• 한국환경과학회지
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• 제7권5호
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• pp.599-605
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• 1998

The purpose of this work was to examine whether X-Y chromosome dissociation in the primary spermatocytes of mice could be used as an in vivo short-term assaying system that detect environmental mutagens. Four alkylating agents(EMS, MMS, MMC and MNNG) which were known as strong mutagens were administered to BALB/c male mice 3-4 months old. In the control group, the mean frequencies of previously dissociated X and Y chromosomes and autosomes were 7.17% and 2.12%, respectively. Compared to the control group, mutagen-treated groups have no significant differences in dissociation rate of autosomes, while these poops were about 1.2-2.5 times higher in the frequencies of X-Y dissociation. Generally, X-Y dissociation frequency increased consistently with the concentration of mutagens whereas the tendency of autosome dissociation frequency was variable among several mutagens. These results suggest that X-Y dissociation in the primary spermatocytes of mice is applicable as an vivo short-term assaying system for environmental mutagens. There were significantly distinct increase in dissociation of X-Y chromosome in both the hybrid and parents but the X-Y previous dissociation of hybrid appeared higher frequency than BALB /c and wild mice. These results indicate that the factor related to binding X-Y chromosome is specific to strains.

• 한국동물학회지
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• 제33권2호
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• pp.222-230
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• 1990

한국산 청서(Sciunis vulgaris corea)와 다람쥐(Tamias sibiricus asiaticu)의 핵형을 일반 Giemsa- stain과 C-banding stain방법으로 분석하였다. 청서의 염색체 수는 2n=40이였으며 이 중 6쌍은 중부, 8쌍은 차중부, 3쌍은 차단부 그리고 2쌍은 단부 염색체이었고 X 염색체는 차중부,Y염색체는 acro또는 차단부 염색체로서 NF(arm number)=72(성염색체 제외)를 나타내었다. 다람쥐의 염색체 수는 2n=38이었으며 이 중 3쌍은 중부, 4쌍은 차중부, 5쌍은 차단부, 그리고 6쌍은 단부 염색체이었고 X염색체는 차중부, Y염색체는 중부염색체로서 NF=60을 나타내었다. C-banding분석결과, 청서의 염색체에서는 각 경우 대부분 동원체 (centromere)부위와 말단부(telomere)에 주로 구조적이질염색질이 분포하였고 다람쥐에서는 몇몇 염색체상(제2,3,9번)을 제외하고는 주로 동원체 부위에 구조적이직염색질이 분포하였다. 이러한 결과들로 보아 핵형상의 분화에 non-Robensonian 재배열과 구조적 이질염색질의 분포가 중요한 작용을 한 것으로 생각된다.

• 한국동물학회지
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• 제19권4호
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• pp.179-186
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• 1976

DNA 回復合成과 染色體交換과의 聯關性을 추구하기 위해 알킬화제 突然變異誘發原인 MMC, MNNG, MMS를 培養한 사람의 淋巴球와 HeLa $S_3$ 細胞에 處理하여 다음과 같은 結果를 얻었다. 1. 이들 알킬화제에 의해 誘發된 DNA 回復合成은 MMC, MNNG, MMS의 濃度가 각각 $3 \\times 10^-7, 1 \\times 10^-6, 5 \\times 10^-4 M$에서 檢出되었다. 이는 MMC가 가장 强力한 DNA 回復合成 誘發原이며 다음이 MNNG 그 다음이 MMS임을 뜻한다. MMC와 MNNG는 濃度增加에 따른 DNA 回復合成에 큰 차이를 보이지 않으나 MMS는 현저한 增加를 보인다. 2. MMC에 의한 染色體異常은 濃度가 增加함에 따라 그 率에 현저한 增加를 보이나 染色體交換率에는 별차이가 없다. 그러나 MNNG는 染色體異常率에 차가 없고 染色體交換은 觀察되지 않았다. MMS는 染色體異常 및 染色體交換 모두 濃度의 增加에 따른 그 率의 增加를 나타낸다. 이러한 結果는 突然變異誘發原에 의한 DNA 回復合成이 染色體交換 및 染色體異常과 직접적인 연관성이 없음을 시사하는 것이다.

• Animal Bioscience
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• 제36권2호
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• pp.191-199
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• 2023

Objective: This study aimed to investigate the significant single nucleotide polymorphisms (SNPs) and genes associated with nine reproduction and morphological traits in three breed populations of Chinese goats. Methods: The genome-wide association of nine reproduction and morphological traits (litter size, nipple number, wattle, skin color, coat color, black dorsal line, beard, beard length, and hind leg hair) were analyzed in three Chinese native goat breeds (n = 336) using an Illumina Goat SNP50 Beadchip. Results: A total of 17 genome-wide or chromosome-wide significant SNPs associated with one reproduction trait (litter size) and six morphological traits (wattle, coat color, black dorsal line, beard, beard length, and hind leg hair) were identified in three Chinese native goat breeds, and the candidate genes were annotated. The significant SNPs and corresponding putative candidate genes for each trait are as follows: two SNPs located on chromosomes 6 (CSN3) and 24 (TCF4) for litter size trait; two SNPs located on chromosome 9 (KATNA1) and 1 (UBASH3A) for wattle trait; three SNPs located on chromosome 26 (SORCS3), 24 (DYM), and 20 (PDE4D) for coat color trait; two SNPs located on chromosome 18 (TCF25) and 15 (CLMP) for black dorsal line trait; four SNPs located on chromosome 8, 2 (PAX3), 5 (PIK3C2G), and 28 (PLA2G12B and OIT3) for beard trait; one SNP located on chromosome 18 (KCNG4) for beard length trait; three SNPs located on chromosome 17 (GLRB and GRIA2), 28 (PGBD5), and 4 for hind leg hair trait. In contrast, there were no SNPs identified for nipple number and skin color. Conclusion: The significant SNPs or genes identified in this study provided novel insights into the genetic mechanism underlying important reproduction and morphological traits of three local goat breeds in Southern China as well as further potential applications for breeding goats.

• Asian-Australasian Journal of Animal Sciences
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• 제31권3호
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• pp.449-456
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• 2018

Objective: Nanog, a homeodomain protein, has been investigated in humans and mice using embryonic stem cells (ESCs). Because of the limited availability of ESCs, few studies have reported the function and role of Nanog in porcine ESCs. Therefore, in this study, we investigated the location of the porcine Nanog chromosome and its basal promoter activity, which might have potential applications in development of ESCs specific marker as well as understanding its operating systems in the porcine. Methods: To characterize the porcine Nanog promoter, the 5'-flanking region of Nanog was isolated from cells of mini-pig ears. BLAST database search showed that there are two porcine Nanog genomic loci, chromosome 1 and 5, both of which contain an exon with a start codon. Deletion mutants from the 5'-flanking region of both loci were measured using the Dual-Luciferase Reporter Assay System, and a fluorescence marker, green fluorescence protein. Results: Promoter activity was detected in the sequences of chromosome 5, but not in those of chromosome 1. We identified the sequences from -99 to +194 that possessed promoter activity and contained transcription factor binding sites from deletion fragment analysis. Among the transcription factor binding sites, a Sp1 was found to play a crucial role in basal promoter activity, and point mutation of this site abolished its activity, confirming its role in promoter activity. Furthermore, gel shift analysis and chromatin immunoprecipitation analysis confirmed that Sp1 transcription factor binds to the Sp1 binding site in the porcine Nanog promoter. Taken together, these results show that Sp1 transcription factor is an essential element for porcine Nanog basal activity the same as in human and mouse. Conclusion: We showed that the porcine Nanog gene is located on porcine chromosome 5 and its basal transcriptional activity is controlled by Sp1 transcription factor.

• Animal Bioscience
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• 제35권9호
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• pp.1289-1302
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• 2022

The next generation sequencing has significantly contributed to clarify the genome structure of many species of zootechnical interest. However, to date, some portions of the genome, especially those linked to a heterogametic nature such as the Y chromosome, are difficult to assemble and many gaps are still present. It is well known that the fluorescence in situ hybridization (FISH) is an excellent tool for identifying genes unequivocably mapped on chromosomes. Therefore, FISH can contribute to the localization of unplaced genome sequences, as well as to correct assembly errors generated by comparative bioinformatics. To this end, it is necessary to have starting points; therefore, in this study, we reviewed the physically mapped genes on the Y chromosome of cattle, buffalo, sheep, goats, pigs, horses and alpacas. A total of 208 loci were currently mapped by FISH. 89 were located in the male-specific region of the Y chromosome (MSY) and 119 were identified in the pseudoautosomal region (PAR). The loci reported in MSY and PAR were respectively: 18 and 25 in Bos taurus, 5 and 7 in Bubalus bubalis, 5 and 24 in Ovis aries, 5 and 19 in Capra hircus, 10 and 16 in Sus scrofa, 46 and 18 in Equus caballus. While in Vicugna pacos only 10 loci are reported in the PAR region. The correct knowledge and assembly of all genome sequences, including those of genes mapped on the Y chromosome, will help to elucidate their biological processes, as well as to discover and exploit potentially epistasis effects useful for selection breeding programs.

• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.333-336
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• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

• 한국가금학회지
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• 제46권4호
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• pp.287-296
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• 2019

Avian sex determination system involves the male ZZ and female ZW chromosomes. However, very few studies are reported the expression, functional role and importance of genes on the W chromosome because of its small and highly heterochromatic genomic regions. Recent studies demonstrated that the W chromosome may have critical roles in physiology, sex determination and subsequent sexual differentiation in chickens. Therefore, gene annotation, including describing the expression and function of genes in the chicken W chromosome, is needed. In this study, we have searched the W chromosome of chickens and selected a total of 36 genes to evaluated their specific expression in the testis and ovary at various developmental stages such as embryonic day 6 (E6), hatch and adult. Interestingly, out of 36 genes in chicken W chromosome, we have found seven female-specific expression at E6.5 day, indicating that they are functionally related to female chicken gonadal differentiation. In addition, we have identified the stage specific gene expression from the sex specific genes. Furthermore, we analyzed the relative location of genes in the chicken W chromosome. Collectively, these results will contribute molecular insights into the sexual determination, differentiation and female development based on the W chromosome.

• 한국버섯학회지
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• 제12권1호
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• pp.63-66
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• 2014

한국에서 개발된 팽이버섯 균주 Fv 3-6과 일본에서 수집한 팽이버섯 균주 Fv 0-1, Fv 1-5 및 Fv 11-4의 핵형을 CHEF gel electrophoresis 방법으로 분석 하였다. 그 결과 4종류의 균주 모두 chromosome의 전체 길이가 달랐으며, chromosome의 개수 또는 특정 chromosome의 길이가 다른 것을 확인하였다. 특히 Fv 3-6의 경우에는 다른 3 종의 균주와 비교했을 때 Fv 0-1, Fv 11-4 보다는 2개의 chromosome이 더 존재하였고 Fv 1-5 보다는 1개의 chromosome이 더 존재하였으며 핵형패턴이 유사한 일본 수집 균주들과는 다른 핵형패턴을 나타내었다. 이러한 CHEF gel electrophoresis 방법은 품종간의 차이를 SSR이나 ITS 정보를 이용한 방법보다 더 정확하게 구분할 수 있을 것이라고 생각한다.

• 한국균학회지
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• 제17권2호
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• pp.76-81
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• 1989

Fusarium oxysporum은 하나의 종내에 많은 formae speciales(분화종)과 races 등이 분화되어 있다. 그 중에서 10균주에 대하여 균사 내에서의 영양핵의 분열상을 찾아 Giemsa staining 용액으로 염색하여 그들의 염색체 수를 비교 관찰하였다. 균주에 따라 염색체 수에 차이가 있었으며 2균주(F. oxysporum f. sp. lycoperici, F. oxysporum Kangnung D2)는 n=4, 2균주(F. oxysporum S Sachun 3, F. oxysporum S Kohung 2)는 n=5, 5균주(F. oxysporum S Kohung 3, F. oxysporum CS Hongchun D16, F. oxysporum S Bosung 5, F. oxysporum S Sunchun 4, F. oxysporum S Haenam 4)는 n= 7개를 관찰할 수 있었고 Australia의 Sydney 대학에서 분양받은 F. oxysporum 14-39는 n=8개로 전체로 보아 4-8개의 염색체를 관찰할 수 있었다. 본인의 앞서 본문의 결과와 종합하여 고찰할 때 F. oxysporum의 기본염색체 수는 반수체가 4개로 추론되며 여기에서부터 여러가지 요인으로 인하여 diploidy, aneuploidy가 되어 다양한 염색체 수를 가진 것으로 사료된다.