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Chapter 5
Mendels Investigations
Gregor Mendel was the first to closely examine principles of heredity. Mendel chose peas to study inheritance because they possess several contrasting traits without intermediates.
Mendels Investigations
Mendel was not aware of the existence of chromosomes or genes. It is easier to get the big picture of heredity by combining Mendels results with what we know about chromosomes.
Meiosis
Meiosis is the special type of cell division that produces eggs and sperm. In meiosis, a diploid cell with two sets of homologous chromosomes will divide so that the daughter cells are haploid and have one set of chromosomes.
Meiosis
Chromosomes have replicated during interphase just as in mitosis. Meiosis actually consists of two separate divisions.
Meiosis I serves to separate the two versions of the chromosome (homologues). Meiosis II serves to separate the two replicas of each version (sister chromatids).
Meiosis
Because there is only one replication of DNA but two cell divisions, each of the four daughter cells is haploid has only one set of chromosomes.
Fertilization
Fertilization
Union
Meiosis I
The 2 versions of each chromosome pair up and exchange segments. This is called crossing over. Late in prophase, the nuclear envelope disappears.
Meiosis I
Metaphase I Spindle apparatus forms. Chromosomes line up in the middle.
Which chromosome faces which pole is random. This is called independent assortment.
Meiosis I
Telophase I the chromosomes gather at the two poles and wait for the onset of meiosis II.
Meiosis II
After a brief interphase in which NO DNA synthesis occurs, meiosis II begins. Meiosis II is just like mitosis except that the sister chromatids are no longer identical due to crossing over.
Meiosis II
Prophase II nuclear envelopes break down as a new spindle forms. Metaphase II chromosomes line up in the middle of the cell and spindle fibers bind to both sides of the centromeres.
Meiosis II
Anaphase II spindle fibers contract splitting the centromeres and moving the sister chromatids to opposite poles. Telophase II The nuclear envelope reforms around the four sets of daughter chromosomes.
Meiosis II
The resulting 4 daughter cells are haploid. No 2 cells are alike due to crossing over. In animals, these cells develop directly into gametes (eggs & sperm). In plants, fungi & many protists they divide mitotically to produce greater numbers of gametes.
Meiosis Review
http://www.youtube.com/watch?v=D1_-mQS_FZ0&list=FL9N_Px072WuVorSwDfqf-9w&index=55&feature=plpp_video
Sex Determination
Autosomes chromosomes present in both sexes, do not influence sex. In humans, females have 2 X chromosomes, while males have and X and a Y.
Sex Determination
Some species have XX females and X males. Others have ZZ males and ZW females. In others, sex is determined environmentally.
Mendels Laws
Mendels experiments with garden peas resulted in his two laws of inheritance.
Law of segregation Law of independent assortment
Mendels Peas
E.g. self-fertilized white flowered parents always produced white flowered offspring.
Mendels Peas
He could cross true breeding white with true breeding purple this is the parental generation. Resulting in all purple offspring this is the F1 generation.
Mendels Peas
Allowing the hybrid F1 generation to self pollinate gives the F2 generation with 3 purple: 1 white offspring. He kept careful quantitative records that allowed him to find patterns.
Mendels explanation of the 3:1 ratio of purple (dominant) to white (recessive) flowers resulted in the Law of Segregation.
Two versions of the flower color gene are purple & white. We now call these versions alleles.
For each character, an organism inherits two alleles, one from each parent.
If there are two different alleles present only one of them the dominant allele determines the appearance.
Mendels Law of Segregation the two alleles for a heritable character separate during gamete formation and end up in different gametes.
Each egg or sperm will contain either one of the two alleles, but not both!
Genetic Terms
Genetic Terms
PP, Pp, pp
Genetic Terms
Monohybrid cross crossing two individuals that are heterozygous for one particular trait.
Pp X Pp
Dihybrid cross crossing two individuals that are both heterozygous for two separate traits.
YyTt X YyTt
The Testcross
Given a purple flowered pea plant with unknown parents, we will cross it to a homozygous recessive (white) individual to determine its genotype.
Cross true-breeding yellow, tall (YYTT) with true-breeding green, short (yytt) to get F1 individuals that are dihybrids (het for both traits YyTt).
Each pair of alleles separates independently of other pairs during gamete formation.
Complexities
Mendel was fortunate to have chosen a simple system for study. In reality, there are a number of complicating factors.
Codominance occurs when both alleles affect the phenotype in separate, distinguishable ways.
Both phenotypes are expressed. Not an intermediate. AB blood types
In incomplete dominance, the phenotype of a heterozygote appears to be intermediate to, or distinct from, the homozygous dominant and homozygous recessive conditions.
Multiple Alleles
i I AI A, I A i I BI B, I B i I AI B ii
Pleiotropy
Pleiotropy is a property where a gene has more than one effect on the phenotype of an organism.
The gene that causes sickle cell disease also conveys some resistance to malaria.
Epistasis
Epistasis (from the Greek word for stopping) one gene can alter the phenotypic expression of another gene.
Polygenetic Inheritance
Polygenetic inheritance - Some traits have more than one gene contributing to a phenotype like skin color in humans.
Environmental Effects
Exposure to sunlight affects skin color in humans. Nutrition affects height in humans. Soil acidity affects color in hydrangea flowers.
Sex-Linked Genes
Genes located on the sex chromosomes (X or Y usually X) are called sex-linked genes.
Fathers pass on a sex-linked genes only to daughters (sons only receive the Y).
Sex-Linked Genes
Experimental Evidence
T.H. Morgans experiments provided the first evidence of the association between a specific gene & chromosome.
Experimental Evidence
White eyes in fruit flies are recessive to red eyes. White eyes found only in males in F2 Eye color gene located on X chromosome.
Autosomal Linkage
Black rather than grey bodies Vestigial rather than normal size wings Grey, normal wings Black, vestigial wings
Parental phenotypes:
Some non-parental phenotypes were produced. Genetic recombination Crossing over explains how this happens.
Linkage Mapping
A genetic map of the sequence of genes on a chromosome can be made using the frequency of recombination data for a number of traits.
Crossing over more likely to separate genes that are further apart.
Errors in meiosis or mitosis may lead to one extra or one less chromosome.
If the organism survives, it usually has symptoms relating to the increase or decrease in proteins coded for by the extra (or missing) chromosome.
Triploid 3 sets Tetraploid 4 sets Common in plants Having an entire extra set is not as detrimental as having one extra chromosome.
Genes
Gene
gene product
phenotypic expression
Beadle & Tatums experiments using bread mold led to the idea that one gene produces one enzyme. Todays version: a nucleic acid sequence (usually DNA) that encodes a functional polypeptide or RNA sequence.
Nucleic Acids
Nitrogenous Bases
Nitrogenous Bases
DNA
The phosphate group and sugar make up the backbone of the DNA molecule.
DNA
The 5' end of each strand has a free phosphate group attached to the 5' carbon of the pentose sugar. The 3' end has a free hydroxyl group attached to the 3' carbon of the pentose sugar.
DNA
A=T C=G
DNA
DNA synthesis occurs in the 5' to 3' direction in both strands. The DNA strands are antiparallel
5' end of one is associated with the 3' end of the other.
RNA
DNA Replication
DNA must replicate itself prior to cell division. Enzymes are responsible for each step of replication, including proofreading. The helix unwinds, separates, and each half acts as a template for the formation of a new complementary strand.
Gene Expression
Gene expression the use of information in DNA to direct the production of particular proteins.
Transcription first stage of gene expression. A messenger RNA (mRNA) is synthesized from a gene within DNA. Translation second stage mRNA is used to direct production of a protein.
DNA Coding
DNA codes for the sequence of amino acids in a protein. A codon is three base-pairs long and is a segment of mRNA that codes for an amino acid.
Transcription
Messenger RNA (mRNA) transcribes the DNA and transports it out of the nucleus.
Transcription
Before leaving the nucleus, segments of mRNA called introns are removed and the exons are spliced together.
Exons contain the information coding for the protein that will be synthesized.
Transcription Review
http://www.youtube.com/watch?v=OtYz_3rkvPk&list=FL9N_Px072WuVorSwDfqf-9w&index=47&feature=plpp_video
Translation
Translation occurs on ribosomes outside the nucleus. mRNA attaches to a ribosome and protein synthesis begins.
Translation
Transfer RNA (tRNA) collects free amino acids from the cytoplasm and delivers them to the polysome (mRNAribosome complex) where they are assembled into a polypeptide.
tRNA has a triplet the anticodon that is complementary to the codon of mRNA.
Translation Review
http://www.youtube.com/watch?v=5bLEDd-PSTQ&feature=autoplay&list=FL9N_Px072WuVorSwDfqf-9w&playnext=1
of Gene Expression in
Eukaryotes
As
tissues differentiate, they use only a part of the genetic instruction present every cell. In a particular cell or tissue most genes are inactive at any given moment.
Gene Mutations
Genetic change through mutation and recombination provides the raw material for evolution.