• Reproductive and Developmental Biology
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• 제35권3호
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• pp.209-214
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• 2011

Although the function and utility of RNA transcripts derived from matured spermatozoa remains unclear, they might play important roles in the establishment of a paternal genome and subsequently embryo development. Herein, we investigated the expression of X-chromosome linked RNA transcripts in matured bovine spermatozoa. The total RNA was extracted from the matured spermatozoa, and then converted to cDNA. Autosomal genes (ACT-${\beta}$ and H-2A) and X-chromosome linked genes (ANT3, HPRT, MeCP2, RPS4X, XIAP, XIST and ZFX) were analyzed for the characterization of X-chromosome linked RNA transcripts and compared to female fibroblasts by RT-PCR. The transcripts of autosomal genes (ACT-${\beta}$ and H2A) and X-chromosome linked genes (ANT3, HPRT, MeCP2, RPS4X and ZFX) were not detected in spermatozoa. However, XIAP (X-linked inhibitor of apoptosis protein) and XIST (X-chromosome inactive-specific transcript, a kind of paternal imprinted gene) transcripts were detected in spermatozoa, and relative levels of XIAP and XIST transcripts were similar and 0.5-fold lower when compared to female fibroblasts, respectively. Based on the findings, it is summarized that the presence of RNA transcripts of XIAP and XIST in the isolated spermatozoa may imply their role in inhibition of apoptosis and induction of X-chromosome inactivation in embryo development.

• Genomics & Informatics
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• 제3권4호
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• pp.154-158
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• 2005

Germ-line mutations of the BRCA1 gene confer an increased risk for breast and ovarian cancers. BRCA1 in female cells is directly related with the maintenance of the inactive X chromosome (Xi). The effect by the loss of the BRCA1 function on the X chromosome gene expression remains unclear in cancer cells. We attempted to investigate the expression pattern of the X-linked genes by performing BRCA1 knockdown via RNA interference in the MCF7 breast cancer cell line. The transcriptional and translational levels of BRCA1 were decreased over 95% in the MCF7 cells after BRCA1 knockdown. The expression patterns of one hundred ninety X-linked genes were profiled by the X chromosome-specific cDNA arrays. A total of seven percent of the X-linked genes (14/190) were aberrantly expressed by over 2-fold in the MCF7-BRCA1 knockdown cells, which contained two up-regulated genes (2/190, 1 %) and 12 down-regulated genes (12/190, 6.3%). It is interesting that 72% of the aberrantly expressed X-linked genes were located on the Xq (10/14,) region. Our data suggests that BRCA1 may not be important to maintain X chromosome inactivation in cancer because the BRCA1 knockdown did increase the expression of the only one percent of X-linked genes in the human breast cancer cells.

• Reproductive and Developmental Biology
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• 제35권2호
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• pp.175-183
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• 2011

The present study compared the developmental potential, telomerase activity and transcript levels of X-linked genes (ANT3, HPRT, MeCP2, RPS4X, XIAP, XIST and ZFX) in the bovine somatic cell nuclear transfer (SCNT) embryos derived from different age and cell cycle of female donor nucleus. In experiment 1, the fusion rate, cleavage rate to 2-cell stage, developmental rate to blastocyst stage, and the mean number of total and ICM cells was slightly increased in embryos cloned with fetal fibroblasts compared to those with adult fibroblasts, but there was no significantly (p<0.05) differences. Telomerase activity was also similar in blastocysts cloned with fetal and adult fibroblasts. Up-regulated RPS4X and down-regulated MeCP2, XIAP, and XIST transcript level were observed in blastocysts cloned with adult fibroblasts, compared to those with fetal fibroblasts. In experiment 2, the fusion rate, cleavage rate to 2-cell stage, developmental rate to blastocyst stage, and the mean number of total and ICM cells was significantly (p<0.05) increased in embryos cloned with fetal fibroblasts at early G1 phase of the cell cycle, compared to those of fetal fibroblasts at late G1 phase. DNMT1 transcript was observed to significantly (p<0.05) increased in the fetal fibroblasts at 3 hrs after trypsin treatment of confluent culture. Further, level of telomerase activity and transcribed X-linked genes was also significantly (p<0.05) higher in the early G1 SCNT blastocysts than those of late G1. The results imply that fetal fibroblasts at early G1 phase induces the enhanced developmental potential and up-regulated telomerase activity and X-linked gene, but aberrant transcript pattern of X-linked genes may be displayed in the SCNT embryos.

• 한국환경과학회지
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• 제4권5호
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• pp.157-157
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• 1995

In order to analyze the sex-linked lethal mutagenic effects of ethyl methanesulfonate (EMS) in Drosophila melanogaster, the mutagenicities from the attached-X and Basc method have been detected. The indexes of relative lethal mutations at 2.0 and 4.0mM EMS treated group using the attached-X method were about 1.5 and 2.4 times than that of 1.0mM treated group, respectively. EMS had more pronounced effect in the sperm and spermatid stages in the induction of X-linked lethal mutations during the spermatogenesis. And, in the induction of X-linked recessive lethal mutations from the Basc method, the mutation frequency of 4.0mM EMS treated group as compared with 2.0mM was more than three fold. Two assay systems used in this study can support mutually according to experimental purposes, and the area of its application can be considerably wide.

• 한국환경과학회지
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• 제4권5호
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• pp.543-549
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• 1995

In order to analyze the sex-linked lethal mutagenic effects of ethyl methanesulfonate (EMS) in Drosophila melanogaster, the mutagenicities from the attached-X and Basc method have been detected. The indexes of relative lethal mutations at 2.0 and 4.0mM EMS treated group using the attached-X method were about 1.5 and 2.4 times than that of 1.0mM treated group, respectively. EMS had more pronounced effect in the sperm and spermatid stages in the induction of X-linked lethal mutations during the spermatogenesis. And, in the induction of X-linked recessive lethal mutations from the Basc method, the mutation frequency of 4.0mM EMS treated group as compared with 2.0mM was more than three fold. Two assay systems used in this study can support mutually according to experimental purposes, and the area of its application can be considerably wide.

• 충청수학회지
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• 제24권3호
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• pp.601-607
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• 2011

Let D be an integral domain, X be an indeterminate over D, and D[X] be the polynomial ring over D. We show that D is an almost weakly factorial PvMD if and only if D + XDS[X] is an integrally closed almost GCD-domain for each (saturated) multiplicative subset S of D, if and only if $D+XD_1[X]$ is an integrally closed almost GCD-domain for any t-linked overring $D_1$ of D, if and only if $D_1+XD_2[X]$ is an integrally closed almost GCD-domain for all t-linked overrings $D_1{\subseteq}D_2$ of D.

• Genomics & Informatics
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• 제9권2호
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• pp.64-68
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• 2011

Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought to identify a genetic basis for MA. Given the predominance of MA in males, we focused on candidate neurological disease genes located on the X chromosome, selecting two X-linked candidate genes, androgen receptor (AR ) and ubiquitin-like modifier activating enzyme 1 (UBA1). Screening for genetic variants using patients' genomic DNA revealed three known genetic variants in the coding region of the AR gene: one nonsynonymous single-nucleotide polymorphism (SNP; rs78686797) encoding Leu57Gln, and two variants of polymorphic trinucleotide repeat segments that encode polyglutamine (CAG repeat; rs5902610) and polyglycine (GGC repeat; rs3138869) tracts. Notably, the Leu57Gln polymorphism was found in two patients with MA from 24 MA patients, whereas no variants were found in 142 healthy male controls. However, the numbers of CAG and GGC repeats in the AR gene were within the normal range. These data suggest that the Leu57Gln polymorphism encoded by the X-linked AR gene may contribute to the development of MA.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.24-27
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• 2018

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

• Journal of Animal Science and Technology
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• 제63권5호
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• pp.977-983
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• 2021

Closely correlated expression patterns between ubiquitin specific peptidase 9X-linked (USP9X) and adherens junction formation factor (Afadin) in mouse testis development suggests that Usp9x regulates the deubiquitination of Af-6 (also known as Afadin, AFDN), and subsequently, the cell adhesion dynamics during gametogenesis. However, this relationship has not yet been tested in other domestic animals. The study was examined the temporal and spatial expression patterns of porcine USP9X and AFDN from the pre-pubertal to adult stages using real time-PCR and immunohistochemistry. Furthermore, we detected the transcripts of USP9X and AFDN in the testis of 1-, 6- and 12-months old boar, respectively. USP9X and AFDN were found to have similar expressions patterns, with basal expression after 1 month followed by a significant up-regulation from 6 months (puberty) onwards. In addition, neither the AFDN or USP9X proteins were detected in spermatogenic cells but they were expressed in the leydig cells and sertoli cells. USP9X was detected around the basal lamina during pre-puberty, and predominantly expressed in the leydig cells at puberty. Finally, in adult testis, USP9X was increased at the sertoli cell-cell interface and the sertoli cell-spermatid interface. In summary, closely correlated expression patterns between USP9X and AFDN in boar testis supports the previous findings in mice. Furthermore, the junction connections between the sertoli cells may be regulated by the ubiquitination process mediated via USP9X.

• Applied Biological Chemistry
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• 제49권1호
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• pp.49-54
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• 2006

쌀 전분에 phosphorus oxychloride$(POCl_3)$를 단계별(전분 고형분 대비 $0.005{\sim}0.06%$)로 2시간 반응시켜 가교화 쌀 전분을 제조하고, 변성된 쌀 전분의 용해도, 팽윤력, RVA, DSC, X-ray 특성을 연구하였다. 팽윤력은 일반 쌀 전분 보다 다소 낮은 온도에서 증가되기 시작하였으나 그 이후는 모두 낮은 수치를 보여 가교화 쌀 전분이 일반 쌀 전분보다 완만한 상승을 나타내었다. 용해도는 가교화 쌀 전분이 일반 쌀 전분보다 전체적으로 낮은 결과를 나타내었고 $POCl_3$ 함량에 따른 유의적인 차이는 보이지 않았다. RVA 분석결과 가교화 쌀 전분이 일반 쌀전분보다 pasting temperature와 최고점도는 낮아졌고 holding strength와 final viscosity는 높은 경향을 나타내어 breakdown과 setback 은 낮은 것으로 나타났다. DSC 분석 결과 가교화 쌀 전분이 일반 쌀 전분보다 $T_o$, $T_p$, $T_c$가 감소하였으나 ${\Delta}H$의 경우 큰 차이가 나타나지 않았다. X-ray 회절분석 결과 일반 쌀 전분 보다 $POCl_3$ 함량에 따라 상대적 결정화도가 소폭 감소되는 결과를 나타내었으나 95% 신뢰도 수준에서 유의적인 차이는 없는 것으로 나타났다. 따라서 가교화 쌀 전분의 경우 전분입자가 $POCl_3$ 의해 강한 공유 결합을 형성함으로써 내열성, 내전단성의 성질이 생겨 호화가 일어난 후에 점도가 많이 낮아지지 않은 것으로 판단되며 전분의 결정형태에는 크게 영향을 미치지 않으나 전분의 무정형 부분에 영향을 주어 쌀 전분의 팽윤력, 용해도 및 pasting property등의 물리화학적 성질에 변화를 주는 것으로 판단되었다.