• Title/Summary/Keyword: null phenotype

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Estimation of p-values with Two Dimensional Null Distributions from Genomic Data Set

  • Yee, Jaeyong;Park, Mira
    • Journal of the Korean Data Analysis Society
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    • v.20 no.6
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    • pp.2711-2719
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    • 2018
  • When an observable is described by a single value, the statistic significance may be estimated by construction of null distribution using permutation and counting the portion of it that exceeds the observed value by chance. Genome-wide association study usually focuses on the association measure between a single or interacting genotypes with a single phenotype. However investigation of common genotypes associated simultaneously on multiple phenotypes may involve the observables that should be described with multiple numbers. Statistical significance for such an observable would involve null distribution in multiple dimensions. In this study, extension of the p-value estimation process using null distribution in one dimension has been sought that may be applicable to two dimensional case. Comparison of the position of points within the set of points they form has been proposed to use a positioning parameter inspired by the extension of the Kolmogorov-Smirnov statistic to two dimensions.

Systematic Analysis on the GSTM1 Null Phenotype and Prostate Cancer Risk in Chinese People

  • Shi, Jing;Zhuang, Yan;Liu, Yan;Yan, Cheng-Quan;Liu, Xian-Kui;Zhang, Ying
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.5
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    • pp.2009-2011
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    • 2015
  • Objective: Glutathione S-transferase M 1 (GSTM1) is implicated as a risk factor for prostate cancer. However, this issue is not clear in Chinese population. This systemic analysis was conducted to evaluate the effect of GSTM1 null genotypes on prostate cancer risk in Chinese. Methods: Published studies investigating the associations between GSTM1 null genotypes and the risk of prostate cancer in China were identified by using a predefined search strategy. Main statisticals were pooled and estimated according to the primarily reported data. Results: The prevalence of the GSTM1 null genotype was higher in prostate cancer patients than in controls, with significance. Conclusion: The GSTM1 null genotypes is associated with increased risk of prostate cancer in Chinese.

LAMMER Kinase Lkh1 Is an Upstream Regulator of Prk1-Mediated Non-Sexual Flocculation in Fission Yeast

  • Park, Yoon-Dong;Kwon, Soo Jeong;Bae, Kyung Sook;Park, Hee-Moon
    • Mycobiology
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    • v.46 no.3
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    • pp.236-241
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    • 2018
  • The cation-dependent galactose-specific flocculation activity of the Schizosaccharomyces pombe null mutant of $lkh1^+$, the gene encoding LAMMER kinase homolog, has previously been reported by our group. Here, we show that disruption of $prk1^+$, another flocculation associated regulatory kinase encoding gene, also resulted in cation-dependent galactosespecific flocculation. Deletion of prk1 increased the flocculation phenotype of the $lkh1^+$ null mutant and its overexpression reversed the flocculation of cells caused by lkh1 deletion. Transcript levels of $prk1^+$ were also decreased by $lkh1^+$ deletion. Cumulatively, these results indicate that Lkh1 is one of the negative regulators acting upstream of Prk1, regulating non-sexual flocculation in fission yeast.

Deletion of GSTM1 and T1 Genes as a Risk Factor for Development of Acute Leukemia

  • Dunna, Nageswara Rao;Vure, Sugunakar;Sailaja, K.;Surekha, D.;Raghunadharao, D.;Rajappa, Senthil;Vishnupriya, S.
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.4
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    • pp.2221-2224
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    • 2013
  • The glutathione S-transferases (GSTs) are a family of enzymes involved in the detoxification of a wide range of chemicals, including important environmental carcinogens, as well as chemotherapeutic agents. In the present study 294 acute leukemia cases, comprising 152 of acute lymphocytic leukemia (ALL) and 142 of acute myeloid leukemia, and 251 control samples were analyzed for GSTM1 and GSTT1 polymorphisms through multiplex PCR methods. Significantly increased frequencies of GSTM1 null genotype (M0), GSTT1 null genotype (T0) and GST double null genotype (T0M0) were observed in the both ALL and AML cases as compared to controls. When data were analyzed with respect to clinical variables, increased mean levels of WBC, Blast %, LDH and significant reduction in DFS were observed in both ALL and AML cases with T0 genotype. In conclusion, absence of both GST M & GST T might confer increased risk of developing ALL or AML. The absence of GST enzyme might lead to oxidative stress and subsequent DNA damage resulting in genomic instability, a hallmark of acute leukemia. The GST enzyme deficiency might also exert impact on clinical prognosis leading to poorer DFS. Hence GST genotyping can be made mandatory in management of acute leukemia so that more aggressive therapy such as allogenic stem cell transplantation may be planned in the case of patients with a null genotype.

Roles of RasU in Cell Motility and Development

  • Uri Han;Taeck Joong Jeon
    • Journal of Integrative Natural Science
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    • v.16 no.2
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    • pp.47-51
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    • 2023
  • Ras small GTPases are involved in regulating various cellular signaling pathways including cell migration, proliferation, and differentiation. Ras GTPase subfamily is comprised of 15 proteins; 11 Ras, 3 Rap, and one Rheb related protein. Some Ras proteins, such as RasC and RasG, have been identified for their major functions, but there are proteins whose functions have not been studied yet, such as RasU and RasX. Here, we investigated the roles of RasU in cell motility and development. RasU shows the highest homology with RasX. To investigate the functions of RasU, rasU null cells were used to observe the phenotype. Cells lacking RasU were larger and more spread than wild-type cells. These results indicate that RasU plays a negative role in cell spreading. In addition, we investigated the roles of RasU in cell motility and development of Dictyostelium cells and found that rasU null cells exhibited decreased random migration speed and delayed developmental process. These results suggest that RasU plays an important role in cell motility and development.

EXPRESSION OF DSPP AND BSP MRNAS DURING ODONTOBLAST DIFFERENTIATION IN THE NFI-C (-/-) MICE (NFI-C 결손 생쥐의 상아모세포 분화과정에서 DSPP와 BSP mRNA의 발현)

  • Jung, Hyun-Ku;Lee, Sang-Ho;Lee, Nan-Young;Kim, Heung-Joong;Park, Joo-Cheol;Lee, Chang-Seop
    • Journal of the korean academy of Pediatric Dentistry
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    • v.32 no.4
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    • pp.662-669
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    • 2005
  • Nuclear factor I (NFI) exists in the odontoblast and osteoblast. NFI-C null mice demonstrated aberrant odontoblast differentiation, abnormal dentin formation, and molar lacking roots. The purpose of this study was to examine phenotype of the aberrant odontoblast in NFI-C null mice and to evaluate the expression of DSPP and BSP mRNAs in NFI-C null mice with in-situ hybridization. The results were as follows: 1. In the NFI-C (-/-) mice, the crown dentin of molar showed normally formation, but there was no root dentin. 2. In the NFI-C (-/-) mice, the labial dentin of mandibular incisors showed relatively a lot of dentin formation, but the lingual dentin showed defect. 3. In the NFI-C (-/-) mice, the odontoblast of mandibular incisors revealed abnormal shape and trapped in osteodentin-like mineralized tissue. 4. In the NFI-C (-/-) mice, the odontoblast in the crown dentin of molars showed strong expression of DSPP, the odontoblast in the root dentin of molars was not expression of DSPP. In the NFI-C (-/-) mice the odontoblast in the mandibular incisors showed weekly expression of DSPP 5. In the wild mice, the odontoblasts of mandibular incisors were not expression of BSP, but in the NFI-C (-/ -) mice the odontoblast of mandibular incisors showed strong expression of BSP These results suggest that odontoblast in the NFI-C (-/-) mice changes the phenotype into osteoblast.

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Mechanosensitive β-catenin signaling regulates lymphatic vascular development

  • Cha, Boksik;Srinivasan, R. Sathish
    • BMB Reports
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    • v.49 no.8
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    • pp.403-404
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    • 2016
  • The Wnt/β-catenin signaling is an evolutionarily conserved pathway that plays a pivotal role in embryonic development and adult homeostasis. However, we have limited information about the involvement of Wnt/β-catenin signaling in the lymphatic vascular system that regulates fluid homeostasis by absorbing interstitial fluid and returning it to blood circulation. In this recent publication we report that canonical Wnt/β-catenin signaling is highly active and critical for the formation of lymphovenus valves (LVVs) and lymphatic valves (LVs). β-catenin directly associates with the regulatory elements of the lymphedema-associated transcription factor, FOXC2 and activates its expression in an oscillatory shear stress (OSS)-dependent manner. The phenotype of β-catenin null embryos was rescued by FOXC2 overexpression. These results suggest that Wnt/β-catenin signaling is a mechanotransducer that links fluid force with lymphatic vascular development.

Ultrastructure of the Cell Wall of a Null Pigmentation Mutant, npgA1, in Aspergillus nidulans

  • Chung, Yun-Shin;Kim, Jung-Mi;Han, Dong-Min;Chae, Keon-Sang;Jahng, Kwang-Yeop
    • Journal of Microbiology
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    • v.41 no.3
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    • pp.224-231
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    • 2003
  • The null pigmentation mutant (npgA1) of Aspergillus nidulans was previously characterized by its production of no pigment at any stage of its life cycle, its reduction in hyphal branching, and its delay in the asexual spore development. The chemical composition of the cell wall was also altered in npgA1 mutants that became more sensitive to Novozyme 234$\^$TM/, which is possibly due to a structural defect in the cell wall. To investigate the effects of the cell wall structure on these pleiomorphic phenomena, we examined the ultrastructure of the cell wall in the npgA1 mutant (WX17). Scanning electron micrographs (SEM) showed that after being cultured for six days, the outermost layer of the conidial wall of WX17 peeled off. Although this phenotype suggested that the cell wall structure in WX17 may be modified, examination using TEM of the fine structure of cross-sectioned hyphal wall of WX17 did not show any differences from that of FGSC4. However, staining for carbohydrates of wall layers showed that the electron-translucent layer of the cell wall was missing in WX17. In addition, the outermost layer H1 of the hyphal wall was also absent in WX17. The ultrastructural observation and cytochemical analysis of cell walls suggested that the pigmentation defect in WX17 may be attributed to the lack of a layer in the cell wall.

Screening and Analysis for cTPx II-Interacting Protein Using Yeast Wo-hybrid System (Yeast Two-hybrid System을 이용한 cTPx II 결합단백질 탐색 및 분석)

  • Kim. Il-Han;Oh, Young-Mee;Cha, Mee-Kyung
    • The Journal of Natural Sciences
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    • v.15 no.1
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    • pp.79-88
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    • 2005
  • There are five isoforms of thiol peroxidase in yeast. Each isoform was named after its subcellular localization such as cytoplasmic TPx I, cTPx II, cTPx III, mitochondrial TPx (mTPx), and nuclear TPx (nTPx). Recently, we reported that unlike other TPx null mutants, cTPx IInull mutant showed a slow-growth phenotype. This observation suggests that cTPx II might be involved in yeast cell growth. In this study, for a first step toward to investigate the physiological function of cTPx II in yeast, we have identified a novel interaction between cTPx II and various proteins by using the yeast two-hybrid system.

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In Vivo Expression of the PTB-deleted Odin Mutant Results in Hydrocephalus

  • Park, Sunjung;Lee, Haeryung;Park, Soochul
    • Molecules and Cells
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    • v.38 no.5
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    • pp.426-431
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    • 2015
  • Odin has been implicated in the downstream signaling pathway of receptor tyrosine kinases, such as the epidermal growth factor and Eph receptors. However, the physiologically relevant function of Odin needs to be further determined. In this study, we used Odin heterozygous mice to analyze the Odin expression pattern; the targeted allele contained a ${\beta}$-geo gene trap vector inserted into the 14t intron of the Odin gene. Interestingly, we found that Odin was exclusively expressed in ependymal cells along the brain ventricles. In particular, Odin was highly expressed in the subcommissural organ, a small ependymal glandular tissue. However, we did not observe any morphological abnormalities in the brain ventricles or ependymal cells of Odin null-mutant mice. We also generated BAC transgenic mice that expressed the PTB-deleted Odin (dPTB) after a floxed GFP-STOP cassette was excised by tissue-specific Cre expression. Strikingly, Odin-dPTB expression played a causative role in the development of the hydrocephalic phenotype, primarily in the midbrain. In addition, Odin-dPTB expression disrupted proper development of the subcommissural organ and interfered with ependymal cell maturation in the cerebral aqueduct. Taken together, our findings strongly suggest that Odin plays a role in the differentiation of ependymal cells during early postnatal brain development.