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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 Chromosomal Mutations 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 Eukaryotic Gene Expression Differentiation • Cells become specialized in structure and function • Hox genes-control differentiation of cells and tissues in the embryo