1982-07-01

We have isolated three new mutations in uvrD that increase expression of the Escherichia coli SOS response in the absence of DNA damage. Like other uvrD (DNA helicase II) mutants, these strains are sensitive to UV irradiation and have high spontaneous mutation frequencies.

Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. … A portion of the complementary DNA encoding fibrillin has been cloned and mapped by in situ hybridization to chromosome 15. Here we report that the fibrillin gene is linked to the Marfan phenotype (theta = 0.00; logarithm of the odds (lod) = 3.9) and describe a de novo missense mutation in the fibrillin gene in two patients with sporadic disease. MED12 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, MED12 Genome Browser, MED12 References MED12 - Explore an overview of MED12, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data. 2017-08-01 · Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia.

Uvrd gene mutation

During DNA synthesis the newly synthesised strand will commonly include errors. In order to begin repair, the mismatch repair machinery distinguishes the newly synthesised strand from the template. In gram-negative Amorphic describes a mutation that causes complete loss of gene function. Amorph is sometimes used interchangeably with "genetic null".An amorphic mutation might cause complete loss of protein function by disrupting translation ("protein null") and/or preventing transcription ("RNA null"). The mismatch repair system (mutS, mutL and uvrD genes) in Pseudomonas aeruginosa: molecular characterization of naturally occurring mutants. We have recently described the presence of a high proportion of Pseudomonas aeruginosa isolates (20%) with an increased mutation frequency (mutators) in the lungs of cystic fibrosis (CF) patients. In order to facilitate purification of the UvrD protein we have subcloned the uvrD gene into a plasmid vector in which its transcription is under the control of the phage lambda leftward promoter.

Summary. The uvrD gene of Escherichia coli that control UV sensitivity and spontaneous mutation frequency has been cloned with phage λ as vector.

UVRAG is a tumor suppressor candidate involved in autophagy, which is truncated in cancers by a frameshift (FS) mutation and expressed as a shortened UVRAG FS. To investigate the role of UVRAG FS in vivo, we generated mutant mice that inducibly express UVRAG FS (iUVRAG FS ).

1988-07-01 I think it depends on the system and conditions you have, but please see if any of these papers may be of any help. Hall, J Mol Evol 1995 40, 86-93, 1995; Tang & Smith, Mutat Res 80, 15-25, 1981 In this report, we focus on the UvrD homolog in Helicobacter pylori , a genetically diverse organism that lacks many known DNA repair proteins, including those involved in mismatch repair and recombinational repair, and that is noted for high levels of inter- and intragenomic recombination and mutation.

To exclude mutations in other genes than the uvrD, we started from a uvrD3 mutant strain, and isolated uvrD-ts mutants by intragenic sup- pression of the uvrD3 mutation. A kinetic study of uvrD gene expression in vivo and the identifica- tion of a suppressor mutation in one of the UV-ts uvrD mutants will be also described.

Other CGSC Information.

doi: 10.1038/s41467-019-13475-w. 2021-02-05 · I just found out I have a MTHFR homozygous A1298C mutation (the C677T mutation was NOT detected). What does this mean for treatment and further testing recommendations? See answer. I have recently been diagnosed with the C677T heterozygous gene mutation. 2012-05-09 · UvrD monomer binding to ssDNA occurs randomly, so after the UvrD:ssDNA complex formed, it was mixed with buffer T 20, ATP, MgCl 2, and heparin. Once the UvrD monomer reached the Cy3-labeled and fluorescein-labeled 5’-ends of the ssDNA, the fluorescence intensity was enhanced and quenched, respectively.
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Both conjugational recombination efficiency and MMS damaged DNA repair proficiency returned to wild-type levels in the AuwDruvB9double mutant. Suppres- sion of the effects of the ruvB mutation by a uvrD deletion was dependent on the recG and recN genes Europe PMC is an archive of life sciences journal literature. Please help EMBL-EBI keep the data flowing to the scientific community! Take part in our Impact Survey (15 minutes). A helicase with DNA-dependent ATPase activity (PubMed:8419285).

Skeletal muscle comprises fast-twitch (white) fibres that fatigue quickly and slow-twitch (red) fibres that are more resistant to fatigue. The protein α-actinin-3, which is found only in fast-twitch fibres, is absent in almost 20 per cent of people – almost 1.5 billion individuals – due to a mutation in the gene that codes for it.
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1981-12-01

Destruction ofthis repressor allows expression ofthe SOSregulon. Whatconstitutes the inducing signal andhowit is gener-ated by DNAdamage is unknown. Several conditionally uvrD null mutant of Haemophilus inﬂuenzae is sensitive to UV radiation, exhibits reduced levels of host-cell reactivation and decreased phage recombination [26]. In another study, inactivation of Haemophilus inﬂuenzae uvrD led to a two-fold increase in spontaneous mutation resulting in rifampicin-resistance and a three-fold 2001-05-10 · To do this, we transformed a uvrD deletion mutant with a plasmid carrying the wildtype uvrD gene under control of a foreign promoter.

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2017-08-01 · Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia.

The phenotype of the uvrD::Mud(Amp, Lac) mutant was mutator and UV-sensitive but not as deficient in host cell reactivation or repair of methyl methanesulfonate damage as the previously described uvrD3 mutant. Strongly sensitive to UV, ciprofloxacin (CFX), and azidothymidine (AZT) in single deletion mutants, radA-uvrD double deletions are more sensitive yet. To exclude mutations in other genes than the uvrD, we started from a uvrD3 mutant strain, and isolated uvrD-ts mutants by intragenic sup- pression of the uvrD3 mutation. A kinetic study of uvrD gene expression in vivo and the identifica- tion of a suppressor mutation in one of the UV-ts uvrD mutants will be also described.