What does ERCC6 gene do?

The ERCC6 gene provides instructions for making a protein called Cockayne syndrome B (CSB). This protein is involved in repairing damaged DNA and appears to assist with gene transcription, which is the first step in protein production.

What kind of mutation causes Cockayne syndrome?

Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as CSB) or the ERCC8 gene (also known as CSA). These genes provide instructions for making proteins that are involved in repairing damaged DNA .

What does CSB protein do?

The CS complementation group B (CSB) protein is engaged in transcription coupled and global nucleotide excision repair, base excision repair and general transcription.

Where Does gene amplification occur?

Gene amplification is a copy number increase of a restricted region of a chromosome arm. It is prevalent in some tumors and is associated with overexpression of the amplified gene(s). Amplified DNA can be organized as extrachromosomal elements, as repeated units at a single locus or scattered throughout the genome.

How common is Cockayne syndrome?

Cockayne Syndrome is very rare and affects males and females in equal numbers. There are no indications of ethnic or racial partiality. The incidence of CS is less than 1 case per 250,000 live births in the U.S. As of 1992, about 140 cases of CS had been reported in the literature.

What is the life expectancy for Cockayne syndrome?

Cockayne syndrome type 3 (type C) appears later in childhood with milder symptoms than the other types and a slower progression of the disorder. People with this type of Cockayne syndrome live into adulthood, with an average lifespan of 40 to 50 years.

What type of mutation is amplification?

Amplification. An abnormal process in which many copies of the same chromosome region are produced via DNA replication. The result can be a small ‘microsatellite’ chromosome or a region of DNA within a chromosome with many contiguous copies of a small set of genes. Aneuploidy.

What causes gene amplification?

Gene amplification refers to an increase in the number of copies of the same gene rather than to an increase in its rate of transcription. It results from gene duplication that has been repeated many times over, producing from 100 to 1000 copies of the gene.

What are nucleotides examples?

Examples of nucleotides with only one phosphate group:

  • adenosine monophosphate (AMP)
  • guanosine monophosphate (GMP)
  • cytidine monophosphate (CMP)
  • uridine monophosphate (UMP)
  • cyclic adenosine monophosphate (cAMP)
  • cyclic guanosine monophosphate (cGMP)
  • cyclic cytidine monophosphate (cCMP)
  • cyclic uridine monophosphate (cUMP)