|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for MSH6(NM_000179.2) Search again
Product ID:
HQP008493
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3, MSH-6, p160
Gene Description:
mutS homolog 6
Target Gene Accession:
NM_000179.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
|
|
| A | B |
|
Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
|
Summary
This gene encodes a protein similar to the MutS protein.
Gene References into function
- germline mutations in atypical HNPCC
- mutations in sporadic endometrial adenocarcinoma
- mutational analysis in HNPCC
- clinical characteristics/phenotypes of patients with germline mutations
- hMSH2-hMSH6 is activated by recognition of 8-oxo-G lesions. Our data are consistent with the notion that post-replication MMR only participates in the repair of mismatched 8-oxo-G lesions
- interacts with MutY homolog
- Germline mutations in MSH6 gene may be involved in the development of hereditary and sporadic colorectal cancer
- hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA
- how MSH6 mutations cause susceptibility to hereditary non-polyposis colorectal cancer syndrome
- Interactions between p53, hMSH2-hMSH6 and HMG I(Y) on Holliday junctions and bulged bases
- Patients carry missense mutations in both MSH2 and MSH6.
- Oxidative stress in rheumatoid arthritis synovial tissue relaxes the mismatch repair system by suppressing MSH6, not only creating DNA adducts that are potentially mutagenic, but also suppressing the mechanisms that limit the DNA damage.
- This protein is mutated in endometrial cancers.
- Although genomic rearrangements of MSH6 play a small role in the spectrum of all mutations predisposing to hereditary non-polyposis colorectal cancer (HNPCC), up to 10-20% of patients with MSH6 negative tumors harbor germline rearrangements in this gene.
- hMSH6, a component of the heterodimeric mismatch recognition complex hMSH2/hMSH6 (hMutS(alpha)), interacts with the BLM protein both in vivo and in vitro
- MSH2/MSH6 complex binds specificity to DNA containing an IdUrd-G mismatch.
- Altogether, our results indicate that disease-causing germline mutations of MSH6 are rare in HNPCC
- characterized the structure of the MSH6 promoter region to examine the mechanisms of transcriptional regulation of the MSH6 gene
- mutations in the MSH6 gene, and not in the POLD1 gene, are primarily responsible for the elevated HPRT mutation rates in a colon cancer cell line
- Mutations of the MSH6 is associated with double primary cancers of the colorectum and the endometrium
- Eight novel germline mutations in MSH6 familial and nonfamilial colorectal cancer patiens with loss of MSH6 function.
- Data suggest that in human cell lines, ubiquitin-proteasome could play an important role in the regulation of hMutSalpha (hMSH2/hMSH6) protein expression, thereby regulating mismatch repair activity.
- hMSH2/6 formed a complex with BLM-p53-RAD51 in response to the damaged DNA forks during double-stranded break repair.
- MSH6 germline mutations are associated with increased cancer risk
- MutSalpha has two nucleotide binding sites with differential specificities for ADP and ATP and the ADP.MutSalpha.ATP ternary complex has an important role in mismatch repair
- role in sperm function, may have application in the development of a contraceptive vaccine
- 1 new mutation (c.3488A>T) was found in a Korean HNPCC family.
- A novel MSH6 germ-line mutation in hereditary nonpolyposis colorectal cancer has been identified.
- Our results suggest that MSH6 may not be the underlying gene in breast cancer families with a history of colorectal and/or endometrial cancer. The Glu995STOP founder mutation is not a familial breast cancer predisposition allele.
- Results indicate that protein kinase C (PKC) zeta modulates hMutS alpha (MSH2, MSH6)stability and protein levels, and suggest a role for PKC zeta in genome stability by regulating mismatch repair activity.
- Defective DNA MMR is uncommon in long-term survivors of pancreatic cancer and does not account for the survival benefit in those with sporadic pancreatic cancer.
- This study investigates microsatellite instability in multiple primary colorectal cancers, and the relevance of MLH1, MSH2, and MSH6 gene expression in hereditary nonpolyposis colon cancer.
- two MSH6 mutations may have a role in HNPCC-associated tumors
- The inactivation of the DNA-mismatch-repair-gene MSH6 and microsatellite instability may play a minor role in somatic colorectal cancer development.
- MSH6/MUTYH heterozygote mutation carriers display a predominant HNPCC molecular tumour phenotype, with microsatellite instability and underrepresentation of G>T transversions.
- Bcl2 suppression of MMR may occur in a novel mechanism by directly regulating the heterodimeric hMSH2-hMSH6 complex, which potentially contributes to genetic instability and carcinogenesis
- Two to six percent of CRC are caused by germline mutation in the mismatch repair genes MLH1, MSH2 and MSH6.
- Expression of hMSH2 and hMLH1 proteins was up-regulated in three cases, whereas in two cases that of hPMS2 was increased. hMSH6 expression was comparable to that of normal cells in all cases.
- genomic rearrangements of MLH1 and MSH6 in patients suspected of hereditary nonpolyposis colorectal cancer were studied using a new interphase FISH technique
- heterozygous mutations in the MSH6 gene cause DNA mismatch repair
- The researchers found evidence of one germline mutation associated with the clinical phenotype of Lynch syndrome.
- Alterations in TGF-betaRII, BAX, IGFIIR, caspase-5, hMSH3 and hMSH6 genes of microsatellite instability are rare in urinary bladder carcinoma and they are not associated with microsatellite instability or the presence of p53 mutations.
- 100 neoplasms of large bowel from suspected HNPCC families were analyzed for MSI (BAT 25 & BAT 26 markers) & immunohistochemical expression of the MSH6 protein. We found 12 tumors (from different families) showing instability or lack of MSH6 expression.
- Three novel missense mutations and a new SNP of the MSH6 gene observed in the probands of Chinese hereditary non-polyposis colorectal cancer (HNPCC) families, may play an important role in the development of HNPCC.
- summary of basic information on MSH6 mutations and colon cancer predisposition [review]
- There is strong associations between the MSH2 -118T>C but not MSH6 polymorphism and family history of CRC based on the Amsterdam criteria I (P = 0.005) and Amsterdam criteria I and II (P = 0.036)
- A homozygous complex MSH6 splicing alteration in the index patients of the first family and a novel homozygous PMS2 mutation (c.182delA) in the index patient of the second family, were identified.
- The phenotype of a germline MSH-6 mutation differs from that of MLH-1 and MSH-2 mutations.
- The researchers found that MSH6 mutations are found more often in endometrial cancer patients than in families with hereditary non-polyposis colorectal cancer families.
- In HNPCC patients carrying MSH6 mutations the frequency of MUTYH mutations was not significantly higher than found in healthy controls
- interaction of the replication clamp with other repair protein(s) accounts for the essential role of PCNA in MutSalpha-dependent mismatch repair
- These data suggest that bi-allelic mutations of one of the MMR genes should be considered in patients who develop early-onset multiple HNPCC-associated tumors and autoimmune disorders.
- The S144I mutationis located in the DNA binding surface of the PWWP domain, but it only moderately affects domain stability, and it does not perturb DNA binding in vitro.
- These data indicate that MutSalpha associates with DNA non-specifically and forms an alpha-loop interaction with the DNA substrate.
- There is a high incidence of MSH6 mutations in families tested for Lynch syndrome in a diagnostic setting. Many of these families remain underdiagnosed using the AC II.
- cancer-associated mutations in hMSH6 can disrupt the intramolecular signaling that coordinates mismatch binding with adenosine nucleotide processing