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DNA 3 billion base pairs long! Genes Small sections of your DNA Chromatin DNA wrapped around histone protein; loose, tangled Chromosomes •DNA wrapped around histone protein, tightly packed and organized •Chromatin makes up chromosomes 46 chromosomes (23 pairs) in humans IN HUMANS… Full set of DNA is 46 chromosomes! (23 pairs) Full set in somatic cells NOT sex cells DNA codes for protein. Influences appearance Involved in bodily processes Involved in bodily repair DNA is found in the nucleus of eukaryotes DNA is not always perfect… Mutations can occur What do you think about when you hear genetic mutation? MUTATIONS NOT all mutations have a negative influence! can be beneficial (positive)! may be neutral; neither negative or positive MUTATION Overview: Gene mutation Point mutation Frame shift mutation Chromosomal mutation GENE MUTATION A gene mutation is a permanent change in the DNA sequence that makes up a gene. Gene mutations range in size: from a single DNA base to a larger segment POINT MUTATIONS A single base pair in DNA has been changed. three types of point mutations: Substitution Insertion Deletion SUBSTITUTION Normal DNA sequence and resulting Amino Acid sequence: DNA: TACGCATGGAAA RNA: AUGCGUACCUUU AA: Met-Arg-Thr-Phe Substitution Mutation: Original DNA: TACGCATGGAAA DNA with substitution mutation: TACGTATGGAAA o What is the Amino Acid sequence? o Met- His- Thr-Phe INSERTION Normal DNA sequence and resulting Amino Acid sequence: DNA: TACGCATGGAAA RNA: AUGCGUACCUUU AA: Met-Arg-Thr-Phe Insertion Mutation: Original DNA: TACGCATGGAAA DNA with Insertion mutation: TACAGCATGGAAA o What is the Amino Acid sequence? o Met- Ser- Tyr- Leu DELETION Normal DNA sequence and resulting Amino Acid sequence: DNA: TACGCATGGAAA RNA: AUGCGUACCUUU AA: Met-Arg-Thr-Phe Deletion Mutation: Original DNA: TACGCATGGAAA DNA with deletion mutation: TACCATGGAAA o What is the Amino Acid sequence? o Met-Val- Pro FRAME SHIFT MUTATION Insertions and deletions are also called frame shift mutations the mutation shifts the “reading frame” 1codon, 1 reading frame shift can change every amino acid that follows the mutation FRAMESHIFT MUTATION CHROMOSOMAL MUTATION Chromosomes come in pairs Where do the pairs come from? Each cell of in organism have the same number of chromosomes, except the sex cells Size and number of chromosomes vary among species. Ex. Camel- 70 chromosomes, squirrel-40 chromosomes, bat- 44 chromosomes, house fly- 12 chromosomes, rice24 chromosomes http://morgan.rutgers.edu/MorganWebFrames/Level1/Page2/ChromNum.html CHROMOSOMAL MUTATIONS Autosomes 1-22, Sex chromosomes pair 23 Chromosomes ordered in Karyotype by size, paired using size, centromere position, banding pattern Below depicts a normal female and male karyotype. CHROMOSOMAL MUTATIONS Occurs due to: nondisjunction Down syndrome (trisomy 21) Patau syndrome (trisomy 13) Edward's syndrome (trisomy 18) Nondisjunction of the sex chromosomes (X or Y chromosome) Klinefelter syndrome: XXY males, XYY males, Trisomy X: XXX females, Monosomy X (Turner's syndrome) the only viable monosomy in humans - women with Turner's have only 45 chromosomes!!! CHROMOSOMAL MUTATION: STRUCTURAL CHANGES CHROMOSOMAL MUTATION: PIECES Karyotype 46,XX,del(6)(q24 to qatar) showing deletion Gene Mutation That Causes Rare Form of Deafness Identified ScienceDaily (July 13, 2010) mutation in the DIAPH3 gene that causes over-production of a compound known as a diaphanous protein GENETIC MUTATIONS IN THE WORLD Syndactyl/Ectodactyl, polydactyl Myostatin gene, vitiligo MUTATION AND CELL CYCLE… Cell cycle is a regulated process Cell cycle involves cell division Most of the cells in our body go through cell division Mutations to certain genes that regulate the cell cycle can cause problems