Where is the Mutyh gene located?

Where is the Mutyh gene located?

MUTYH (mutY DNA glycosylase) is a human gene that encodes a DNA glycosylase, MUTYH glycosylase. It is involved in oxidative DNA damage repair and is part of the base excision repair pathway….

Location (UCSC) Chr 1: 45.33 – 45.34 Mb Chr 4: 116.81 – 116.82 Mb
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Is MUTYH a tumor suppressor gene?

In this study, we demonstrate that the human MUTYH gene is a transcriptional target of p53 and thus propose that MUTYH is a potential mediator of p53 tumor suppression by inducing death of premutagenic cells generated under oxidative conditions.

What is Lynch syndrome?

Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common cause of hereditary colorectal (colon) cancer. People with Lynch syndrome are more likely to get colorectal cancer and other cancers, and at a younger age (before 50), including.

How is Gardner’s syndrome inherited?

Gardner syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change ( mutation ) in one copy of the responsible gene in each cell . In some cases, an affected person inherits the mutation from an affected parent.

How common is the MUTYH gene mutation?

Most colorectal cancer is sporadic, meaning it occurs by chance with no known cause. The percentage of colorectal cancer that can be attributed to MAP is unknown. It is estimated that as many as 1 in every 100 people may carry a single mutation in the MUTYH gene.

What is the ATM gene responsible for?

The ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide.

What does Mutyh stand for?

MUTYH (MYH)-associated polyposis (MAP) is a hereditary condition. People with MAP tend to develop multiple adenomatous colon polyps during their lifetime and will have an increased risk of colorectal cancer if they are not monitored closely with colonoscopies.

How do you pronounce Mutyh?

Pronunciation: (… uh-SOH-see-ay-ted PAH-lee-POH-sis)

Can you survive Gardner syndrome?

Gardner syndrome and cancer Intestinal polyps are the main concern for patients with Gardner syndrome because of their tendency to become cancerous. However, complete removal of the colon and most of the rectum increases the 5-year survival rate of the patients to nearly 100%.

What genetic disorders cause cysts?

Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body.

What are the mutations in the MYH9 gene?

MYH9 -related disorder is caused by mutations in the MYH9 gene. The MYH9 gene provides instructions for making a protein called myosin-9. This protein is one part (subunit) of the myosin IIA protein. There are three forms of myosin II, called myosin IIA, myosin IIB and myosin IIC.

What does the promoter region of MYH9 encode?

It encodes non-muscle myosin heavy chain IIA (NMHC IIA), a protein of 1,960 amino acids. Consistent with its wide expression in cells and tissues, the promoter region of MYH9 is typical of housekeeping genes having no TATA box but high GC content, with multiple GC boxes.

What are the symptoms of MYH9 related disorder?

MYH9 -related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes ( cataracts ). The bleeding problems in people with MYH9 -related disorder are due to thrombocytopenia.

How is macrothrombocytopenia related to MYH9?

MYH9-related macrothrombocytopenia disorders are characterized by a decreased platelet count with large, granulated platelets and the presence of neutrophilic inclusions (Fig. 2.19 ). The Dohle-like bodies are blue, spindle-shaped inclusions in the periphery of the neutrophil cytoplasm.