concentration of NTG and incubation time to get the highest mutation frequency was $100{\mu}g$ per ml and 1 hour, respectively. The survival frequency was 1%. Among the isolated mutants, five strains that were affected in early steps of differentiation were selected for further studies and named smK, smY, smB, smF, and smZ. The execution point of each mutant was determined and the growing pattern of each mutant at the restrictive temperature was observed under the microscope. Growth of mutant was arrested near at the execution point. From genetic analysis, each temperature-sensitive mutants was thought to have a single recessive gene. The genes of smK, smY, smB, smF, and smZ are linked to the chromosome VII, IV, VIII, I, and VI, respectively. It can be concluded that the genes controlling the differentiation are widely dispersed in the genome. From the results of mutant, smK, it is considered that a single gene can affect a function (functions) which act(s) at two different steps during differentiation.

• Journal of Sericultural and Entomological Science
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• v.3
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• pp.29-31
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• 1963

This work was carried out to know the hereditary phenomenon of. the egg markings with 4 races preserved at Sericultural Experiment Station from 1962 to 1963. The results are as follows: 1. When crosses (Fig. 1) were made between females showing reticulate egg marks and males showing collected egg markings, the F$_1$ markings were all reticulate. From the reciprocal cross was made between the collected marking females and the reticulate marking males (Fig. 2), all the F$_1$ progeny showed the collected egg markings. 2. In the F$_2$ the expected phenotype for reticulate markings (recessive) was not expressed but the collected markings (dominance) were always appeared. 3. When each F$_2$ moth was inbred, the usual 3:1 ratio was obtained. 4. The F$_1$ egg markings as well as the spindle shape egg were not determined by its own genes but by the genes of its mother, because those were formed before fertilization. The results of such influences, when they can be identified, are called material effects. And such a phenomenon was called pseudomaternal inheritance by Tanaka. (1919)