GENETICS LEC

Sex Determination mechanisms

1. Genotypic sex determination (GSD)

- Determined by ploidy level
- Determined chromosomally at fertile
2. Environmental sex determination (ESD)
- Determined after fertile due to some environmental factor
- Determined by temperature, stressful conditions, behavior

Sex Lethal gene – monitors the ratio of the X’s to the autosomal genes

Molecular basis of heredity

Chromosome – very long DNA packaged w histones

DNA and RNA have: polynucleotides, repeating units of nucleotides, Phosphate + Sugar +
Nitrogen base
Anti-parallel – double stranded DNA
Hydrogen bonds – hold the 2 strands
Covalent bonds: phosphodiester, N-glycosidic bond
Nucleoside name: dependent on N- base present, Purines (Adenosine or Guanosine),
Pyrimidines (Cytidine/ thymidine/ uridine)
Nucleotide name: name + no. of phosphate group
Watson and Crick – DNA 3D structure
RNA structure – adenine guanine cytosine uracil
Deoxyribose – name of 5 carbon sugar for DNA
Ribose – name of 5 carbon sugar for RNA
Chains in a DNA structure – 2 (while in RNA: 1)
Heredity – passing on of traits from parents to offspring
The central dogma of molecular biology is that information is transferred from DNA to RNA to
Protein
Codons of mRNA – specify the sequence of amino acids in a protein

Chemical Basis of heredity

Ronald Aylmer Fisher – quantitative geneticist, explained breeding results

Chromosome components – Nucleic Acids (DNA & RNA), Proteins, Lipids
Genetic material is DNA because:
1. DNA is always constant,
2. DNA is half in haploid cells when compared to diploid,
3. DNA doubles and distributed to 2 daughter cells,
4. Polyploids have proportional increase in DNA
5. Parallelism of UV absorption of DNA and induction of mutation
6. Transformation and transduction in bacteria
Avery, MacLeod and MacCarty experiment – demonstrate what the transforming agent
Protease – destroys protein
Dnase – destroys DNA

Molecular structure of DNA

3’ to 5’ phosphodiester bonds – DNA nucleotide linked
Chargaff’s rules – Adenine (A) = Thymine (T); Guanine (G) = Cytocine (C)
DNA denaturation – gentle heating, produces changes in physical properties
Helix – x-ray diffraction pattern of DNA
Double Helix – shape of the DNA molecule
Eukaryotic chromosome – Nucleosome
Prokaryotic chromosome – ex. E. coli

Modes of DNA replication

Semiconservative model – new and old nucleotides
Conservative model – new nucleotides
Dispersive model – mixed

Gene Function

Gene to Phenotype
Alcaptonuria – mendelian recessive inheritance, arthritis, black urine upon air exposure
One gene = one enzyme hypothesis – by george beadle and edward tatum 1941
Protein Structure – determines enzyme activity and specifity
Levels of protein structure – Primary, secondary, tertiary, quaternary

Colinearity of DNA and protein

Central Dogma: DNA > transcription > RNA > translation > Protein
General Transfers: Replication, Transcription, Translation
Transcription – DNA anti-sense strand template, RNA polymerase, Product: ss RNA
- Initiation, elongation, termination (rho independent is intrinsic; rho dependent is rho
protein)
mRNA – messenger; single stranded, codes for amino acid sequence
tRNA – transfer
RNAs – cytoplasm
rRNAs – inside the ribosome
Translation – occurs in cytoplasm, requires amino acid activation, enzyme: amino acid
synthetase (20 types)
Splicing: Introns – non coding sequence; Exons – coding sequence
Capping – methylated guanine residue, protects mRNA from nucleases
Genomics – molecular analysis of entire genome
Proteomics - Systematic study of amounts of modification, interactions, localization, and
functions of all or subsets of all proteins

Mutations

- Changes in the organism, heritable, essentially permanent

Euploidy – changes in the whole genome or chromosome set
Aneuploidy – one or more chromosomes of genome are lacking/ in excess
Autopolyploid - Addition if one or more extra sets of chromosomes identical to normal haploid
complement of the same species
Allopolyploid - Combination of chromosomes from different species due to interspecific mating
Chromosome number - the same
Three alternative paths:
1. Broken ends ununited - Loss of the segment
2. Broken ends unite
3. Broken ends join with another broken segment
Deletion > Duplication > Inversion > Reciprocal Translocation

Gene Mutations – changes in the nitrogen base sequence

Microlesions/ Base pair substitution – one nucleotide pair is involved
Frameshift Mutation – occurs in regions w monotonous DNA sequence
Agents of Mutation
• Ionizing radiation
• Chemicals
• Extreme condition exposure
• Cell regeneration
• Hybridization
Patterns of Inheritance
• Autosomal domiant
• Autosomal recessive
• Sex-linked dominance
• Sex-linked recessive
• Sex-influenced

Abnormal Chromosome Number

Polyploidy (lethal) = Autosomal Anueploidy: Down’s syndrome, E Trisomy, D Trisomy
Sex Chromosome = Aneuploidy: Turner’s syndrome, Klinefelter’s syndrome, Triple X syndrome,
Double Y syndrome, hermaphoidism