Genome Annotation Techniques

Study Notes

DNA Structure and Function

DNA is composed of 4 building blocks: deoxyribose, sugar, and 4 nitrogenous bases (A, T, G, and C)
Nitrogenous bases pair together in a specific manner: A-T and G-C
DNA is linked together with covalent bonds between sugar and phosphate molecules
The double helix structure has major and minor grooves and is antiparallel (5' to 3' and 3' to 5')

Proteins

Proteins are composed of amino acids linked together with covalent bonds
Amino acids have central carbon atoms with different side chains that dictate condensation
Protein folding involves primary, secondary, tertiary, and quaternary structures

Genomics

The Human Genome Project was proposed in 1984, started in 1990, and completed in 2003
The project cost $2.7 billion initially, but now costs only $600
The human genome consists of approximately 3 billion base pairs, with 99.99% identical to other humans and 99% identical to chimpanzees

Chromosome Organization

DNA is wrapped around histones to form chromatin, which condenses to form chromosomes
Humans have 46 chromosomes, with the sex chromosomes being X and Y for males and XX for females

Huntington's Disease

Huntington's disease affects brain function, including movement, intellect, and emotions
The disease is caused by an expansion of a CAG repeat on chromosome 4, affecting the Huntingtin (HTT) protein
Symptoms typically appear between ages 35-45, and death occurs within 10-15 years

Mendel's Postulates

Mendel's laws of segregation and independent assortment describe how traits are inherited
The dihybrid cross involves the segregation of two different traits, which can be predicted using Punnett squares

Mutations and Genomics

Mutations can be classified as gain or loss of function
Recessive mutations affect individuals with unaffected parents and may skip generations
Dominant mutations affect structural, control functions, and other unknown aspects

Annotating Genomes

Open reading frames (ORFs) are identified as potential protein-coding sequences
Genomes are compared to mRNA sequences to identify functional genes
Homologous genes are searched for in model species to identify conserved functions

Genomes and Genetics

Forward genetics involves starting with a phenotype and analyzing the responsible mutation
Reverse genetics involves inducing mutations and analyzing the resulting phenotype
Transposable elements are DNA sequences that copy themselves into other locations in the genome

Description

This quiz covers topics related to genome annotation techniques such as finding ORFs (Open Reading Frames), comparing genome sequences to mRNA sequences, searching for homologous genes in model species, and identifying similarities in DNA sequences in closely related species. Test your knowledge on structural, control functions, and genome annotations.