Mapping of the Human Genes Encoding Cyclin H (CCNH) and the CDK-Activating Kinase (CAK) Assembly Factor MAT1 (MNAT1) to Chromosome Bands 5q13.3–q14 and 14q23, Respectively

Neisseria gonorrhoeae is an etiological agent of gonorrhea, which remains a global health problem. This bacterium possesses MutL and MutS DNA repair proteins encoded by mutL and mutS genes, whose inactivation causes a mutator phenotype. We have demonstrated the differential gene expression in N. gonorrhoeae mutL and mutS mutants using DNA microarrays. A subset of differentially expressed genes encodes proteins that can influence adhesion and biofilm formation. Compared to the wild-type strain, N. gonorrhoeae mutL and mutS mutants formed denser biofilms with increased biofilm-associated biomass on the abiotic surface. The N. gonorrhoeae mutS::km, but not the mutL mutant, was also more adherent and invasive to human epithelial cells. Further, during infection of epithelial cells with N. gonorrhoeae mutS::km, the expression of some bacterial genes encoding proteins that can influence gonococcal adhesion was changed compared with their expression in cells infected with the wild-type gonococcus, as well as of human genes’ encoding receptors utilized by N. gonorrhoeae (CD46, CEACAM 1, HSPG 2). Thus, deficiency in the mutS gene resulting in increased mutation frequency in singular organisms can be beneficial in populations because these mutants can be a source of features linked to microbial fitness.

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Amphotericin B Activation of Human Genes Encoding for Cytokines

The Journal of Infectious Diseases ◽

10.1086/314495 ◽

1998 ◽

Vol 178 (6) ◽

pp. 1726-1733 ◽

Cited By ~ 47

Author(s):

P. David Rogers ◽

John K. Jenkins ◽

Stanley W. Chapman ◽

Kenneth Ndebele ◽

Brenda A. Chapman ◽

...

Keyword(s):

Amphotericin B ◽

Human Genes ◽

Genes Encoding

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Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis

Journal of Medical Genetics ◽

10.1136/jmedgenet-2019-106324 ◽

2019 ◽

Vol 57 (4) ◽

pp. 217-225 ◽

Cited By ~ 1

Author(s):

Hansong Lee ◽

Seongdo Jeong ◽

Yeuni Yu ◽

Junho Kang ◽

Hokeun Sun ◽

...

Keyword(s):

Chromaffin Cells ◽

Meta Analysis ◽

Random Effect ◽

Random Effect Model ◽

Genetic Mutations ◽

Sdhb Mutation ◽

Sdhd Mutation ◽

Effect Model ◽

Genes Encoding ◽

Assembly Factor

BackgroundPheochromocytoma and paraganglioma (PPGL) are tumours that arise from chromaffin cells. Some genetic mutations influence PPGL, among which, those in genes encoding subunits of succinate dehydrogenase (SDHA, SDHB, SDHC and SDHD) and assembly factor (SDHAF2) are the most relevant. However, the risk of metastasis posed by these mutations is not reported except for SDHB and SDHD mutations. This study aimed to update the metastatic risks, considering prevalence and incidence of each SDHx mutation, which were dealt formerly all together.MethodsWe searched EMBASE and MEDLINE and selected 27 articles. The patients included in the studies were divided into three groups depending on the presence of PPGL. We checked the heterogeneity between studies and performed a meta-analysis using Hartung-Knapp-Sidik-Jonkman method based on a random effect model.ResultsThe highest PPGL prevalence was for SDHB mutation, ranging from 23% to 31%, and for SDHC mutation (23%), followed by that for SDHA mutation (16%). The lowest prevalence was for SDHD mutation, ranging from 6% to 8%. SDHAF2 mutation showed no metastatic events. The PPGL incidence showed a tendency similar to that of its prevalence with the highest risk of metastasis posed by SDHB mutation (12%–41%) and the lowest risk by SDHD mutation (~4%).ConclusionThere was no integrated evidence of how SDHx mutations are related to metastatic PPGL. However, these findings suggest that SDHA, SDHB and SDHC mutations are highly associated and should be tested as indicators of metastasis in patients with PPGL.

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