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Genes and Genomes Learning Targets • • • • • • • • A gene is a heritable factor that consists of a length of DNA and influences a specific characteristic A gene occupies a specific position on a chromosome The various specific forms of a gene are alleles Alleles differ from each other by one or only a few bases New alleles are formed by mutation The genome is the whole of the genetic information of an organism The entire base sequence of human genes was sequenced in the Human Genome Project Sickle cell anemia can be caused by a base substitution mutation. This mutation in turn changes the resulting mRNA and polypeptide sequence in hemoglobin. • Humans and other species have different numbers of genes • Use of a database to determine differences in the base sequence of a gene in two species • Comparison of genome size in T2 phage, Escherichia coli, Drosophila melanogaster, Homo sapiens and Paris japonica. What are genes? A gene is a heritable factor that consists of a length of DNA and influences a specific characteristic A gene occupies a specific position on a chromosome, called its locus (plural loci) Basically, a gene is simply a specific segment of a DNA strand that codes for a specific trait or function Human Genome Project • Started in 1990, it was an international, publicly funded effort to map the entire human genome • Set the stage for an unprecedented number of advances in genetics, with impacts in human health, biotechnology, evolution and many other fields Comparing genes This is a comparison of the COX1 gene in a mouse, a human, a fly, and a yeast. COX1 codes for the cytochrome c oxidase protein enzyme that is essential for the ability of mitochondria to get energy out of glucose. This is just a snapshot of a comparison of bases 6640 to 6770 What do you notice? Would you expect large differences in the COX1 sequence among these organisms? Why or why not? Comparing genes Would you expect large differences in the COX1 sequence among these organisms? Why or why not? Find the genome size for a variety of organisms. Human Chromosomes: Homologous Pairs Chromosomes are condensed segments of DNA that are composed of several hundred to a few thousand genes. Karyograms are pictures of chromosomes from late prophase. Each chromosome in the picture are in their duplicated state. The karyograms are organized from largest chromosomes to smallest. Homologous Pairs: many species have two sets of chromosomes, one from each parent - paternal and maternal. A cell that has homologous pairs is called a diploid cell. A cell that only has one set is called haploid. Paternal Maternal These are each duplicated chromosomes. Therefore, this individual has two duplicated “Number 16” chromosomes, with two sister chromatids each. Genes and Alleles • Alleles are different forms of the same gene, inherited from each parent. • For example, purple and white are two different forms of the flower color gene in some flowering plants. • Alleles may differ from each other by only a few base pairs. Remember the rock pocket mice? 4:34. A locus is the actual physical location of an allele on its chromosome (pl. loci). New Alleles form by mutation Sickle Cell Anemia • Most common genetic disease in the world • Sickle cell anemia can be caused by a base substitution mutation in the gene that codes for the alphaglobin polypeptide in hemoglobin. Specifically, the sixth codon from changes GAG to GTG. When this is eventually translated, the sixth amino acid changes from glutamic acid to valine. • This changes the shape of the red blood cells to a rigid sickle shape. • The sickle shaped cells can get caught in capillaries and cause vascular damage as well as reducing circulation. HBB gene’s locus is on the short arm of chromosome 11 at position 15.5