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CELLULAR BIOLOGY & MENDELIAN GENETICS. Cellular Biology. THE CELL. Smallest functional unit of living organisms Each cell maintains its own homeostasis Each cell contributes to the homeostasis of the tissue, organ and/or organism. THE CELL. All living organisms consist of cells
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THE CELL • Smallest functional unit of living organisms • Each cell maintains its own homeostasis • Each cell contributes to the homeostasis of the tissue, organ and/or organism
THE CELL • All living organisms consist of cells • Humans have trillions of cells (Yeast - one cell) • Cells are of many different types (blood, skin, nerve), but all arose from a single cell (the fertilized egg) • Each cell contains a complete copy of the genome (the program for making the organism), encoded in DNA
SOME DEFINITIONS Chromosomes = made up of a protein core and strands of DNA in the nucleus of a cell (46 chromosomes make up 1 human cell) DNA(deoxyribonucleic acid) = Molecule that carries the genetic code, ladder with rungs made of base pairs (“letters”: A,C, T, G) Codon = Sequence of 3 bases. Each 3-letter word stands for an amino acid. (“word”: “GCA” = Alanine) Genes = Portions of the DNA molecule that code for specific proteins (“sentence”) Protein = chain of amino acids (see p. 54 for protein synthesis) Replication = Copying of genetic code during cell division
The Question of Inheritance • Darwin was very concerned with the question: • How are traits inherited? • Variation within populations was the raw material that powered the evolutionary process • Could not explain, however, the source of this variation or how it was distributed across generations • Towards the end of his life, Darwin admitted that the greatest challenge to his theory was its inability to explain the mechanism of inheritance
Theories of Inheritance During Darwin’s Time • Blending Inheritance • Belief of how inheritance operated: offspring received a combination of all characteristics of each parent through the mixture of their “bloods” • If true, unique traits would be diluted, and… • Individuals would become more uniform If not, how are individual adaptive traits maintained and selected for within populations? Czech monk, Gregor Mendel, working in obscurity, came up with the answer: particulate inheritance
Gregor Johann Mendel (1822 - 1884) • 1865: Mendel published the results of his experiments with garden peas in which he crossed parents and examined offspring, became the “father” of genetics. • Concluded that each parent contributes “particles” or genetic units to their offspring • The particulate nature of inheritance and the laws of inheritance = final pieces in the puzzle that fulfilled Darwin’s vision of evolution by natural selection • Mendel’s contribution DID NOT become knownuntil early in the 20th century
Some Definitions Allele = Variants of a gene. Every gene has 2 alleles with different instructions for developing a certain phenotype Monogenic = Trait coded for by a single gene (ex. Taster trait for “PTC”) Polygenic = Trait coded for by more than one gene (ex. Skin color)
Characteristics of Good Model Organisms Mendel’s work with garden peas was successful because they had: • a well-known genetic history • short generation time • large number of progeny • small size and easy to handle • wide availability of mutants - genetic variation within garden peas
Mendel had true-breeding varieties of peas for 7 different traits including:
One of Mendel’s Monohybrid Crosses • Gametes =Cells of sexual reproduction (sperm & egg), contain only ½ the chromosomes of normal cell • Genotype: alleles of an organism • 1/4 SS : 1/2 Ss : 1/4 ss = • 1 SS : 2 Ss : 1 ss • Phenotype: physical expression of genetic code • 3/4 Smooth seeds : • 1/4 wrinkled seeds
Mendel’s Model • Genes do not blend together • Pea genes have two versions or alleles • Each gamete gets one allele • Males & females contribute equally • Some alleles are dominant, while others are recessive
What Accounts for Species Variation? • Independent Assortment: Alleles segregate into gametes independently (Mendel’s Law) • Crossing Over: Sections of chromosomes switch between chromosome pairs during meiosis • Recombination: Exchange of genetic material between pairs of chromosomes during meiosis