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DNA IS THE INHERITED MATERIAL RESPONSIBLE FOR VARIATION KEY CONCEPTS Chromosomes, genes, and DNA Cell Division Inheritance LEARNING OUTCOMES Describe relationship among chromosomes, genes and DNA, and their role in storing genetic information. Distinguish between cell division during asexual reproduction and cell division during sexual reproduction. Investigate the transmission of characteristics from parents to offspring, and identify patterns of inheritance. Identify examples of dominant and recessive characteristics. DNA IS LANGUAGE Double helix in each of your 100 trillion cells… If you unraveled it, it would be 6 feet long in each of your cells (or about 2 metres)- 1,000,000 times longer than the cell it came from! MADE UP OF A 4 CHARACTER CHEMICAL ALPHABET… That spells out instructions for all proteins of which your body is constructed. Most efficient storage system we know of in the universe. Mapping Human Genome- “Today we are learning the language in which God created life.” HUMAN GENE MAP COMPLETED IN FEBRUARY 2001 Or at least a “first draft”! Estimated that humans have about 30,000 genes. Previously scientists thought we had about 100,000 genes. CONSIDER THE BENGAL TIGER One of the most endangered species on Earth 1900- 40,000... TODAY 4,500 -6,000 Most scientists believe it will disappear unless humans act to prevent its extinction (interesting as humans greatly contributed to possible extinction). A captive breeding program is one important way to save the Bengal tigers (and other species threatened with extinction). Ex Situ VARIATION? Like all sexually reproducing species, their best chance of survival is if there is a lot of variation within the species. Without variation, the species would be unable to survive changes in the environment. With so few Bengal tigers left, how can variation be maintained? THROUGH MAPPING THEIR GENOME Using modern technology, geneticists and zoo staff can analyze the tigers’ genetic material to determine how similar two tigers are. They can even predict the characteristics the cubs are likely to have. Artificial Selection: Scientists will select which characteristics will be passed on through a captive breading program. DNA- TRANSMITTER OF GENETIC CODE REMEMBER… The offspring of a sexually reproducing species are not genetically identical to their parents. However, these offspring do resemble their parents because particular characteristics are passed on from generation to generation. People have used this understanding to produce many different breeds of domestic plants and animals. DOGS The goal of breeding purebred dogs was not variety, but specific, desired characteristics. The result, however, has made Canis familiaris one of the most physically varied species on Earth. DNA Why do the puppies of Chihuahua dogs turn out to be Chihuahuas? Why don’t they turn out to look like Dalmations instead? THE REASON: Is that the Chihuahua parents pass on a “blue print” to their offspring, so that each puppy receives a complete set of instructions for making a Chihuahua dog. Every multicellular organism on Earth contains a blueprint for making a copy of itself in each of its body cells. IMAGINE THE AMOUNT OF INFORMATION THAT MUST BE IN THESE BLUEPRINTS And how many different blueprints there are… one for every kind of life on earth. What could store so much information and pass it along from generation to generation? CANADIAN SCIENTIST OSWALD AVERY Helped to answer this question when he proposed that a large molecule first found in cells’ nuclei is responsible for storing such information and passing it on. DEOXYRIBONUCLEIC ACID Or DNA for short, is the inherited material responsible for variation. All living organisms contain DNA in their cells. If the organism has a nucleus, DNA is found in the nucleus. DNA AND THE GENETIC CODE DNA was first discovered in 1869, but scientists didn’t really know much about it. After analyzing cells of may different organisms, from bacteria to plants and animals, scientists found DNA in all of them. In 1944 Avery confirmed that DNA was the material of inheritance. WATSON AND CRICK Solved a puzzle which was one of the greatest scientific achievements of the last century. They revealed how the same chemical building blocks could carry such a wide range of instructions needed for the diversity we observe in the living world. The DNA molecule can be compared to a ladder that has been twisted into a continuous spiral. G, C, A & T The uprights of the twisted molecular ladder are all identical. The “rungs” vary in composition, and are made up of pairs of 4 different chemicals. Guanine & Cytosine Adenine & Thiamine G ALWAYS pairs with C A ALWAYS pairs with T Therefore, DNA is really made up of 2 strands; one strand has its own base sequence, and the other strand has a complementary base sequence. For example: ATGCGTAATGC TACGCATTACG ...one strand ...complementary strand THE ARRANGEMENT OF THESE 4 CHEMICALS G, C, A & T, forms a code that cells can read. Like the way the 26 letters of our alphabet can be arranged into millions of words. The genetic code is based on arranging the 4 chemical letters into “words” or “instructions” that describe how to make any particular organism. BROWN EYES & BLUE EYES Brown eyes sequence: AAAAGCGCCCGGG Blue eyes sequence: AAATGCGCCCGCG The letters that are in red are the only bases that are different between the two sequences. Genes in general are about 1000 bases long. Therefore, you will see variation in the sequences from individual to individual. The general rule is that individuals that are the same species will have DNA sequences that are very similar. CHROMOSOMES CHROMOSOMES DNA contains all the instructions for an organism’s characteristic features. Because each organism has so many physical and chemical characteristics, there is a lot of DNA in each cell. To fit so much DNA into their cells, organisms arranger their DNA into packages called chromosomes. IN PLANTS & ANIMALS Chromosomes are located inside the cell nucleus. Each human cell nucleus contains 46 chromosomes. Think of a chromosome as a single book in a set of encyclopedias. If you are missing one or more books, you are missing some important information. One chromosome contains only part of the instructions for making a human. All of human nuclei, except for those in the gametes (sperm & egg have 23 chromosomes… you get half the genetic info you need from each parent) must have a complete set of chromosomes. What happens if they don’t? CHROMOSOME ABNORMALITIES Genetic disorders are caused by differences in a person’s genetic material. Sometimes the difference is large and involves entire chromosomes. For example, a person might be born with an extra or missing chromosome, or there might be a large section of a chromosome added, missing, or moved to a different location in the genome. MANY TIMES An embryo with an extra or missing chromosome will not be viable with life and will miscarry, often early in pregnancy before a woman would even know she is pregnant. However, there are some chromosomes that can be missing or extra and be viable with life. DOWN SYNDROME (EXTRA CHROMOSOME 21 EDWARD SYNDROME (EXTRA CHROMOSOME 18) TURNER SYNDROME (MISSING X CHROMOSOME) Because each chromosome holds a different set of genes, the effects of extra/missing chromosomes vary depending on which chromosome is involved. BUBBLE BOY (SEVERE COMBINED IMMUNE DEFICIENCY) LOCATED ON X CHROMOSOME Newborns in Ontario are now among the first in Canada to be screened for Severe Combined Immune Deficiency Syndrome, a genetic disorder often nicknamed “bubble boy disease.” (as of 2013). CHILDREN WITH SCID Have gene mutations that render their immune systems almost useless and make it difficult for them to fight any form of infection. If left undetected, the illness typically leads to death early in life. SCID was nicknamed “bubble boy disease” after a Texas boy named David Vetter was born in 1971 with the condition. He was placed in a plastic bubble within minutes of his birth and lived his whole life in a sterile environment. He died at the age of 12 after a failed bone marrow transplant led to lymphoma. CHROMOSOME NUMBERS VARY FROM SPECIES TO SPECIES. A complete set in humans: 46 or 23 pairs A complete set in dogs: 78 or 39 pairs A complete set in cats: 38 or 19 pairs The composition varies as well. A dog’s chromosomes must contain genetic code that reads “make a tail”. Such differences are the source of diversity from one species to another. GENES GENES (MOST EARLY RESEARCH WAS CONDUCTED ON A FRUIT FLY) Scientists currently believe that genes are responsible for the inheritance of an organism’s characteristic features. A single gene is an uninterrupted segment of DNA, which contains coded information. Genes are located on the chromosomes. Each chromosome contains numerous gene locations. LIKE CHROMOSOMES Genes come in pairs. Both genes in a pair carry DNA instructions for the same thing. (like leg-length in a fruit fly) In a fruit fly, the two leg-length genes occupy matching locations on the two chromosomes, but the DNA code may not be exactly the same in both locations. CHROMOSOMES & GENE PAIRS OFFSPRING INHERIT GENES FROM BOTH PARENTS A fruit fly, for example, inherits one gene for leg length from its mother, and one from its father. The leg-length gene exists in 2 possible forms, long leg or short leg. The wing shape gene also exists in two possible forms, long or dumpy. So the two genes in a particular pair may not be identical (if the fly inherited a short leg gene and a long leg gene for example). ALLELES ALLELES Most genes in most species exist in an array of possible forms that differ as to their exact DNA sequence. These possible forms are known as alleles. CHROMOSOMES, GENES, AND ALLELES ARE LINKED TO INHERITED CHARACTERISTICS. Think of a dog... All dogs belong to the same species, and all ordinary, healthy dogs have a hairy coat. We could begin by thinking that a “hairy coat” is an example of an inherited characteristic. But when we look at dogs, we see many versions of a “hairy coat”. Hair may be straight or curly, long or short, course or fine, and may come in many, many colour combinations. OBSERVING THIS VARIATION WE CAN MAKE 3 INFERENCES 1. We can be pretty sure that “Hairy Coat” is more than just a single characteristic. It must involve a combination of several characteristics. 2. More than one gene pair might be involved in determining a dog’s coat. For example, there could be one gene pair for hair length, one for wavy, etc. 3. There may be several possible alleles for each gene pair. CHECK AND REFLECT Page 45, #s 1, 2, 3, 4, 5 & 7