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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 ...
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 ...
This rate is two orders of magnitude greater than the spontaneous rate of point mutation per nucleotide site in this species. [19] Older (indirect) studies reported locus-specific duplication rates in bacteria, Drosophila , and humans ranging from 10 −3 to 10 −7 /gene/generation.
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 .
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]
This expands the replication region with newly inserted nucleotides. The template and the daughter strand can no longer pair correctly. [4] Nucleotide excision repair proteins are mobilized to this area where one likely outcome is the expansion of nucleotides in the template strand while the other is the absence of nucleotides.
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.
The Crick, Brenner et al. experiment (1961) was a scientific experiment performed by Francis Crick, Sydney Brenner, Leslie Barnett and R.J. Watts-Tobin. It was a key experiment in the development of what is now known as molecular biology and led to a publication entitled "The General Nature of the Genetic Code for Proteins" and according to the historian of Science Horace Judson is "regarded ...