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DNA: Blueprint for Life DNA is a long molecule called Deoxyribonucleic Acid DNA is a code There are 2 types of code. The first type is: a set of symbols used to communicate Examples of codes: The English alphabet Hebrew alphabet Greek alphabet Russian (Cyrillic) alphabet Chinese alphabet Arabic alphabet Egyptian Hieroglyphics Mathematics π 0 1 2 3 4 5 6 7 8 9 Morse Code bar codes Music Body Language Braille Sign Language Referee Signals International Signs Company Logos Codes can also be: password a set of instructions Pollard Code of Conduct dress code Lego instructions zip code 02492 telephone number computer code locker combination blueprints origami DNA is both a set of symbols used to communicate AND a set of instructions DNA DNA is a gigantic molecule made up of millions of these smaller molecules: Sugar(deoxyribos e) Nitrogen bases Adenine (A) Thymine (T) Guanine (G) (C) Cytosine (C) A nucleotide is the “building block” of the DNA strand. It contains: • 1 sugar P nitrogen • 1 phosphate • 1 nitrogen base (either Adenine, Cytosine, Guanine or Thymine) The DNA molecule’s shape is a twisted ladder, or double helix. S NB Nucleotide P S Sugar phosphate backbone NB Millions of nucleotides bond together to form a DNA molecule. The shape of the DNA molecule is a double helix, or twisted ladder. See how the DNA molecule looks like a ladder? DNA “Ladder” The sugar and phosphate molecules form the sides or backbone of the ladder. C P The DNA molecule is held together in the middle by weak hydrogen bonds between the nitrogen base pairs. DNA structure S S P T P The nitrogen bases form the “rungs” of the ladder. G A S S P G P C S S P A P T S S P C P G S S P A P S T S P 4 different bases C CYTOSINE A ADENINE G GUANINE T THYMINE Guanine only bonds with Cytosine DNA Structure Adenine only bonds with Thymine What’s Where? What’s Where? cell nucleus chromosome gene Chromosomes, Genes and DNA Diagram and photograph of a chromosome. Human chromosome set from a skin cell. • Chromosomes are long strands of DNA. • Humans have 46 chromosomes in every body cell. • Genes are sections of chromosomes. Humans have around 25,000 genes in every cell. DNA SONG We love DNA Made of nucleotides, Sugar, phosphate, and a base Bonded down the sides. Adenine and thymine Make a lovely pair. Cytosine without guanine Would feel very bare. Oh-h-h, de-ox-y-ri-bo Nu-u-cle-ic acid. DNA Song #2 RNA is ri-i-bo Nu-u-cle-ic acid. DNA Rap Winners of the Race to Learn DNA’s Structure -Watson and Crick in 1953 with their model of DNA Watson and Crick Bob Watson Francis Crick Rosalind Franklin Rosalind Franklin was a young British scientist whose experiments in X-ray crystallography at King’s College London were essential to the discovery of DNA’s double helix shape by James Watson and Francis Crick in 1953. Franklin was cheated of deserved recognition by her early death from cancer, at the age of 38, in 1958. Nobel prizes are never awarded posthumously; when Watson, Crick and Wilkins got their awards in 1962, she was therefore ineligible, even though Watson & Crick owed much of their success to her work. Some fascinating facts about DNA… a single DNA molecule is made of 240 billion atoms (a water molecule is made of 3 atoms). Each chromosome is a single DNA molecule about 2 inches long. If you unraveled all the DNA is one cell, it would measure 7 to 8 feet. 99.9% of all human DNA is the same; only 0.1% is different in each person. There are 3 billion nitrogen base pairs in one DNA molecule. DNA Replication Step 1 The DNA molecule “unzips” down the middle. Step 2 Unattached nucleotides, floating in the nucleus, attach themselves to the two “half-ladders”, making…. Step 3 2 identical DNA molecules DNA Replication 1) The DNA unwinds and separates down the middle (“unzips”) 2) Nucleotides floating in the nucleus attach to the 2 open sides. A -- T, C -- G 3) There are now 2 identical DNA molecules. Protein Synthesis The nitrogen bases (A, G, C, T) make up DNA’s code. The bases are read in groups of 3. A group of 3 bases is called a codon. Each codon stands for 1 of the 20 amino acids. There are also codes for “Stop”. Amino Acids • Amino acids are the building blocks of proteins. • A protein is a large molecule made of many amino acids bonded together in a certain order. • Proteins: carry out all cell functions give an organism its traits. Amino Acid Alanine (ala) Arginine (arg) Asparagine (asp) Aspartic Acid (asa) Cysteine (cys) Glutamic Acid (glu) Glutamine (gin) Glycine (gly) Histidine (his) Isoleucine (ile) Leucine (leu) Lysine (lys) Methionine (met) Phenylalanine (phe) Proline (pro) Serine (ser) Threonine (thr) Tryptophan (trp) Tyrosine (try) Valine (val) Stop codons A picture is worth a 1000 words…. DNA Bases Base G C A A G T A C C T G A A C C T G A T pairs G Codons Amino Amino acids acids G C A A G T codon codon codon codon amino acid amino acid amino acid amino acid amino acid amino acid amino acid Protein amino acid Some Genetics Numbers Some Genetics Numbers in one human cell in one human cell there are… there are… 3 billion base pairs 3 billion base pairs 1 billion codons 1 billion codons 25, 000 genes 25, 000 genes 46 chromosomes 46 chromosomes 7 feet of DNA 7 feet of DNA Number of people on Earth: 6.6 billion Number of people on Earth: 7.05 billion Number of people with exactly your DNA ….1 Number of people with exactly your DNA ….1 YOU !!! YOU !!! GENES BY THE NUMBERS Even though all the cells in the body contain the exact same genes, the genes that are “turned on” in each cell vary depending on the cell’s function. These are the numbers of working genes in different parts of the body. Brain 3195 White blood cell 2164 Liver 2091 Heart 1195 Pancreas 1094 Bone 904 Colon 879 Skeletal muscle 735 Kidney 712 Skin 629 Thyroid Gland 584 Eye 547 Small Intestine 297 Smooth muscle 127 Esophagus 76 Red blood cell 8 Mutation Accidents Happen, With Some “Accidents” (Base Mismatches) Leading to Mutation A mutation is a change in DNA sequence. Mutations due to replication errors only happen once in every trillion replicated nucleotides. There are 3 types of base-pair mutation: 1. A base pair is dropped (DELETION) Example: CCCTTT becomes CC TTT Base-pair mutations 2. A base pair is added (INSERTION) Example: CCCTTT becomes CCCGTTT Base-pair mutations 3. A base pair is switched (SUBSTITUTION) Example: CCCTTT becomes CCATTT Hemoglobin mutation A substitution in one base causes a change in one amino acid, which changes the hemoglobin protein enough to cause sickle cell anemia. Mutations • Mutations happen all the time, in every species. • Mutations are usually harmful or neutral --mutations are rarely beneficial. • Mutations can cause cancer & some diseases (bad). • Mutations are the only way to bring new genes (traits) into a species (good for evolution). So, just like Goldilocks – not too hot, not too cold, just right – the optimal rate of new mutation is a balancing act. Causes of Mutation Environmental factors such as 1.UV (ultraviolet) light (sunshine) 2.nuclear radiation 3.certain chemicals Biohazard (mutagenic chemicals) 4. Copying errors Mistakes during DNA replication Nuclear radiation Chromosomal Alterations Sometimes mutations occur to an entire chromosome, affecting the structure of the chromosome. Chromosomal Alterations Sometimes mutations affect the number of chromosomes (an entire chromosome is missing, or there is an extra chromosome). Down syndrome, or Trisomy 21 Patau syndrome, or Trisomy 13 Mitochondrial DNA Did you know that, in addition to the DNA in the cell nucleus, your cells also have DNA in their mitochondria? Mitochondrial DNA • 37 genes • inherited from your mother, since usually only the egg contains mitochondria (the sperm’s mitochondria are in its tail, which falls off after fertilization) •13 of the genes give instructions for cellular respiration • the rest give instructions for making transfer RNA (tRNA) and ribosomal RNA (rRNA) Mitochondrial DNA DNA in chloroplasts chloroplast Chloroplast genome in a liverwort Learn more about it DNA in a chloroplast karyotype Karyotype: a picture of all 46 of a person’s chromosomes, arranged in 23 pairs. However, the 23rd pair of chromosomes do not look alike at all. Note that 22 of the 23 pairs of chromosomes are the same size, and have the same banding patterns. The first 22 pairs of chromosomes are called “autosomal.” The 23rd pair of chromosomes are called the sex chromosomes, or X and Y chromosomes. Make a karyotype How scientists read chromosomes X and Y Chromosomes The 23rd pair of chromosomes in humans determines a person’s gender. A female has two X chromosomes; a male has 1 X and 1 Y chromosome. Female: XX Male: XY X chromosome is much larger than the Y chromosome. Gender Determination egg girl X X boy Y Which of these karyotypes shows a male, and which shows a female? A B Genetic abnormalities of the XY Chromosomes Klinefelter Syndrome XYY syndrome Triple X syndrome Turner Syndrome