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Mutations
Mutations

... D. Regulation and Development- especially important in shaping the way a complex organism develops from single fertilized cell. 1. Hox genes- controls organs and tissues that develop in various parts of the embryo a. Mutation in one of these “master control genes” can completely change organs that ...
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flyer

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Genes and Mutations 1. Define: Genetics – Genetics may be defined

... the amino acid sequence the gene is encoding because the genetic code is redundant (several different codons encode the same amino acid). A single substitution occurring in the middle part of a gene will influence only one codon, so will potentially change only one amino acid. The addition or deleti ...
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Affymetrix Resequencing Arrays
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mutation PP
mutation PP

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Frameshift mutation



A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein. A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted. A frameshift mutation will in general cause the reading of the codons after the mutation to code for different amino acids. The frameshift mutation will also alter the first stop codon (""UAA"", ""UGA"" or ""UAG"") encountered in the sequence. The polypeptide being created could be abnormally short or abnormally long, and will most likely not be functional.Frameshift mutations are apparent in severe genetic diseases such as Tay-Sachs disease and Cystic Fibrosis; they increase susceptibility to certain cancers and classes of familial hypercholesterolaemia; in 1997, a frameshift mutation was linked to resistance to infection by the HIV retrovirus. Frameshift mutations have been proposed as a source of biological novelty, as with the alleged creation of nylonase, however, this interpretation is controversial. A study by Negoro et al (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the catalytic cleft of an ancestral esterase amplified Ald-hydrolytic activity.
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