• Asian-Australasian Journal of Animal Sciences
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• v.33 no.9
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• pp.1378-1386
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• 2020

Objective: Chinese indigenous sheep breeds can be classified into the following three categories by their tail morphology: fat-tailed, fat-rumped and thin-tailed sheep. The typical sheep breeds corresponding to fat-tailed, fat-rumped, and thin-tailed sheep are large-tailed Han, Altay, and Tibetan sheep, respectively. Detection of copy number variation (CNV) and selection signatures provides information on the genetic mechanisms underlying the phenotypic differences of the different sheep types. Methods: In this study, PennCNV software and F-statistics (F_ST) were implemented to detect CNV and selection signatures, respectively, on the X chromosome in three Chinese indigenous sheep breeds using ovine high-density 600K single nucleotide polymorphism arrays. Results: In large-tailed Han, Altay, and Tibetan sheep, respectively, a total of six, four and 22 CNV regions (CNVRs) with lengths of 1.23, 0.93, and 7.02 Mb were identified on the X chromosome. In addition, 49, 34, and 55 candidate selection regions with respective lengths of 27.49, 16.47, and 25.42 Mb were identified in large-tailed Han, Altay, and Tibetan sheep, respectively. The bioinformatics analysis results indicated several genes in these regions were associated with fat, including dehydrogenase/reductase X-linked, calcium voltage-gated channel subunit alpha1 F, and patatin like phospholipase domain containing 4. In addition, three other genes were identified from this analysis: the family with sequence similarity 58 member A gene was associated with energy metabolism, the serine/arginine-rich protein specific kinase 3 gene was associated with skeletal muscle development, and the interleukin 2 receptor subunit gamma gene was associated with the immune system. Conclusion: The results of this study indicated CNVRs and selection regions on the X chromosome of Chinese indigenous sheep contained several genes associated with various heritable traits.

• Clinical and Experimental Pediatrics
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• v.54 no.6
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• pp.267-271
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• 2011

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

• Journal of Plant Biotechnology
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• v.30 no.1
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• pp.7-11
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• 2003

Karyotype analysis and chromosomal localization of 5S and 45S rDNAs using FISH (fluorescence in situ hybridization) technique were carried out in Nicotiana plumbaginifolia. Somatic chromosome number of N. plumbaginifolia was 2n=20 and kyarotype was composed of three pairs of metacentric chromosomes (1,2 and 7) and seven pairs of submetacentric chromosomes (3, 4, 5, 6, 8, 9 and 10). Length of chromosomes was ranged from 2.29 to 4.50 ${\mu}{\textrm}{m}$. Chromosome 1 and 2 were identified as satellite chromosomes. In FISH experiment, one pair of 5S rDNA signals was detected on the centromeric region of chromosome 2 and one pair of 45S rDNA signals was detected on the terminal region of chromosome 1.

• Proceedings of the Korean Society of Crop Science Conference
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• 1999.05a
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• pp.162-163
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• 1999

The goal of this research was (1) to describe the conditions and parameters required for the cell cycle synchronization and the accumulation of large number of metaphase cells in maize and other cereal root tips, (2) to isolate intact metaphase chromosomes from root tips suitable for characterization by flow cytometry, and (3) to construct chromosome-specific libraries from maize. Plant metaphase chromosomes have been successfully synchronized and isolated from many cereal root-tips. DNA synthesis inhibitor (hydroxyurea) was used to synchronize cell cycle, follwed by treatement with trifluralin to accumulate metaphase chromosomes. Maize flow karyotypes show substantial variation among inbred lines. thish variation should be sueful in isolating individual chromosome types. In addition, flow cytometry is a useful method to measure DNA content of individual chromosomes in a genotyps, and to detect chromosomal variations. Individual chromosome peaks have been sorted from the maize hybrid B73/Mol7. Libraries were generated form the DOP-PCR amplification product from each peak. To date, we have analyzed clones from a library constructed from the maize chromosome 1 peak. Hybridization of labeled genomic DNA to clone inserts indicated that $24\%,\;18\%,\;and\;58\%$ of the clones were highly repetitive, medium repetitive, and low copy, respectively. Fifty percent of putative low cpoy clones showed single bands on inbred screening, blots, and the remaining $50\%$ were low copy repeats. Single copy clones showing polymorphism will be mapped using recombinant inbred mapping populations. Repetitive clones are being characterized by Southern blot analysis, and will be screened by in situ hybridization for their potential utility as chromosome specific markers.

• Korean Journal of Breeding Science
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• v.40 no.2
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• pp.119-127
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• 2008

A total of 41 microsatellite markers were used with 29 genotypes to examine the relationship between SSR polymorphisms and N-use efficiency related traits with a goal to identify the putative QTLs related to these traits. These primers yielded a total of 183 alleles (average 4.46 alleles per primer), and polymorphism information content (PIC) values of the SSRs ranged from 0.119 to 0.805 with mean value of 0.425. Correlation coefficients were obtained among the four N-use efficiency traits in the 34 accessions and significant positive correlations of relative ratios between grain yield and harvest index (r=0.3404) and total dry matter (r=0.7976), while N uptake showed a moderate level of correlation with the ratios of the grain yield and total dry matter, respectively. 36.5% (15/41) SSR markers were monomorphic among the 25 japonica accessions out of the 29 accessions. Association between SSR genotypes and phenotypic performances from the total (29) or japonica (25) accessions was tested based on a single point analysis. Three putative QTL regions were detected for the ratio of grain yield. These include the chromosomal region containing the RM283 locus on chromosome 1 and RM25 on chromosome 8 (all and japonica accessions) and the region with the SSR marker, RM206 on chromosome 11 (the japonica accessions). For the total dry matter ratio, two chromosomal regions were identified as the putative QTL region. One is the region with the SSR marker, RM162 on chromosome 6 (all and japonica accessions) and the other was the one with the SSR marker RM25 on chromosome 8 (the japonica accessions). Among these markers, RM25 showed associations with both traits.

• Proceedings of the KOSOMBE Conference
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• v.1998 no.11
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• pp.66-69
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• 1998

Comparative genomic hybridization (CGH) is an important molecular cytogenetics technique that maps abnormal copy number of specific DNA sequence of the chromosome. CGH is based on quantitative digital image analysis of ratio images from fluorescently labeled chromosomes. In this paper, we would like to introduce how recently developed image analysis algorithms are used for CGH techniques. To average the ratio profile of each chromosome, binarization, skeletonization, and stretching of chromosome images have been studied. Developed algorithms have been implemented in the karyotyping system ChIPS commercially developed at Biomedlab Co. Ltd.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.2
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• pp.155-160
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• 2008

Several studies have reported quantitative trait loci (QTL) for meat quality on porcine chromosome 2 (http://www.animalgenome.org/QTLdb/pig.html). For application of the molecular genetic information to the pig industry through marker-assisted selection, single nucleotide polymorphism (SNP) markers were analyzed by comparative re-sequencing of polymerase chain reaction (PCR) products of 13 candidate genes with DNA from commercial pig breeds such as Berkshire, Yorkshire, Landrace, Duroc and Korean Native pig. A total of 34 SNPs were identified in 15 PCR products producing an average of one SNP in every 253 bp. PCR restriction fragment length polymorphism (RFLP) assays were developed for 11 SNPs and used to investigate allele frequencies in five commercial pig breeds in Korea. Eight of the SNPs appear to be fixed in at least one of the five pig breeds, which indicates that different selection among pig breeds might be applied to these SNPs. Polymorphisms detected in the PTH, CSF2 and FOLR genes were chosen to genotype a Berkshire-Yorkshire pig breed reference family for linkage and association analyses. Using linkage analysis, PTH and CSF2 loci were mapped to pig chromosome 2, while FOLR was mapped to pig chromosome 9. Association analyses between SNPs in the PTH, CSF2 and FOLR suggested that the CSF2 MboII polymorphism was significantly associated with several pork quality traits in the Berkshire and Yorkshire crossed F2 pigs. Our current findings provide useful SNP marker information to fine map QTL regions on pig chromosome 2 and to clarify the relevance of SNP and quantitative traits in commercial pig populations.

• Korean Journal of Head & Neck Oncology
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• v.14 no.1
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• pp.20-26
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• 1998

Objectives: Deletion in the short arm of chromosome 3 is common in many human cancers, including sporadic and hereditary renal carcinomas, small cell lung carcinomas, non-small cell lung carcinomas, and carcinomas of the ovary, breast, and cervix. A high frequency of chromosomal aberrations in head and neck cancers involving chromosome 3p has also been reported. These findings suggest that multiple tumor suppressor genes may be present on the short arm of chromosome 3. Materials and Methods: To investigate the possibility of chromosome 3p deletions in the Korean head and neck cancer patients, we applied a polymerase chain reaction(PCR)-based Restriction Fragment Length Polymorphism analysis to the DNA samples of matched normal mucosa and head and neck squamous cell carcinomas from 19 patients. Results: In the 19 normal samples heterozygosity at the polymorphic loci varied: 6 at the D3F15S2 locus(on telomeric 3p21), 2 at the D3S32 locus(on centromeric 3p21), and 4 at the THRB locus(on centromeric 3p24). In 12 matched carcinoma specimens, LOH(loss of heterozygosity) was observed at D3F15S2 in 1 of 6(17%), D3S32 in 1 of 2(50%), and at THRB in 2 of 4 cases(50%). Conclusion: The frequency of chromosome 3p deletion in the Korean head and neck carcinomas appear as other country did.

• Journal of Life Science
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• v.20 no.5
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• pp.789-793
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• 2010

Artificial chromosome manipulation and amplification of single-copy yeast artificial chromosome (YAC) are usually required in order to use YACs for applications such as physical mapping and functional analysis in eukaryotes. We designed and implemented a Simultaneous YAC Manipulation-Amplification (SYMA) system that combines the copy number amplification system of YAC with a convenient YAC manipulation system. To achieve the desired split and to amplify a YAC clone-harboring plant chromosome, a pBGTK plasmid containing a conditional centromere and thymidine kinase (TK) gene was constructed as a template to amplify the splitting fragment via PCR. By splitting, new 490-kb and 100-kb split YACs containing the elements for copy number amplification were simultaneously generated from a 590-kb YAC clone. The 100-kb split YAC was then successfully amplified 14.4-fold by adding 3 mg/ml sulfanilamide and $50\;{\mu}g/ml$ methotrexate (S3/M50) as inducing substances.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.279-279
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• 2022

Rice is 34% of the world's population used as a staple food. But the world population is increasing. Food security is not well protected. Improving cultivar development can address food security. Quantitative trait locus (QTL) mapping is a statistical analysis using both phenotypic and genotypic dates. The purpose of QTL mapping is to determine a gene. Increasing grain size is a way to increase yield in rice. Grain size-related genes were mapped using CNDH population obtained by cross-breeding Cheongcheong (Indica) and Nagdong (Japonica) through anther culture. Grain harvested from experimental field of Kyungpook National University in Gunwi in 2021. Genes related to grain length were detected between RM5964-RM12285, RM20924-RM20967 in chromosome 1, 7. LOD score is 5.88 and 5.6. Genes related to grain width was detected between RM289-RM18130 in chromosome 5. LOD score is 4.57. Genes related to grain length/width ratio were detected between RM5459-RM3482, RM5699-RM1211 and RM3838-RM3381 in chromosome 1, 2, 5. LOD score is 3.75, 3.14 and 3.41. 4 genes was detected in chromosome 1 and 2 genes was detected in chromosome 2 and 7 genes was detected in chromosome 5. 2 genes related to grain shape and quality were detected. 4 genes related to grain length were detected. 4 genes related to grain size were detected. 1 gene related to grain size and weight was detected. 2 genes related to grain length and weight were detected. By finding the gene related to grain size, it provides food to people threatened by food security and solves the food shortage.