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Location of Genes and Gene Expression Location of Genes in Cells • Genes are located on chromosomes • Geneticists use maps to describe the location of genes • Various types including Cytogenetic and Molecular, maps. • Cytogenetic: • Based on the distinct pattern of bands created when chromosomes are stained with dyes Cytogenetic map...1 • Based on the distinct pattern of bands created when chromosomes are stained with dyes • Describes the position of a gene on a specific stained chromosome • Cytogenetic maps indicate the chromosome the gene is located on, either 1 – 22 or X and Y • The arm of the chromosome, relative to the position of the centromere • Either p (short arm)or q (long arm) • Position of the gene on either arm – For example: 14q21 represents position 21 on the long arm of chromosome 14. – 14q21 is closer to the centromere than 14q22 Cytogenetic map...2 Abbreviations used in cytogenetic maps • ‘Cen’ or ‘ter’ are also used to describe a gene’s cytogenetic location – ‘Cen’ indicates that the gene is very close to the centromere – ‘Ter’ stands for terminus, which indicates that the gene is very close to the end of either the p or q arm • For example – 16pcen : means short arm of chromosome 16 near the centromere – 14qter : means tip of the long arm of chromosome 14 • ‘Tel’ is also sometimes used to describe a gene’s location – ‘Tel’ stands for telomeres, which are at the ends of each chromosome – The abbreviations ‘tel’ and ‘ter’ refer to the same location Cytogenetic map...3 • Example: –What does the cytogenetic map 21q13 indicate? –This gene is located on position 13 of the long arm of chromosome 21 Molecular location...1 • Based on research conducted by the Human Genome Project and completed in 2003 • Utilizes the sequence of base pairs for each human chromosome • A molecular address pinpoints the location of a gene in terms of base pairs – It describes the gene’s exact position on a chromosome and indicates the size of the gene • Knowing the molecular location enables researchers determine exactly how far a gene is from other genes on the same chromosome Molecular location...2 • For example – the APOE gene, (according to the National Centre for Biology, US) on chromosome 19 begins with base pair 50 100 901 and ends with base pair 50 104 489 – The size of this gene is 3 588 base pairs Gene Expression and Environmental Influences...1 • • • • • Gene expression: process of turning genes on and off All cells have the same genetic information Each cell expresses, or turns on, only a fraction of its genes The rest of the genes are repressed, or turned off Gene regulation is an important part of normal development. • Genes are turned on and off in different patterns during development to make a brain cell look and act different from a liver cell or a muscle cell • Gene regulation allows cells to react quickly to changes in their environments Gene Expression and Environmental Influences...2 • Gene regulation can occur at any point during gene expression, but most commonly occurs at the level of transcription – the information in a gene’s DNA is transferred to mRNA – genetic information always goes from DNA to RNA to protein – a given cell only transcribes a specific set of genes and not others • Signals from the environment or from other cells activate proteins called transcription factors – These proteins bind to regulatory regions of a gene and increase or decrease the level of transcription – By controlling the level of transcription, this process can determine the amount of protein product that is made by a gene at any given time – These include • drugs and chemicals • Temperature and light • Physiology, i.e. is the presence of androgens or estrogens Questions??