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Mendelian Basics

tabCells are the smallest unit of life other than viruses, which technically aren’t alive. Often they are the building blocks for larger, multicellular organisms. In animals, each cell contains a nucleus. Nuclei (more than one nucleus) are the “brains” of the cell. Cells also contain other organelles, or parts, such as mitochondria (the “stomachs”) and ribosomes (the “factory” of the cell which makes chemicals the cell needs to live). Inside the nucleus is all the genetic information the cell needs to exists and to reproduce.

Mitochondria

Muscle cell mitochondria
Copyright Dennis Kunkel

tabIn most types of cells, genetic information is organized into structures called chromosomes. Under electron microscopes, chromosomes have the shape of the letter X. Sometimes, though, they look like the letter Y (as in human males). The general rule is that the more chromosomes a species has, the more developed it is. Fruit flies, for example, only have four chromosomes while humans have 46. Chromosomes work in pairs; therefore, each human cell has 23 pairs of chromosomes. In each pair, one comes from the male parent and one from the female. Each chromosome contains hundreds, sometimes thousands, of smaller pieces of information called genes.

Chromosomes

Pairs of human chromosomes
Image provided courtesy of Applied Imaging


tabGenes determine the unique characteristics or traits an organism will have. Animals with the gene for shaggy fur will have shaggy fur, and humans with the gene for blue eyes will have blue eyes. Each human being has thousands of traits determined by his/her genes. Chemically speaking, each gene is the blueprint for a specific type of protein in the body. Proteins are important because they do so many functions in cells and in the human body. Proteins are made of smaller units called amino acids.

tabThere are 20 types of amino acids. Different combinations and numbers of these amino acids make different types of proteins. That means that one protein may only have four amino acids while another has 20; or two proteins may both have 20 amino acids but they’re in a different order in each protein. Each amino acid is made up of three nucleotide bases found in DNA.

DNA

DNA Double Helix


tabDNA is shaped like a coiled ladder called a double helix. DNA, or deoxyribonucleic acid, is made up of four nitrogen bases called nucleotides, and a “backbone” made of deoxyribose sugar. The four bases are adenine (A), guanine (G), cytosine (C), and thymine (T). These four bases bond to make the rungs of the spiral ladder, but there are rules: T always bonds with A (and visa versa) and C always bonds with G (and vice versa). T will never bond with C or G, nor will A. When three of these bases are “read” in order, they form an mRNA codon through transcription. Like their name suggests, codons are a special code to make an amino acid. There are 64 possible codons. Since there are only 20 amino acids, many codons code for the same amino acids. Some codons are also used to mark the beginning and end of a protein. The codon that codes for the amino acid methionine also functions as an initiator codon or beginner of a protein sequence. The codons at the end of the sequence are called terminators.

bases

Clockwise from upper left: thymidine, guanidine, cytidine, and uridine
By permission Florida State University


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