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Construction of spDbp5 Null Mutants Defective in mRNA Export (분열효모에서 spDbp5 유전자의 결실돌연변이 제조와 기능에 대한 연구)

  • Bae, Jin-Ah;Cho, Hyun-Jin;Yoon, Jin-Ho
    • Korean Journal of Microbiology
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    • v.44 no.1
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    • pp.80-84
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    • 2008
  • We constructed the null mutants of fission yeast Schizosaccharomyces pombe spDbp5 gene that is homologous to DEAD-box RNA helicase DBP5 in budding yeast Saccharomyces cerevisiae, which plays important roles in mRNA export out of nucleus. A null mutant in an $h^+/h^+$ diploid strain was constructed by replacing the spDbp5-coding region with an $ura4^+$ gene using one-step gene disruption method. Tetrad analysis showed that the spDbp5 is essential for vegetative growth. The haploid spDbp5 null mutants harboring pREP81X-spDbp5 plasmid showed extensive $poly(A)^+$ RNA accumulation in the nucleus and decrease in the cytoplasm after repression of spDbp5 expression. These results suggest that spDbp5 is also involved in mRNA export from the nucleus.

Genetic Analysis of Fission Yeast rsm1 Which is Involved in mRNA Export (분열효모에서 mRNA Export와 관련된 rgm1 유전자의 유전학적 분석)

  • Kang, Su-Ky;Yoon, Jin-Ho
    • Korean Journal of Microbiology
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    • v.44 no.2
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    • pp.98-104
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    • 2008
  • We constructed the null mutants of fission yeast Schizosaccharomyces pombe rsml gene that is thought to be involved in mRNA export. Though rsm1 gene is not essential for growth, the null mutant strain constructed by replacing the rsm1-coding region with an $kan^{r}$ gene showed growth retardation and mRNA export defects compared to wild type strain. We constructed double mutants which harbor rsm1 null allele and mutant allele of genes involved in mRNA export. The mex67 or npp106 null allele, when combined with rsm1 null allele, showed an additive effect on growth retardation and mRNA export defects. On the other hand, the thp1 null allele restored the defects of growth and mRNA export of rsm1 null mutant. These results suggest that rsm1 plays a role in mRNA export from the nucleus.

Control of Genes in TCA Cycle by fsrA Small RNA in Bacillus subtilis (바실러스 서브틸리스의 fsrA small RNA에 의한 TCA 회로의 유전자 조절)

  • Lee, Sang-Soo
    • The Journal of Natural Sciences
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    • v.19 no.1
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    • pp.57-64
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    • 2008
  • The fsrA gene in Bacillus subtilis has an analogous role of ryhB in E. coli and is controlled under fur, the iron regulator gene. At high concentration of iron the transcription of ryhB is repressed by fur and ryhB is transcribed under low concentration of iron. To spare iron produced ryhB small RNA represses the expression of sdhCDAB (succinate dehydrogenase). This study shows the growth rate of Bacillus subtilis strain of fur and fur/fsrA deletion mutants using organic acids of TCA cycle as carbon source. Mutant strain of fur does not grow well with succinate carbon source, but further deletion of fsrA regain to the growth of wild type strain. Also, nearly same results were observed with citrate and fumarate. These results are consistent to those of E. coli system. But fur and fur/fsrA deletion mutants grow well as much as the growth of wild type with malate carbon source. These results showed that upstream genes of succinate of TCA cycle are repressed by fsrA, but downstream of succinate are not repressed by fsrA.

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14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure

  • Cheon, Chong-Kun;Park, Sang-Jin;Choi, Ook-Hwan
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.62-66
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    • 2011
  • Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we identified a young girl with 0.3 Mb terminal 14q32.33 deletion. Review of the nine cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. The phenotype of our patient is much less severe than the phenotypes of the patients reported previously. We report our experience in examining the clinical, behavioral, and cognitive findings in a 5-year-old girl studied with chromosomal microarray hybridization and reviewed previously reported patients with 14q32 deletions.

Characteristics of Flowering Habit, Pollination Patterns and Seed Setting of Hosta plantaginea Aschers (옥잠화(Hosta plantaginea Aschers.)의 개화습성, 수분양식 및 결실특성)

  • Cho Kyoo Won;Tae Kyoung-Hwan;Sung Soon-Kee
    • Korean Journal of Plant Resources
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    • v.18 no.2
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    • pp.309-314
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    • 2005
  • This study was carried out to obtain the basic informations on the flowering habit, pollination patterns and seed setting in Hosta plantaginea Aschers. Flowers came out in the night with white color. Almost fertilization seemed to be out by wind in early and full flowering. But bearing pods by insects and fertilization rate by wind were increased by interval of flowering and particular scent slowly decreased in after flowering. Bearing pods and seeds setting rate were $65.0\%,\;40.9\%$ per peduncle after artificial pollination, and also $33.3\%,\;24.3\%$ in natural pollination, respectively. The flowering times was all around seven to eight o'clock at night and optimum temperature for pollination was $25{\sim}28^{\circ}C$.

Effects of spNab2 Deletion and Over-Expression on mRNA Export (분열효모에서 spNab2 유전자의 결실돌연변이 및 과발현에 대한 분석)

  • Yoon, Jin-Ho
    • Korean Journal of Microbiology
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    • v.45 no.4
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    • pp.300-305
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    • 2009
  • We constructed the deletion mutants of fission yeast Schizosaccharomyces pombe spNab2 gene that is homologous to poly(A)-binding protein NAB2 in budding yeast Saccharomyces cerevisiae, which plays crucial roles in mRNA 3' end formation and mRNA export from nucleus into the cytoplasm. A null mutant in an $h^+$/ $h^+$ diploid strain was constructed by replacing the spNab2-coding region with an $ura4^+$ gene using one-step gene disruption method. Tetrad analysis showed that the spNab2 is not essential for vegetative growth and mRNA export. However, over-expression of spNab2 cause the severe growth defects and intensive accumulation of poly(A) RNA in the nucleus. Also, the spNab2-GFP fusions were localized mainly in the nucleus. These results suggest that spNab2 is also involved in mRNA export out of the nucleus.

Establishment of The Optimal Harvest Limit Time for Wild Vegetable Seed Production (산채류 채종을 위한 적정 생채 수확 한계기 설정)

  • Song Hee Ahn;Jung-Seob Moon;Gue-Saeng Yeom;Dong-Chun Cheong
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2021.04a
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    • pp.42-42
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    • 2021
  • 산채류 종자는 주로 농가의 자가 채종으로 생산되고 있다. 농가에서는 종자만을 생산하기 위해서 산채를 재배하지 않으며, 대체로 산채를 수확한 후 채종하는 실정이다. 하지만 종자생산을 위해서 생채나 나물을 언제까지 수확해야 하는지에 대한 한계기 설정이 불분명하다. 따라서 전북농업기술원 허브산채시험장에서는 개미취와 섬쑥부쟁이는 5년생, 곤달비는 3년생 묘목을 이용하여 종자생산을 위한 적정 생채수확 한계기를 설정하고자 시험을 실시하였다. 55% 차광막을 설치한 노지 재배포장에서 생채 수확 한계기를 각각 2020년 4월, 5월, 6월까지로 두어 한계기별 생채 수량, 상품 수량 및 상품율과 개화 시기, 개화율 및 결실률 등을 조사하였다. 개미취의 생채 상품율은 수확 한계기가 늦어질수록 다소 떨어지는 경향이었으며, 개화 시기는 무처리와 4월까지 수확은 동일하였으나, 5월, 6월까지는 수확 한계기가 늦어질수록 지연되었다. 개화율은 대부분 10% 미만이었으며, 5월과 6월까지 생채를 수확한 경우는 추대 및 개화가 거의 되지 않았다. 섬쑥부쟁이는 생채를 6월까지 수확하면 4월까지 수확한 경우보다 약 2배 이상의 생채를 얻을 수 있으나 상품율은 확연히 떨어졌다. 개화 시작은 무처리와 4월까지 수확이 타 처리에 비해 빨랐으나 개화종은 시기에 상관없이 비슷하였다. 또 4월까지 생채를 수확한 경우 무처리보다 개화율, 결실률이 더 높았다. 5월 이후 수확은 생육 부진으로 이어져 개화 및 결실률이 매우 떨어졌다. 곤달비는 개미취와 섬쑥부쟁이에 비해 생채 수확 한계기가 늦어질수록 상품 수량이 눈에 띄게 증가하였으며, 처리 간 추대 시기도 차이는 없었다. 개화율은 5월 수확 이후 낮아졌으며, 결실률은 6월 이후에 급격히 떨어졌다. 따라서 채종을 위해서는 차광재배 시 개미취와 섬쑥부쟁이는 생채 수확시기를 4월 하순, 곤달비는 5월 하순까지로 한정해야 할 것으로 판단된다.

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The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome (한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석)

  • Park, Sang-Jin;Kim, Sook-Ryung;Baek, Kum-Nyeo;Yoon, Joon-No;Jeong, Eun-Jeong;Kown, Ji-Eun;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.133-141
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    • 2007
  • Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

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Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome (프래더 윌리 증후군의 유전학적 발병 기전에 따른 표현형 및 성장 호르몬 치료 효과에 관한 연구)

  • Bae, Keun Wook;Ko, Jung Min;Yoo, Han Wook
    • Clinical and Experimental Pediatrics
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    • v.51 no.3
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    • pp.315-322
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    • 2008
  • Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone (GH) therapy between these two PWS genotypes was analyzed. Methods : Fifty-three patients were diagnosed as having PWS based on molecular and cytogenetic analyses and clinical features. Data that included maternal age, birth weight, a feeding problem in the neonatal period, cryptorchidism, developmental delay or mental retardation, short stature, hypopigmentation, changes in height, weight, and body mass indexes (BMI) before and after GH treatment were obtained by a retrospective review of medical records. The data from the patients with microdeletion were compared with those from the patients with mUPD(15). Results : Of the 53 patients with genetically confirmed PWS, 39 cases had microdeletion and 14 mUPD(15). Maternal ages were significantly higher in the mUPD(15) group, and hypopigmentation and a feeding problem in the neonatal period were more frequent in the microdeletion group. Growth hormone was administered to 20 patients [14 with microdeletion, 6 with mUPD(15)]. There were no differences between the two groups in height velocity, weight and height SDS, and BMI after GH therapy. Conclusion : Phenotype and genotype correlations were observed in Korean PWS patients, such as more advanced maternal ages in the mUPD(15) group and more feeding problems and hypopigmentations in the microdeletion group. Further long-term prospective studies are needed to correlate other aspects of the phenotypes.