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This article explores the types of genetic mutations, such as point mutations and chromosomal mutations, their effects on gene expression, and the regulation of gene expression in both prokaryotic and eukaryotic organisms.
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12.4 Mutations • Changes in the genetic material • Mistake in copying, carcinogens • Single gene = gene mutation • Entire chromosome = chromosomal mutation
Gene Mutations • Changes in a single gene
Point Mutations • Changes in 1 or a few nucleotides • Substitutions – affect no more than a single amino acid
Frameshift Mutations • Insertions and deletions • They shift the reading frame of the genetic message… remember bases are read in groups of three • Entire protein can be ruined
Chromosomal Mutations • Changes in the number or structure of chromosomes • Can change locations of genes on chromosomes or number of copies of some genes
Are mutations harmful? • Most have little to no effect on gene expression or protein function • Some harmful…genetic disorders • Source of genetic variability in species • Polyploidy – set of chromosomes does not separate (nondisjunction)
12.5 Gene Regulation • Expressed gene is one that is transcribed into RNA • Regulatory site is where other proteins binding to the DNA can regulate transcription • Promoter is the RNA polymerase binding site • Operon is a group of genes that operate together
Differentiation • Cells become specialized in structure and function • Hox genes-control differentiation of cells and tissues in the embryo