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Erwin Chargaff's Research (1949)
The ratios of adenine (A) to thymine (T) and guanine (G) to cytosine (C) are equal in all organisms, indicating chemical pairings between these bases. Also, the amounts of A, T, C, and G vary by species, indicating that DNA, not protein, might be the genetic material of life.
Rosalind Franklin's Contribution (1952)
Used X-ray diffraction to create Photo 51, demonstrating the double-helix structure of deoxyribonucleic acid.
Watson and Crick's Model (1953)
Formulated an accurate description of DNA's complex, double-helical structure, based on Photo 51 and Chargaff’s rule. They determined that the strands are antiparallel, composed of nucleotides connected with covalent bonds, and that the two strands are connected with weak, hydrogen bonds.
Nucleic Acids
Large molecules that store genetic information (the code) that controls cellular activity and an organism's development, controlling protein synthesis.
DNA (Deoxyribonucleic Acid)
An organic compound with a unique molecular structure that can be thought of as a twisted ladder (double helix). It contains the genetic code and is organized into chromosomes located in the nucleus.
Nucleotide
The monomer of a nucleic acid, consisting of a sugar, a phosphate group, and a nitrogenous base.
Nitrogenous Bases in DNA
Adenine (A), Thymine (T), Guanine (G), and Cytosine (C)
Complementary Base Pairing
A with T (2 hydrogen bonds), and C with G (3 hydrogen bonds)
Importance of DNA
Carries the coded genetic information in each cell, can replicate, indirectly supervises protein manufacture, and controls cell activities.
RNA (Ribonucleic Acid)
Single-stranded, involved in protein synthesis, has ribose sugar, and contains uracil instead of thymine.
Types of RNA
mRNA (messenger RNA), tRNA (transfer RNA), and rRNA (ribosomal RNA)
Function of RNA
Carries instructions from DNA to ribosomes, controlling the synthesis of proteins by assembling amino acids in the correct sequence.
Mitochondrial DNA (mtDNA)
A small, circular piece of DNA found in the matrix of the mitochondrion; it contains the code for the enzymes that control respiration and is inherited maternally.
Endosymbiosis
Theory that mitochondria originated as bacteria that invaded an ancestral eukaryote and developed a symbiotic relationship.
Protein Synthesis
The process of making a chain of amino acids that forms a functional protein, using instructions from the DNA code.
Processes in Protein Synthesis
Transcription (making mRNA from DNA) and Translation (decoding mRNA to assemble amino acids).
Transcription
Making mRNA molecules from DNA; occurs in the nucleus with the help of RNA polymerase.
Translation
Decoding the mRNA and assembling amino acids in the correct order to form a polypeptide; occurs at a ribosome, involving tRNA and codons/anticodons.
Mutation
A random change in the DNA sequence that can affect the protein coded for by the DNA sequence.
Point Mutation
Involves a single base change to the DNA sequence, like substitution, insertion, or deletion.
Frameshift Mutation
Addition or deletion of a nucleotide base, changing the length of the reading frame and potentially altering protein function.
Mutagens
Factors that can cause mutations in DNA, such as UV light, X-ray radiation, mutagenic chemicals, viruses, and microorganisms.
Effects of Mutations
Lethal (harmful, causing death), Neutral (no effect on phenotype), and Beneficial (improving survival chances).
DNA Profiling (DNA Fingerprinting)
Process where a specific DNA pattern (profile) is obtained from a person or sample of bodily tissue, using highly variable, non-coding DNA regions (microsatellites or STRs).
Uses of DNA Profiling
Forensics, paternity testing, identifying casualties, diagnosing inherited disorders, fighting illegal trade, establishing family relations, and matching tissues for organ transplants.
Polymerase Chain Reaction (PCR)
A technique used to amplify (make more copies) small amounts of DNA for extensive analysis.
Chromosomes
Structures made of DNA and proteins (histones) that carry genetic information; they are organized from wound DNA.
Karyotype
A linear arrangement of chromosomes from a cell, arranged from largest to smallest. Somatic cells are diploid (2n), and gametes are haploid (n).
Meiosis
Cell division in reproductive organs to produce gametes with half the number of chromosomes as the parent cell.
Stages of Meiosis
Meiosis 1 (reductive division) and Meiosis 2 (copying or mitotic division).
Crossing Over
The exchange of genetic material between two homologous chromosomes, resulting in recombination of genes; occurs during Prophase 1 of meiosis.
Chromatid
A chromatid refers to either of the two identical copies formed by the replication of a single chromosome.
Bivalent
A bivalent (also referred to as a tetrad) is the association of a pair of homologous chromosomes that physically held together by at least one DNA crossover. This occurs during prophase 1 of meiosis.
Non-disjunction
Failure of homologous chromosomes to segregate properly during Anaphase 1 or 2.
Down Syndrome
Condition caused by an extra copy of chromosome 21 (trisomy 21), leading to altered development and associated characteristics.
Gene Mutations
Random changes in DNA (insertions, deletions, substitutions) that cause variations in genes.
Crossing Over
Swapping of sections of chromosomes in a bivalent during prophase I
Independent/Random Assortment
Homologous pairs of chromosomes line up on the equator; material and paternal versions can be mixed up in the final gametes
Random Fertilization
The traits each gamete has cause every zygote to be unique since any of the numerous male gametes can fertilize any of the female gametes
Genetics
The passing of information from one generation to another, and variation
Gregor Mendel
Founder of genetics; used pea plants as model system to study and create genetics laws
Locus
The location of a gene on chromosome
Genotype
Genetic make-up of a trait
Phenotype
Outward expression (observable characteristic) of the genes
Human Genome Project (HGP)
Identifying all the genes in human DNA, determining the sequences of base pairs, storing information, and improve tools for data analysis
Genetic Diagram
Representation to show how characteristics are inherited by the next generation
Complete Dominance
Allele that is fully expressed in the phenotype of a heterozygous organism
Mendel's Law of Segregation
During meiosis, allele pairs segregate so that the gametes have a single allele for each characteristic
Mendel's Law of Dominance
If two alleles at a locus differ, then the dominant allele determines the organism’s appearance
Mendel's Law of Independent Assortment
The alleles of different genes segregate randomly and independently of one another during gamete formation
Pedigree Charts (Family Trees)
Shows the genotypes and phenotypes of several generations of individuals in a family to predict whether a couple is likely to pass on a genetic disorder/traits
Genetic Counselor
Medical professional trained to use family history to predict the likelihood of traits in future generation and guide prospective parents.
Switched on Genes
Genes that are being expressed/ making proteins
Gonosomes
Gonosomes, or sex chromosomes, are the pair of chromosomes for sex determination
Autosomes
Chromosomes that are not involved in sex determination (non sex chromosomes)
Sex Determining Chromosomes - Humans
In humans and most animals the gonosomes are designated X and Y. The gonosomes in females include two X chromosomes (XX), while males have one X and one Y chromosome (XY).
Y Chromosome
The Y chromosome is very short and has few genes on it other than those responsible for maleness.
Sex-Linked Alleles/ X-Linked Genes
Alleles carried on the differential or non-homologous region of the gonosomes
Continuous Variation
Traits that show large number of intermediate forms and are usually controlled by a large number of alleles not necessarily operating in a strict dominance hierarchy
Polygenic Traits
Traits are determined by the combined effect of more than one pair of genes
Intermediate Expression
Expression when both alleles (which are different) of a gene at a locus are partially expressed and apparent blending can occur in the phenotype
Codominance
For some traits, two alleles can be codominant which is to say, both alleles are expressed in the phenotype of heterozygous individuals.
Pleiotropy
When a single gene is responsible for a variety of traits
Penetrance
The extent to which the genes affect the characteristic
Environment
Influence on variation where chemicals, nutrients, stress, education, disease, etc. can all influence the way genes manage to express themselves
Genetic Engineering
Manipulation of an organism’s genome using biotechnology to change the genetic makeup of cells, including the transfer of genes within and across species boundaries to produce improved or novel organisms.
Biotechnology
The use of biology (and biological processes) to develop new products, methods and organisms intended to improve human health and society
Recombinant DNA
DNA that is not in its original form- a sequence of DNA has been taken and combined with another sequence in a new way.
Genetically Modified Organism (GMO)
Organism whose genome has been modified
Bio-factories
Vector that delivers gene
Recombinant DNA Technology
Beneficial genes are introduced into an organism to create genetically modified organisms
Manufacture of Insulin (Recombinant DNA Technology)
Finding a desirable gene and moving into the cells of another organism using a vector (usually a plasmid)
Transformation of Plants to create GM Crops (Gene Gun Method)
Metal pellets are coated with the desirable DNA/gene of interest and are fired into plant cells
Transformation of Plants to create GM Crops (Recombinant DNA Technology)
The soil bacterium Agrobacterium tumefaciens is used to insert the gene of interest into plant cells
Transgenic Animals
Having an altered genome by the introduction of a gene (or genes) from another species
Sheep Dolly
Cloned animal
Importance of Transgenic Animals
To study diseases, for pharming, and for improving livestock
Gene Therapy
Genetic engineering technique that is used for correcting defective genes responsible for disease development
Somatic Cell Nuclear Transfer (SCNT)
Procedure used to clone animals by isolating and extracting somatic cell and inserting into enucleated egg cell and using electricity to fuse the new nucleus
Polyploidy
Genetic engineering that occurs at the chromosome level by inducing polyploidy in plants
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeat)
Allows researchers to permanently modify genes and can be used in many applications
Artificial Selection (Selective Breeding)
Farmers chose cattle with beneficial traits such as larger body size or high milk production, and made the individuals with the trait breed
Hybrid Vigour
Increased function of any biological quality in a hybrid offspring due to offspring produced from dissimilar individuals (through sexual reproduction) who are genetically superior to their parents