What is the MSH2 gene?
The MSH2 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division.
What protein does MSH2 produce?
MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a heterodimer with MSH6 to make the human MutSα mismatch repair complex. It also dimerizes with MSH3 to form the MutSβ DNA repair complex.
What chromosome is MSH6 on?
The name MSH6 stands for “MutS homolog 6.” The gene is located on chromosome 2. The MSH6 gene protein plays an important role in repairing DNA damage.
How many exons are in MSH2 gene?
The MSH2 gene is composed of 16 exons spanning in a region of 80098 bp. The transcribed mRNA has 3145 bp.
Is MSH6 a tumor suppressor gene?
MSH6 is also a tumor suppressor gene, although inactivation of MSH6 yields a slightly less severe phenotype than that caused by MSH2 or MLH1 mutations because in MSH6-deficient cells, one class of mismatches, insertions/deletions, apparently are repaired normally.
What is Boland inversion?
The variant is known as the Boland Inversion and the gene is associated with Lynch syndrome (AKA, hereditary nonpolyposis colorectal cancer). This episode may be a watershed event in the evolution of the genetic testing industry.
Where is the MSH2 gene located in humans?
DNA mismatch repair protein Msh2 also known as MutS homolog 2 or MSH2 is a protein that in humans is encoded by the MSH2 gene, which is located on chromosome 2.
Can a high promoter methylation of MSH2 cause cancer?
High Promoter methylation of MSH2 is associated with esophageal squamous cell carcinoma. promoter hypermethylation of hMLH1 and hMSH2 genes may be one of the causes of inactivation of these genes in sporadic colorectal cancer. Reduced expression of MSH2 is associated with laryngeal squamous cell carcinoma.
What are mutations in MLH1, MSH2 and PMS2?
Mutations in MLH1, MSH2, MSH6 and PMS2, which are one of the main causes of deficient mismatch repair and subsequent MSI, have been … Microsatellite instability (MSI) is present in more than 90% of colorectal cancers of patients with Lynch syndrome, and is therefore a feasible marker for the disease.
What is the role of MSH2 in DNA repair?
MSH2 is involved in many different forms of DNA repair, including transcription-coupled repair, homologous recombination, and base excision repair. Mutations in the MSH2 gene are associated with microsatellite instability and some cancers, especially with hereditary nonpolyposis colorectal cancer (HNPCC).