Familial adenomatous polyposis (FAP) is caused by pathogenic variants in the APC gene resulting in the development of hundreds to thousands of adenomatous colonic polyps beginning in early adolescence. The lifetime risk for cancer in individuals with FAP is 100 percent. Additional symptoms may include dental anomalies, polyps of the gastric fundus and duodenum, and congenital hypertrophy of the retinal pigment epithelium (CHRPE). Pathogenic APC variants may also cause other related syndromes, including attenuated FAP (AFAP), gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), Gardner syndrome, and Turcot syndrome.. MUTYH-associated polyposis (MAP), caused by biallelic pathogenic variants in the MUTYH gene, can result in the development of colon polyps that are less numerous (typically 10-100) and is often diagnosed later in life. Genetic testing may be used to assess individuals at risk for FAP, other APC-associated polyposis, or MAP due to a suggestive personal or family ...
TY - JOUR. T1 - Polymorphisms of human 8-oxoguanine DNA glycosylase 1 and 8-hydroxydeoxyguanosine increase susceptibility to arsenic methylation capacity-related urothelial carcinoma. AU - Huang, Chao Yuan. AU - Pu, Yeong Shiau. AU - Shiue, Horng Sheng. AU - Chen, Wei Jen. AU - Lin, Ying-Chin. AU - Hsueh, Yu Mei. PY - 2015/9/10. Y1 - 2015/9/10. N2 - Arsenic causes oxidative stress in cultured animal and human cells, and it is a well-documented human carcinogen. We conducted a hospital-based case-control study including 167 cases of urothelial carcinoma (UC) and 334 age- and gender-matched healthy controls to evaluate the relationships between urinary arsenic profiles, urinary 8-hydroxydeoxyguanosine (8-OHdG) levels, and human 8-oxoguanine DNA glycosylase (hOGG1) genotypes and UC. The urinary arsenic species were analyzed by high-performance liquid chromatography and hydride generator-atomic absorption spectrometry. Genotyping for hOGG1 (Ser326Cys) and hOGG1 (−15C,G) was performed using the ...
Human DNA topoisomerase II-binding protein 1 (hTopBP1) plays an important role in DNA replication and the DNA damage checkpoint pathway. The human mutY homolog (hMYH) is a base excision repair DNA glycosylase that excises adenines or 2-hydroxyadenines that are mispaired with guanine or 7,8-dihydro-8-oxoguanine (8-oxoG). hTopBP1 and hMYH were involved in ATR-mediated Chk1 activation, moreover, both of them were associated with ATR and hRad9 which known as checkpoint-involved proteins. Therefore, we investigated whether hTopBP1 interacted with hMYH, and what the function of their interaction is. We documented the interaction between hTopBP1 and hMYH and showed that this interaction increased in a hydroxyurea-dependent manner. We also mapped the hMYH-interacting region of hTopBP1 (residues 444-991). In addition, we investigated several cell cycle-related proteins and found that co-knockdown of hTopBP1 and hMYH significantly diminished cell cycle arrest due to compromised checkpoint kinase 1 (Chk1)
B cells that mediate normal, T cell-dependent, humoral immune responses must first pass through germinal centers (GCs) within the cortex of antigenically stimulated lymph nodes. As they move through the dark zone and then the light zone in the GC, B cells are subjected to somatic hypermutation and switch recombination within their rearranged immunoglobulin genes and also participate in a number of other processes that control development into memory cells or cells specialized for antibody secretion. To investigate the molecular mechanisms that contribute to B cell development within GCs, we constructed a recombinant DNA library enriched for cDNAs derived from human genes expressed in B cells at this site. This library was found to contain a cDNA structurally and functionally related to genes in bacteria and yeast for the DNA repair enzyme 8-oxoguanine DNA glycosylase. Northern blot analysis indicated that the human gene is expressed as two alternatively spliced messenger RNAs within GC B cells at levels
Since the discovery in 1974 of uracil DNA glycosylase (UDG), the first member of the family of enzymes involved in base excision repair (BER), considerable progress has been made in the understanding of DNA glycosylases, the polypeptides that remove damaged or mispaired DNA bases from DNA. We also know the enzymes that act downstream of the glycosylases, in the processing of abasic sites, in gap filling and in DNA ligation. This article covers the most recent developments in our understanding of BER, with particular emphasis on the mechanistic aspects of this process, which have been made possible by the elucidation of the crystal structures of several glycosylases in complex with their respective substrates, substrate analogues and products. The biological importance of individual BER pathways is also being appreciated through the inactivation of key BER genes in knockout mouse models. ...
DNA glycosylases are involved in the base excision repair pathway, and all mammals express multiple DNA glycosylases to maintain genome stability. However, the simultaneous detection of multiple DNA glycosylase still remains a great challenge. Here, we develop a single-molecule detection method for the simul
8-Oxoguanine glycosylase also known as OGG1 is a DNA glycosylase enzyme that, in humans, is encoded by the OGG1 gene. It is involved in base excision repair. It is found in bacterial, archaeal and eukaryotic species. OGG1 is the primary enzyme responsible for the excision of 8-oxoguanine (8-oxoG), a mutagenic base byproduct that occurs as a result of exposure to reactive oxygen species (ROS). OGG1 is a bifunctional glycosylase, as it is able to both cleave the glycosidic bond of the mutagenic lesion and cause a strand break in the DNA backbone. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. One set of spliced forms are designated 1a, 1b, 2a to 2e. All variants have the N-terminal region in common. Many alternative splice variants for this gene have been described, but the full-length nature for ...
To demonstrate the simultaneous detection of multiple DNA glycosylases, we used hOGG1 and hAAG as model enzymes. hOGG1 and hAAG may initiate the first step of base excision repair, and are considered to be functional biomarkers for lung cancer.12-14 The principle of the DNA glycosylase assay is illustrated in Scheme 1. This assay involves two steps: (1) the DNA glycosylase-mediated cleavage of molecular beacons and (2) the subsequent single-molecule detection. We designed two specific substrates for hOGG1 and hAAG, respectively. The substrate for hOGG1 is labeled with a Cy3 fluorophore at the 5′ terminus and a BHQ2 quencher at the 3′ terminus, and is modified with 8-oxoG positioned 6 deoxynucleotides downstream of a 5′-terminus. The substrate for hAAG is labeled with a Cy5 fluorophore at the 5′ terminus and a BHQ3 quencher at the 3′ terminus, and is modified with deoxyinosine positioned 5 deoxynucleotides downstream of a 5′-terminus (Scheme 1). The substrate for hOGG1 and the ...
1P7M: Solution structure and base perturbation studies reveal a novel mode of alkylated base recognition by 3-methyladenine DNA glycosylase I
8-oxoguanine DNA glycosylase (OGG1) is found in many species and catalyzes the excision of 8-oxoguanine from DNA. This modified base byproduct occurs as a result of exposure to reactive oxygen species. Alternative splicing of the C-terminal region of the OGG1 gene in humans results in two major groups of variants: type 1 and type 2. Both groups share a common N-terminal region that contains a mitochondrial targeting sequence required for OGG1 localization in mitochondria. Although knockout mice lacking the OGG1 gene were observed to have a normal lifespan, the precise role of OGG1 in mutagenesis and cancer remains controversial. OGG1 is also known as 8-hydroxyguanine DNA glycosylase, DNA-apurinic or apyrimidinic site lyase, AP lyase, N-glycosylase/DNA lyase, HMMH, MMH, MUTM, OGH1, and HOGG1.. ...
8-oxoguanine DNA glycosylase (OGG1) is found in many species and catalyzes the excision of 8-oxoguanine from DNA. This modified base byproduct occurs as a result of exposure to reactive oxygen species. Alternative splicing of the C-terminal region of the OGG1 gene in humans results in two major groups of variants: type 1 and type 2. Both groups share a common N-terminal region that contains a mitochondrial targeting sequence required for OGG1 localization in mitochondria. Although knockout mice lacking the OGG1 gene were observed to have a normal lifespan, the precise role of OGG1 in mutagenesis and cancer remains controversial. OGG1 is also known as 8-hydroxyguanine DNA glycosylase, DNA-apurinic or apyrimidinic site lyase, AP lyase, N-glycosylase/DNA lyase, HMMH, MMH, MUTM, OGH1, and HOGG1.. ...
Molecular dynamics (MD) simulations were carried out on the DNA oligonucleotide GGGAACAACTAG:CTAGTTGTTCCC in its native form and with guanine in the central G19:C6 base pair replaced by 8-oxoguanine (8oxoG). A box of explicit water molecules was used for solvation and Na+ counterions were added to neutralize the system. The direction and magnitude of global bending were assessed by a technique used previously to analyze simulations of DNA containing a thymine dimer. The presence of 8oxoG did not greatly affect the magnitude of DNA bending; however, bending into the major groove was significantly more probable when 8oxoG replaced G19. Crystal structures of glycosylases bound to damaged-DNA substrates consistently show a sharp bend into the major groove at the damage site. We conclude that changes in bending dynamics that assist the formation of this kink are a part of the mechanism by which glycosylases of the base excision repair pathway recognize the presence of 8oxoG in DNA.
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Day 6 contains 99 protein-coding genes, including MUTYH (mutY homolog). Throughout life, your cells suffer DNA damage, which is constantly repaired by enzymes - one of which is made by the gene MUTYH.. When the DNA encoding a repairer like MUTYH is itself mutated, though, mutations can start to run amok in the genome, leading to cancer. Inherited MUTYH variants are associated with polyposis and colon cancer.. MUTYH is named after the mutY gene in E. coli bacteria. The similarity to a bacterial gene means that it is as ancient as the common ancestor of prokaryotes and eukaryotes (,1.7 billion years.). Click here to see your MUTYH gene where you will see a cancer-associated variant flashing.. ...
DNA glycosylases help maintain the genome by excising chemically modified bases from DNA. In bacteria, DNA glycosylases that remove alkylated nucleobases have varying substrate specificities despite their structural similarity. Escherichia coli 3
MPG antibody (N-methylpurine-DNA glycosylase) for ICC/IF, WB. Anti-MPG pAb (GTX101916) is tested in Human samples. 100% Ab-Assurance.
Understanding of BRCA1/2 interaction with the base excision repair (BER) pathway could improve therapy based on synthetic lethality, whose effectiveness is based on homologous recombination deficiency in cells lacking functional BRCA genes. However, poly (ADP-ribose) polymerase (PARP) inhibitors failed in some patients and for this reason we explored BER key enzyme expression. In this study, the expression of BER enzymes (redox factor 1/apurinic-apyrimidinic endonuclease 1 (REF1/APEX1), NTH endonuclease III-like 1 (NTHL1), 8-oxoguanine DNA glycosylase (OGG1), PARP1) and of the scaffold protein XRCC1 (X-ray repair complementing defective repair in Chinese hamster cells 1) were investigated in familial (BRCA-related and not) and sporadic breast cancer cases. Furthermore, miR17 expression was measured because of its role in the epigenetic regulation of BRCA1. Gene expression was evaluated in BRCA1-mutated cell lines, SUM149PT and SUM1315MO2, and in a BRCA1-proficient triple-negative MDA-MB-231 ...
Buy our Recombinant Human NEIL1 protein. Ab123204 is a full length protein produced in Escherichia coli and has been validated in SDS-PAGE, MS. Abcam provides…
Noncysteinyl coordination to the [4Fe-4S]2+ cluster of the DNA repair adenine glycosylase MutY introduced via site-directed mutagenesis. Structural characterization of an unusual histidinyl-coordinated cluster ...
Role of nucleotide- and base-excision repair in genotoxin-induced neuronal cell death. - G E Kisby, H Lesselroth, A Olivas, L Samson, B Gold, K Tanaka, M S Turker
Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 2e, mRNA. (H00004968-R08) - Products - Abnova
15Gly Ser Leu Arg Leu Ser Cys Ala Ala Ser Gly Phe Asn Ile Lys 20 25 30Asp Thr Tyr Ile His Trp Val Arg Gln Ala Pro Gly Lys Gly Leu 35 40 45Glu Trp Val Ala Arg Ile Tyr Pro Thr Asn Gly Tyr Thr Arg Tyr 50 55 60Ala Asp Ser Val Lys Gly Arg Phe Thr Ile Ser Ala Asp Thr Ser 65 70 75Lys Asn Thr Ala Tyr Leu Gln Met Asn Ser Leu Arg Ala Glu Asp 80 85 90Thr Ala Val Tyr Tyr Cys Ser Arg Trp Gly Gly Asp Gly Phe Tyr 95 100 105Ala Met Asp Tyr Trp Gly Gln Gly Thr Leu Val Thr Val Ser Ser 110 115 120Ala Ser Thr Lys Gly Pro Ser Val Phe Pro Leu Ala Pro Ser Ser 125 130 135Lys Ser Thr Ser Gly Gly Thr Ala Ala Leu Gly Cys Leu Val Lys 140 145 150Asp Tyr Phe Pro Glu Pro Val Thr Val Ser Trp Asn Ser Gly Ala 155 160 165Leu Thr Ser Gly Val His Thr Phe Pro Ala Val Leu Gln Ser Ser 170 175 180Gly Leu Tyr Ser Leu Ser Ser Val Val Thr Val Pro Ser Ser Ser 185 190 195Leu Gly Thr Gln Thr Tyr Ile Cys Asn Val Asn His Lys Pro Ser 200 205 210Asn Thr Lys Val Asp Lys Lys Val Glu Pro Lys Ser Cys Asp Lys 215 220 225Thr His Thr Cys Pro Pro Cys ...
Synthetic sickness/lethality (SSL) can be exploited to develop therapeutic strategies for cancer. Deficiencies in the tumor suppressor proteins MLH1 and MSH2 have been implicated in cancer. Here we demonstrate that deficiency in MSH2 is SSL with inhibition of the DNA polymerase POLB, whereas deficiency in MLH1 is SSL with DNA polymerase POLG inhibition. Both SSLs led to the accumulation of 8-oxoG oxidative DNA lesions. MSH2/POLB SSL caused nuclear 8-oxoG accumulation, whereas MLH1/POLG SSL led to a rise in mitochondrial 8-oxoG levels. Both SSLs were rescued by silencing the adenine glycosylase MUTYH, suggesting that lethality could be caused by the formation of lethal DNA breaks upon 8-oxoG accumulation. These data suggest targeted, mechanism-based therapeutic approaches.. ...
Mitochondrial glycosylase/lyase that specifically excises 7,8-dihydro-8-oxoguanine residues located opposite cytosine or thymine residues in DNA, repairs oxidative damage to mitochondrial DNA, contributes to UVA ...
EC 3.2 Glycosylases. Glycosylases are classified under hydrolases, although some of them can also transfer glycosyl residues to oligosaccharides, polysaccharides and other alcoholic acceptors. The glycosylases are subdivided into those hydrolysing O- or S-glycosyl compounds (EC 3.2.1 and EC 3.2.3), i.e. glycosides, and those hydrolysing N-glycosyl compounds (EC 3.2.2). Accepted names for enzymes acting on D-sugars or their derivatives do not contain D, unless ambiguity would result from the common existance of the corresponding L-sugar.. EC 3.3 Acting on ether bonds. To this small subclass belong enzymes acting on ether bonds. It is subdivided into those hydrolysing on thioether and trialkylsulfonium compounds (EC 3.3.1) and those acting on ethers (EC 3.3.2).. EC 3.4 Acting on Peptide Bonds (Peptidases) It is recommended that the term "peptidase" be used as synonymous with "peptide hydrolase" for any enzyme that hydrolyses peptide bonds. Peptidases are recommended to be further divided into ...
7194PRTHomo sapiens 1Gly Ser Ser Phe Leu Ser Pro Glu His Gln Arg Val Gln Val Arg Pro1 5 10 15Pro His Lys Ala Pro His Val Val Pro Ala Leu Pro Leu Ser Asn Gln 20 25 30Leu Cys Asp Leu Glu Gln Gln Arg His Leu Trp Ala Ser Val Phe Ser 35 40 45Gln Ser Thr Lys Asp Ser Gly Ser Asp Leu Thr Val Ser Gly Arg Thr 50 55 60Trp Gly Leu Arg Val Leu Asn Gln Leu Phe Pro Pro Ser Ser Arg Glu65 70 75 80Arg Ser Arg Arg Ser His Gln Pro Ser Cys Ser Pro Glu Leu 85 90229PRTHomo sapiens 2Gly Ser Ser Phe Leu Ser Pro Glu His Gln Arg Val Gln Val Arg Pro1 5 10 15Pro His Lys Ala Pro His Val Val Pro Ala Leu Pro Leu 20 25322PRTHomo sapiens 3Gly Ser Ser Phe Leu Ser Pro Glu His Gln Arg Val Gln Val Arg Pro1 5 10 15Pro His Lys Ala Pro His 20424PRTHomo sapiens 4Gly Ser Ser Phe Leu Ser Pro Glu His Gln Arg Val Gln Val Arg Pro1 5 10 15Pro His Lys Ala Pro His Val Val 20591PRTHomo sapiens 5Phe Leu Ser Pro Glu His Gln Arg Val Gln Val Arg Pro Pro His Lys1 5 10 15Ala Pro His Val Val Pro Ala Leu Pro Leu Ser Asn Gln Leu Cys Asp 20 25 30Leu Glu ...
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Goat polyclonal antibody raised against synthetic peptide of NEIL1. A synthetic peptide corresponding to human NEIL1. (PAB6342) - Products - Abnova
As you guys follow my 12 week transformation video series you will see I train with Neil Hill, IFBB Pro trainer on a regular basis. It is Neil who is looking after me with my diet as well as my training plan. Of course, I am following his Y3T training plan and I have to say it works wonders! Here I just wanted to point out a few things which training with Neil really helps with!DetailsWhen we do leg extensions Neil will make sure all the smaller details are in place, it was just yesterday we did a week 2 leg workout. As I was doing extensions Neil would say things like point your toes up!! and contract at the top! These two small tips right here make all the difference. When I train with Neil I never lift a weight for weights sake, I always feel as if the target muscle is doing all the work and thats how it should be! Dont get me wrong, there are times when I just want to rep out to hit the target repetition range because I am in so much blood pain, but training with Yoda ensures I get 110%
목적: 방사선치료와 항암제치료의 급성부작용은 환자 개인에 따라 차이가 많다는 것은 임상경험을 통하여 널리 알려져 있다. 그러나 아직 이를 미리 예측할 수 있는 인자로 알려진 것은 없다. XRCC1 유전자는 DNA base-excision repair에 관여하는 유전자로 알려져 있다 저자들은 대장 직장암 환자를 대상으로 방사선치료와...
Neil deGrasse Tyson says missing the eclipse 'would be to not live as full a life as you could have' and having a video of it just doesn't match watching it happen. 
Question: What are your thoughts on cryogenic preservation and the idea of medically treating aging? His response: A marvelous way to just convince peo
Take control of what you can control, never ever give up on. Even when times are tough take control and find a way. Its hard, but there is always a way.
Hi everyone. I havent posted here for way too long. Time to start a sketchbook I think :slight_smile: Heres a few models I worked on lately in my spare time: Death of the endless - a bit of fanart, based on Neil Gaima…
BACKGROUND: The reported proportion of patients with familial adenomatous polyposis who have adrenal lesions varies between 7% and 13% compared with 4% in the general population; the prevalence of adrenal lesions in patients with attenuated familial adenomatous polyposis and MUTYH-associated polyposis is unknown. Data on the clinical relevance and clinical course are limited. OBJECTIVE: We aimed to report on the frequency, characteristics, and progression of adrenal lesions in polyposis patients. DESIGN: This was a historical cohort study. SETTINGS: The study was performed at the Academic Medical Center, Amsterdam. PATIENTS: All of the patients with familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis were included. Medical charts and imaging reports were analyzed for data on adrenal lesions. A radiologist reassessed all of the images. Patients had not routinely been screened for adrenal lesions. MAIN OUTCOME MEASURES: The frequency, ...
Accepted name: DNA-3-methyladenine glycosylase II. Reaction: Hydrolysis of alkylated DNA, releasing 3-methyladenine, 3-methylguanine, 7-methylguanine and 7-methyladenine. Other name(s): deoxyribonucleate 3-methyladenine glycosidase II; 3-methyladenine DNA glycosylase II; DNA-3-methyladenine glycosidase II; AlkA. Systematic name: alkylated-DNA glycohydrolase (releasing methyladenine and methylguanine). Comments: Involved in the removal of alkylated bases from DNA in Escherichia coli (cf. EC 2.1.1.63 methylated-DNA [protein]-cysteine S-methyltransferase).. Links to other databases: BRENDA, EXPASY, KEGG, Metacyc, PDB, CAS registry number: 89287-38-7. References:. 1. Evensen, G. and Seeberg, E. Adaptation to alkylation resistance involves the induction of a DNA glycosylase. Nature 296 (1982) 773-775. [PMID: 7040984]. 2. Karran, P., Hjelmgren, T. and Lindahl, T. Induction of a DNA glycosylase for N-methylated purines is part of the adaptive response to alkylating agents. Nature 296 (1982) 770-773. ...
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Herein, we describe a novel enzyme-free and label-free strategy for colorimetric assay of uracil DNA glycosylase (UDG) activity, which relies on a target-activated toehold-mediated strand displacement (TMSD) circuit. The strategy employs a detection probe composed of an uracil-containing strand and a catalyst strand (CS) designed to trigger the TMSD circuit. Thus, in the presence of UDG which cleaves uracil bases and destabilizes the detection probe, CS is released to promote the TMSD reaction. This leads to the liberation of a G-quadruplex DNAzyme strand (GS) with the peroxidase mimicking activity, which is initially caged by a blocker strand. Notably, a fuel strand is supplemented to promote another cycle of TMSD reaction by recycling the CS, which activates a large number of GSs. As a consequence, a distinct colorimetric signal is generated from the oxidation of ABTS by GSs. With this strategy, we selectively determined the UDG activity down to 0.006 U/ml, and also identified its presence ...
TY - JOUR. T1 - E2F1 regulates the base excision repair gene XRCC1 and promotes DNA repair. AU - Chen, Dexi. AU - Yu, Zhiyong. AU - Zhu, Zhiyi. AU - Lopez, Charles D.. PY - 2008/5/30. Y1 - 2008/5/30. N2 - The E2F1 transcription factor activates S-phase-promoting genes, mediates apoptosis, and stimulates DNA repair through incompletely understood mechanisms. XRCC1 (x-ray repair cross-complementing group 1) protein is important for efficient single strand break/base excision repair. Although both damage and proliferative signals increase XRCC1 levels, the mechanisms regulating XRCC1 transcription remain unclear. To study these upstream mechanisms, the XRCC1 promoter was cloned into a luciferase reporter. Ectopic expression of wild-type E2F1, but not an inactive mutant E2F1(132E), activated the XRCC1 promoter-luciferase reporter, and deletion of predicted E2F1 binding sites in the promoter attenuated E2F1-induced activation. Endogenous XRCC1 expression increased in cells conditionally expressing ...
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Oxidized DNA base lesions, such as thymine glycol (Tg) and 8-hydroxyguanine, are often toxic and mutagenic and have been implicated in carcinogenesis. To clarify whether NEIL1 protein, which exhibits excision repair activity towards such base lesions, is involved in gastric carcinogenesis, we examined 71 primary gastric cancers from Japanese patients and four gastric cancer cell lines for mutations and genetic polymorphisms of the NEIL1 gene. We also examined 20 blood samples from Chinese patients for NEIL1 genetic polymorphisms. Three mutations (c.82_84delGAG:p.Glu28del, c.936G , A and c.1000A , G:p.Arg334Gly) and two genetic polymorphisms were identified. When the excision repair activity towards double-stranded oligonucleotide containing a Tg:A base pair was compared among six types of recombinant NEIL1 proteins, p.Glu28del-type NEIL1, found in a primary case, was found to exhibit an extremely low activity level. Moreover, c.936G , A, located in the last nucleotide of exon 10 and detected in ...
Base excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair initiated by lesion-specific DNA glycosylases and completed by either of the two sub-pathways: short-patch BER where only one nucleotide is replaced and long-patch BER where 2-13 nucleotides are replaced. Each sub-pathway of BER relies on the formation of protein complexes that assemble at the site of the DNA lesion and facilitate repair in a coordinated fashion. This process of complex formation appears to provide an increase in specificity and efficiency to the BER pathway, thereby facilitating the maintenance of genome integrity by preventing the accumulation of highly toxic repair intermediates ...
Base excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair initiated by lesion-specific DNA glycosylases and completed by either of the two sub-pathways: short-patch BER where only one nucleotide is replaced and long-patch BER where 2-13 nucleotides are replaced. Each sub-pathway of BER relies on the formation of protein complexes that assemble at the site of the DNA lesion and facilitate repair in a coordinated fashion. This process of complex formation appears to provide an increase in specificity and efficiency to the BER pathway, thereby facilitating the maintenance of genome integrity by preventing the accumulation of highly toxic repair intermediates ...
PMID: 29860357 Kauppila JHK, Bonekamp NA, Mourier A, Isokallio MA, Just A, Kauppila TES, Stewart JB, Larsson NG (2018) Nucleic Acids Res Abstract: Mitochondrial DNA (mtDNA) mutations become more prevalent with age and are postulated to contribute to the ageing process. Point mutations of mtDNA have been suggested to originate from two main sources, i.e. replicative errors and oxidative damage, but the contribution of each of these processes is much discussed. To elucidate the origin of mtDNA mutations, we measured point mutation load in mice with deficient mitochondrial base-excision repair (BER) caused by knockout alleles preventing mitochondrial import of the DNA repair glycosylases OGG1 and MUTYH (Ogg1 dMTS, Mutyh dMTS). Surprisingly, we detected no increase in the mtDNA mutation load in old Ogg1 dMTS mice. As DNA repair is especially important in the germ line, we bred the BER deficient mice for five consecutive generations but found no increase in the mtDNA mutation load in these maternal ...
MUTYH - MUTYH (Myc-DDK-tagged)-Human mutY homolog (E. coli) (MUTYH), transcript variant gamma3 available for purchase from OriGene - Your Gene Company.
In this study, we report the role of genetic polymorphisms XRCC1 Arg194Trp (C→T) and Arg399Gln (G→A), OGG1 Ser326Cys (C→G), APEX1 Asp148Glu (T→G), MUTYH Gln335His (G→C) and PARP1 Val762Ala (T→C) on the individual susceptibility for TC. The frequencies of the different genotypes observed in the control population are similar to those reported in other Caucasian populations.. XRCC1 is a nuclear protein that, despite lacking any enzymatic activity, plays an important role in the efficient repair of SSBs and in the BER pathway: it acts as a scaffold protein that facilitates the recruitment of multiple DNA repair enzymes (such as Pol β, hOGG1, APEX1, PARP1 and LIG3) to lesion sites and coordinates the DNA damage repair response. Arg194Trp and Arg399Gln are among the most extensively studied XRCC1 coding region SNPs. Both polymorphisms have been shown to alter the functional activity of the resulting protein in vitro and to interfere with cancer susceptibility: the 194Trp allele has been ...
Glioblastoma may be the most invasive and aggressive mind tumor and includes a poor prognosis; elucidating the root molecular mechanisms is vital to choose molecular targeted treatments. the irradiation-induced glial-mesenchymal changeover (GMT), leading to advertised invasion and migration.14 Thus, an Amiloride hydrochloride improved knowledge of the invasive biology of GBM cells is required to develop innovative therapies to suppress GBM invasion. MicroRNAs (miRNAs) are little, non coding RNAs which range from 18 to 24 nucleotides long that adversely regulate gene manifestation in the post transcriptional level, through bottom pairing towards the 3UTR of target mRNA primarily.15 Because miRNAs modulate fundamental cell functions such as for example proliferation, migration, metabolism, and apoptosis,16 dysregulation of miRNA expression causes diverse diseases, including cancers.17,18 miRNAs can work as tumor suppressor oncogenes or genes so that as potential particular cancer biomarkers.19C21 ...
Glioblastoma may be the most invasive and aggressive mind tumor and includes a poor prognosis; elucidating the root molecular mechanisms is vital to choose molecular targeted treatments. the irradiation-induced glial-mesenchymal changeover (GMT), leading to advertised invasion and migration.14 Thus, an Amiloride hydrochloride improved knowledge of the invasive biology of GBM cells is required to develop innovative therapies to suppress GBM invasion. MicroRNAs (miRNAs) are little, non coding RNAs which range from 18 to 24 nucleotides long that adversely regulate gene manifestation in the post transcriptional level, through bottom pairing towards the 3UTR of target mRNA primarily.15 Because miRNAs modulate fundamental cell functions such as for example proliferation, migration, metabolism, and apoptosis,16 dysregulation of miRNA expression causes diverse diseases, including cancers.17,18 miRNAs can work as tumor suppressor oncogenes or genes so that as potential particular cancer biomarkers.19C21 ...
On the other hand, melatonin chemically inactivated hydrogen peroxide, reducing its potential to damage DNA. And finally, melatonin did not influence the repair of an a-basic (AP) site by cellular extracts, as was evaluated by a functional BER assay in vitro. In conclusion, melatonin can have a protective effect against oxidative DNA damage by chemical inactivation of a DNA-damaging agent as well as by stimulating DNA repair, but key factors in BER, viz. glycosylases and AP-endonucleases, do not seem to be affected by melatonin ...
One of the most frequent lesions formed in cellular DNA are abasic (apurinic/apyrimidinic, AP) sites that are both cytotoxic and mutagenic, and must be removed efficiently to maintain genetic stability. It is generally believed that the repair of AP