CHAPTER 14 SECTION 1 Mutations
Are mutations good or bad? Some mutations lead to genetic disorders Some mutations may cause a beneficial trait Some mutations are silent no effect good or bad. Both!!
What is a Mutation? Mutation Mutation – a change in the structure or amount of the genetic material in an organism A change in the DNA A mutant is an individual whose DNA or chromosomes are different.
What causes mutations? When DNA replicates, mutations occur accidently. DNA polymerase and other enzymes catch some mistakes, but not all Very rare Mutagens – substances that cause DNA to mutate Examples: radiation, UV light, chemical toxins
What are the effects of mutations? Mutations may help, harm, or have no effect. Depends on where the mutation occurs. Depends on how much DNA is affected
Types of Mutations Gene Mutations Affect one gene Chromosome mutations Affect many genes
Point Mutations Point Mutation – a change of a single nucleotide OriginalMutated DNACTTCAT RNAGAAGUA Amino acidGluVal
Silent Mutation Silent Mutation – a mutation that has no effect on a gene’s function Why is this possible? Because the genetic code is so repetitive Silent Mutation DNA ATG CCT TCG A RNA UAC GGA AGC U Amino acidMet Pro Ser Same AA sequence
Missense Mutation Missense Mutation – a mutation that causes the codon to code for a different amino acid AKA – replacement mutation Missense Mutation DNA ATG CCT TCG CAT RNA UAC GGA AGC GUA Amino acidMet Pro Ser Gln
Nonsense Mutation Nonsense mutation – a mutation that causes a codon to change to a STOP codon Causes protein synthesis to stop early. Protein may not function Nonsense Mutation DNA ACG RNA UGC UGA Amino acidStop
Frameshift Mutation Frameshift Mutation – a mutation that causes a shift in the reading frame. Reading frame – the sequence of codons from start to finish Frameshift Mutation DNAATG CCA TCG ATG GCC ATC G RNAUAC GGA AGC UAC CGG UAG C Amino acidMet Pro SerMet Ala Ile
Frameshift Mutation Insertion – adding one or more nucleotides Deletion – removing one or more nucleotides What happens to the reading frame if 3 nucleotides are inserted or deleted?
Chromosomal Mutations Can occur during meiosis (crossing over) Usually the homologous chromosomes exchange equally Sometimes…they do not
Chromosomal Mutations Deletion – a piece of the chromosome is lost Usually harmful X-rays
Chromosomal Mutations Duplication – both pieces remain attached to the same homologous chromosome X-rays
Chromosomal Mutations Inversion – a piece attaches in the opposite direction ABCDEFGHIJKLMNOP X-rays
Chromosomal Mutations Translocation – a piece ends up on a completely different chromosome X-rays
Chromosomal Mutations Gene Rearrangement – an entire gene is moved to another location X-rays
Nondisjunction Nondisjunction – occurs when homologous chromosomes fail to separate One cell ends up with extra chromosomes Down syndrome – extra 21 chromosome Aka – trisomy 21
Are mutations heritable? Mutations are only inherited if the mutation occurs in the gamete (sperm and egg). If a mutation occurs in one of your skin cell, it can affect you, but not your children.