• Journal of Yeungnam Medical Science
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• v.22 no.2
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• pp.166-182
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• 2005

Background: Cyclin-dependent kinase (CDK) inhibitors are family of molecules that regulate the cell cycle. The CDKN2, a CDK4 inhibitor, also called p16, has been implicated in human tumorigenesis. The CDKN2 inhibits the cyclin/CDK complexes which regulate the transition from G1 to S phase of cell cycle. There is a previous report that homozygous deletion of CDKN2 region on chromosome 9p21 was detected frequently in astrocytoma, glioma and osteosarcoma, less frequently in lung cancer, leukemia and ovarian cancer, but not detected in colon cancer and neuroblastoma. However, little is known about the relationship between CDKN2 and laryngeal cancer. Therefore this study was initiated to investigate the role of CDKN2 in human laryngeal squamous cell carcinoma development.1) Materials and methods: We used 5 human laryngeal carcinoma cell lines whether they have deletions or losses of CDKN2 gene expression by DNA-PCR or RT-PCR, respectively. We examined 8 fresh frozen human laryngeal cancer tissues to detect the loss of heterozygosity (LOH) of CDKN2. PCR was performed by using microsatellite markers of short arm of human chromosome 9 (D9S126, D9S144, D9S156, D9S161, D9S162, D9S166, D9S171, D9S200 and D9SIFNA). For informative cases, allelic loss was scored if the signal of one allele was significantly decreased in tumor DNA when compared to the same allele in normal DNA. Results: The CDKN2 DNA deletion was observed in 3 cell lines. The CDKN2 mRNA expression was observed in only one cell line, which was very weak. LOH was detected in 7 cases (87.5%). Conclusion: These results suggest that CDKN2 plays a role in the carcinogenesis of human laryngeal squamous cell carcinoma.

• Horticultural Science & Technology
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• v.30 no.5
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• pp.557-567
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• 2012

This study was conducted to achieve basal information for the development of tomato cultivars with disease resistances through marker-assisted backcross (MAB). Ten inbred lines with TYLCV, late blight, bacterial wilt, or powdery mildew resistance and four adapted inbred lines with superior horticultural traits were collected, which can be useful as the donor parents and recurrent parents in MAB, respectively. Inbred lines collected were evaluated by molecular markers and bioassay for confirming their disease resistances. To develop DNA markers for selecting recurrent parent genome (background selection) in MAB, a total of 108 simple sequence repeat (SSR) primer sets (nine per chromosome at average) were selected from the tomato reference genetic maps posted on SOL Genomics Network. Genetic similarity and relationships among the inbred lines were assessed using a total of 303 polymorphic SSR markers. Similarity coefficient ranged from 0.33 to 0.80; the highest similarity coefficient (0.80) was found between bacterial wilt-resistant donor lines '10BA333' and '10BA424', and the lowest (0.33) between a late blight resistant-wild species L3708 (S. pimpinelliforium L.) and '10BA424'. UPGMA analysis grouped the inbred lines into three clusters based on the similarity coefficient 0.58. Most of the donor lines of the same resistance were closely related, indicating the possibility that these lines were developed using a common resistance source. Parent combinations (donor parent ${\times}$ recurrent parent) showing appropriate levels of genetic distance and SSR marker polymorphism for MAB were selected based on the dendrogram. These combinations included 'TYR1' ${\times}$ 'RPL1' for TYLCV, '10BA333' or '10BA424' ${\times}$ 'RPL2' for bacterial wilt, and 'KNU12' ${\times}$ 'AV107-4' or 'RPL2' for powdery mildew. For late blight, the wild species resistant line 'L3708' was distantly related to all recurrent parental lines, and a suitable parent combination for MAB was 'L3708' ${\times}$ 'AV107-4', which showed a similarity coefficient of 0.41 and 45 polymorphic SSR markers.

• Journal of Animal Science and Technology
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• v.45 no.6
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• pp.939-948
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• 2003

The objective of this study was to identify the quantitative traits loci(QTL) for economically important traits such as growth, carcass and meat quality on pig chromosome 6. A three generation resource population was constructed from cross between Korean native boars and Landrace sows. A total of 240 F$_2$ animals were produced using intercross between 10 boars and 31 sows of F$_1$ animals. Phenotypic data including body weight at 3 weeks, backfat thickness, muscle pH, shear force and crude protein level were collected from F$_2$ animals. Animals including grandparents(F$_0$), parents(F$_1$) and offspring(F$_2$) were genotyped for 29 microsatellite markers and PCR-RFLP marker on chromosome 6. The linkage analysis was performed using CRI-MAP software version 2.4(Green et al., 1990) with FIXED option to obtain the map distances. The total length of SSC6 linkage map estimated in this study was 169.3cM. The average distance between adjacent markers was 6.05cM. For mapping of QTL, we used F$_2$ QTL Analysis Servlet of QTL express, a web-based QTL mapping tool(http://qtl.cap.ed.ac.uk). Five QTLs were detected at 5% chromosome-wide level for body weight of 3 weeks of age, shear force, meat pH at 24 hours after slaughtering, backfat thickness and crude protein level on SSC6.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.2
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• pp.105-110
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• 2004

Objectives: Despite severe oligospermia, males with Y chromosome microdeletion can achieve conception through ICSI (Intracytoplasmic Sperm Injection). However, ICSI may not only result in the transmission of microdeletions but also the expansion of deletion to the offspring. The purpose of this study was to screen vertical transmission, expansion of microdeletions and de novo deletion in male fetuses conceived by ICSI. Materials and Methods: A total of 32 ICSI treated patients with their 33 (a case of twin) male fetuses conceived by ICSI were used to make this study group. Sequence-tagged sites (STSs)-based PCR analyses were performed on genomic DNA isolated from peripheral blood of fathers and from the amniocytes of male fetuses. Ten primer pairs namely, sY134, sY138, MK5, sY152, sY147, sY254, sY255, SPGY1, sY269 and sY158 were used. The samples with deletions were verified at least three times. Results: We detected a frequency of 12.5% (4 of the 32 patients) of microdeletions in ICSI patients. In 4 patients with detected deletions, two patients have proven deletions on single STS marker and their male fetuses have the identical deletion in this region. Another two patients have two and three deletions, but their male fetuses have more than 3 deletions which include deletions to their father's. Meanwhile, seven male fetuses, whose fathers were analyzed to have all 10 STS markers present, have deletions present in at least one or more of the markers. Conclusions: Although the majority of deletions on the Y chromosome are believed to arise de novo, in some cases a deletion has been transmitted from the fertile father to the infertile patient. In other cases the deletion was transmitted through ICSI treatment, it is likely that one sperm cell is injected through the oocyte's cytoplasm and fertilization can be obtained from spermatozoa. Our tests for deletion were determined by PCR and our results show that the ICSI treatment may lead to vertical transmission, expansion and de novo Y chromosome microdeletions in male fetuses. Because the sample group was relatively small, one should be cautious in analyzing these data. However, it is important to counsel infertile couples contemplating ICSI if the male carries Y chromosomal microdeletions.

• Journal of Animal Science and Technology
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• v.44 no.1
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• pp.31-38
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• 2002

Interval mapping using microsatellite markers was employed to detect quantitative trait loci (QTL) in the experimental cross between Berkshire and Yorkshire pigs. In order to derive critical values (CV) for test statistics for declaring significance of QTL, permutation test (PT) of Churchill and Doerge method(1994) and the analytical method(LK) of Lander and Kruglyak(1995) were used by each trait and chromosome. 525 $F_2$ progeny phenotypes of five traits(carcass weight, loin eye area, marbling score, cholesterol content, last back fat thickness) and genotypes of 125 markers covering the genome were used. Data were analyzed by line cross regression interval mapping with an F-test every by 1cM. PT CV were based on 10,000 permutations. CV at genome-wise test were 10.5 for LK and ranged from 8.1 to 8.3 for PT, depending on the trait. CV, differed substantially between methods, led to different numbers of quantitative trait loci (QTL) to be detected. PT results in the least stringent CV compared at the same % level.

• Journal of Oral Medicine and Pain
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• v.33 no.1
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• pp.59-66
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• 2008

Ribosomal Protein S4Y(RPS4Y) gene is the human sex-linked gene on the Y chromosome. There are a number of reports on the sex determination using RPS4Y gene analysis for prevention and diagnosis in sex-linked disease. Thus RPS4Y gene is a reliable genetic marker for sex determination in forensic medicine. In general, the sex determination of an unidentified body can be achieved based on anatomical characteristics, but sometimes sex determination was considered to be difficult such as pre-adolescent bodies or decomposed, mutilated bodies. In this case, Sex determination using PCR method in human teeth produces good results. Because human teeth have a great structural durability, the DNA well preserved in the teeth. So author isolated nuclear DNA from the 20 human teeth(10 males, 10 females), performed to detect RPS4Y gene by PCR method. Samples were divided four group(10 pulp and 10 dentinal tissue in male, 10 pulp and 10 dentinal tissue in female). It was found that detection of RPS4Y gene for sex determination was possible in all the male pulp tissues and 6 out of 10 male dentinal tissues. But there was not detected in female pulp and dentinal tissues. In the view of this results demonstrates the possibility that detection of RPS4Y gene with other sex chromosome genes from the human teeth is useful to sex determination in forensic medicine.

• Proceedings of the Korean Society of Crop Science Conference
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• 2017.06a
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• pp.98-98
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• 2017

Leaf senescence is the process of aging in plants. Chlorophyll degradation during leaf senescence has the important role translocating nutrients from leaves to storage organs. The functional stay-green with slow leaf yellowing and photosynthesis activity maintenance has been considered one of strategy for increasing crop productivity. Here, we have identified two QTLs on chromosome 9 and 10 for leaf senescence with chlorophyll content of RIL population derived from a cross between Hanareum 2, early leaf senescence Indica-type variety, and Unkwang, delayed leaf senescence Japonica variety. Among these QTLs, we chose qPLS1 QTL on chromosome 9 for further study. qPLS1 was found to explain 14.4% of the total phenotypic variation with 11.2 of LOD score. Through fine-mapping approach, qPLS1 QTL locus was narrowed down to about 25kb in the marker interval between In/del-4-7-9 and In/del-5-9-4. There are 3 genes existed within 25kb of qPLS1 locus: LOC_Os09g36200, LOC_Os09g36210, and LOC_Os09g36220. Among these genes, transcript level of LOC_Os09g36200 was increased during the leaf senescence stage and the expression level of LOC_Os09g36200 in Indica was higher than in Japonica. Finally, we chose LOC_Os09g36200 as candidate gene and renamed it as OsPLS1-In and OsPLS1-Jp from Indica- and Japonica-type rice, respectively. OsPLS1-In and OsPLS1-Jp overexpressing transgenic plants showed both early leaf senescence phenotype. These results indicate that OsPLS1 functions in chlorophyll degradation and the difference of expression level of OsPLS1 cause the difference of leaf senescence between Indica and Japonica in rice.

• Journal of Embryo Transfer
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• v.19 no.3
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• pp.291-299
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• 2004

Characterization of quantitative trait loci (QTL) was investigated in the experimental cross population between Berkshire and Yorkshire breed. A total of 512 F$_2$ offspring from 65 matting of F$_1$ parents were phenotyped the carcass traits included average daily gain (ADG), average backfat thickness (ABF), tenth rip backfat thickness (TRF), loin eye area (LEA), and last rip backfat thickness (LRF). All animals were genotyped for 125 markers across the genome. Marker linkage maps were derived and used in QTL analysis based on line cross least squares regression interval mapping. A decision tree to identify QTL with imprinting effects was developed based on tests against the Mendelian mode of QTL expression. To set the evidence of QTL presence, empirical significance thresholds were derived at chromosome-wise and genome-wise levels using specialized permutation strategies. Significance thresholds derived by the permutation test were validated in the data set based on simulation of a pedigree and data structure similar to the Berkshire-Yorkshire population. Genome scan revealed significant evidences for 13 imprinted QTLs affecting growth and body compositions of which nine were identified to be QTL with paternally expressed inheritance mode. Four of QTLs in the loin eye area (LEA), and tenth rip backfat thickness (TRF), a maternally expressed QTL were found on chromosome 10 and 12. These results support the useful statistical models to analyse the imprinting far the QTLs related carcass trait.

• Asian-Australasian Journal of Animal Sciences
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• v.33 no.10
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• pp.1558-1565
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• 2020

Objective: The objective of this study was to characterize the number of loci affecting growth traits and the distribution of single nucleotide polymorphism (SNP) effects on growth traits, and to understand the genetic architecture for growth traits in Hanwoo (Korean cattle) using genome-wide association study (GWAS), genomic partitioning, and hierarchical Bayesian mixture models. Methods: GWAS: A single-marker regression-based mixed model was used to test the association between SNPs and causal variants. A genotype relationship matrix was fitted as a random effect in this linear mixed model to correct the genetic structure of a sire family. Genomic restricted maximum likelihood and BayesR: A priori information included setting the fixed additive genetic variance to a pre-specified value; the first mixture component was set to zero, the second to 0.0001×σ²_g, the third 0.001×σ²_g, and the fourth to 0.01×σ²_g. BayesR fixed a priori information was not more than 1% of the genetic variance for each of the SNPs affecting the mixed distribution. Results: The GWAS revealed common genomic regions of 2 Mb on bovine chromosome 14 (BTA14) and 3 had a moderate effect that may contain causal variants for body weight at 6, 12, 18, and 24 months. This genomic region explained approximately 10% of the variance against total additive genetic variance and body weight heritability at 12, 18, and 24 months. BayesR identified the exact genomic region containing causal SNPs on BTA14, 3, and 22. However, the genetic variance explained by each chromosome or SNP was estimated to be very small compared to the total additive genetic variance. Causal SNPs for growth trait on BTA14 explained only 0.04% to 0.5% of the genetic variance Conclusion: Segregating mutations have a moderate effect on BTA14, 3, and 19; many other loci with small effects on growth traits at different ages were also identified.

• Journal of Life Science
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• v.26 no.1
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• pp.1-7
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• 2016

Fatness is one of the most important economic traits in pigs. The leptin receptor (LEPR) gene may be a potential candidate for the fatness quantitative trait locus (QTL) on porcine chromosome 6, due to its position and physiological role. Thus, this study was carried out to evaluate the associations between structural variants in the LEPR gene and economic traits in pigs. We obtained an approximately 114-kb sequence containing the complete genomic DNA of the porcine LEPR gene, using shotgun sequencing of a bacterial artificial chromosome clone. We report the complete genomic structure of the porcine LEPR gene. Dozens of transcription factor-binding sites were found in the 1.2 kb upstream region from the transcription start point. An association study was performed with 550 Duroc pigs for 24 single-nucleotide polymorphisms (SNPs), including 6 SNPs within exons and 18 SNPs within the putative 5‘ regulatory region of the porcine LEPR gene. Among them, one SNP (−790C/G) was significantly associated with backfat thickness and lean meat percentage, whereas the others, including two SNPs with missense polymorphisms, had no effect on any phenotype. These results suggest that SNP −790C/G may be a useful marker for genetic improvements of fatness and leanness in Duroc pigs.