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Insertions can be particularly hazardous if they occur in an exon, the amino acid coding region of a gene. A frameshift mutation, an alteration in the normal reading frame of a gene, results if the number of inserted nucleotides is not divisible by three, i.e., the number of nucleotides per codon. Frameshift mutations will alter all the amino ...
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene .
A gene insert change can be expressed in a large variety of ends. These variants can range from the loss, or gain, of protein function to changes in physical structure i.e., hair, or eye, color. The goal of changes in expression are focused on a gain of function in proteins for regulation [ 2 ] or to termination of cellular function for ...
This gene duplication has created a copy number variation. The chromosome now has two copies of this section of DNA, rather than one. Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. [1]
A bacterial DNA transposon. A transposable element (TE), also transposon, or jumping gene, is a type of mobile genetic element, a nucleic acid sequence in DNA that can change its position within a genome, sometimes creating or reversing mutations and altering the cell's genetic identity and genome size.
If a gene duplication is preserved, the most likely fate is that random mutations in one duplicate gene copy will eventually cause the gene to become non-functional . [3] Such non-functional remnants of genes, with detectable sequence homology , can sometimes still be found in genomes and are called pseudogenes .
Replication processes permit copying a single DNA double helix into two DNA helices, which are divided into the daughter cells at mitosis. The major enzymatic functions carried out at the replication fork are well conserved from prokaryotes to eukaryotes , but the replication machinery in eukaryotic DNA replication is a much larger complex ...
Hypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene are a rare genetic cause of hypertrophic cardiomyopathy. A recent study has indicated that a frameshift mutation (c ...