What is an inactivating mutation?

by admin | Jun 29, 2016. A change in the DNA that leads to a reduced or complete loss of function of a protein.

What is ARID1B?

What is ARID1B syndrome? ARID1B syndrome is a recently discovered condition. The term used by clinical geneticists is ARID1B-related intellectual disability. Intellectual disability can be shortened to ID.

What is a form of mutation?

There are three types of DNA Mutations: base substitutions, deletions and insertions. 1. Base Substitutions. Single base substitutions are called point mutations, recall the point mutation Glu —–> Val which causes sickle-cell disease. Point mutations are the most common type of mutation and there are two types.

What is a mutated human?

A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.

What is a conditional mutation?

In the class of conditional mutations, a mutant allele causes a mutant phenotype in only a certain environment, called the restrictive condition, but causes a wild-type phenotype in some different environment, called the permissive condition. Geneticists have studied many temperature-conditional mutations.

What is SYNGAP1?

SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking.

Are there human mutations?

Due to the combined action of hundreds of genes, mutation rates are extremely low–in humans, about one point mutation per 100 MB or about 60 genome-wide per generation (Kong et al., 2012; Ségurel et al., 2014).

What is Schinzel giedion syndrome?

Schinzel Giedion syndrome is characterized by an unusual facial appearance as well as abnormalities of the skeleton, kidney, hair and brain. Individuals with this disorder have an obstruction of the tube that carries urine from the kidney into the bladder (ureter).

How do you view mutations in ARID2 gene?

The gene view histogram is a graphical view of mutations across ARID2. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left.

What is the function of ARID2 in cancer?

This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas.

How does ARID2 deficiency affect the growth of cells?

In addition, we showed that ARID2 deficiency provokes profound chromatin structural changes altering cell transcriptional programs, which bolsters the proliferative and metastatic potential of the cells both in vitro and in vivo.

How does HBx downregulation affect ARID2 expression?

HBx protein-mediated ATOH1 downregulation suppresses ARID2 expression and promotes hepatocellular carcinoma. Hepatitis B virus X protein plays a crucial role in the pathogenesis of hepatocellular carcinoma. We previously showed that the tumor suppressor ARID2 inhibits hepatoma cell cycle progression and tumor growth.