The Human Genome: The Book of Essential Knowledge is written by Dr. John Quackenbush, theoretical physicist and Professor of Computational Biology at Harvard. The book is a great introduction to the human genome from someone who helped decode it. This post has some notes featuring concepts discussed in the book.
chromosome: contains a single molecule of DNA
telomeres: highly repeated DNA sequences on the end of chromosomes
DNA: polymer consisting of subunits (interchangeably referred to as nucleotides, nucleic acids, or bases) of adenine, cytosine, guanine, and thymine.
DNA replication: 1. helicases unwind the parent helix, 2. single-strand binding proteins stabilize the separated strands whose hydrogen bonds have been broken, 3. DNA polymerase binds to the single template strands and synthesizes a complementary DNA strand, 4. hydrogen bonds re-form between the new base pairs
polypeptides: long-chain polymers of variable lengths composed of a combination of 20 different peptide (amino acid) subunits
codons: base combinations that build a protein
transcription: copying genes into the polymer RNA
RNA polymerase: an enzyme that binds to unzipped DNA
messenger RNA: molecule resulting from the removal of RNA portions that do not code for proteins
gene mutation: change in the DNA code that results from things such as swapping a base, the addition/deletion of one or more bases, environmental influences, etc.
DNA sequencing: a process that involves priming DNA, synthesizing DNA, and using gel electrophoresis
enzymes: proteins involved in how other proteins within a cell are modified
homologues: genes that have nearly identical sequences and which may carry out the same functions
apoptosis: programmed cell death
bacterial artificial chromosomes: allow DNA fragments to be stably maintained in bacteria
transgenic: forms of life created by introducing genes linked to certain traits
spliceosome: area in the nucleus that removes the introns and joins the exons of mRNA together to create a mRNA molecule
microRNA: noncoding RNA molecule transcribed from the genome
polymorphism: variation in a gene sequence
gene expression: the expression or silencing of certain genes
epigenetic modification: activating or deactivating genes by making biochemical changes in their DNA
DNA methylation: alteration of a cytosine base by adding it to a methyl group, which changes the molecular structure of the cytosine without changing its base-pairing properties
tumor-suppressor genes: genes that restrain cell growth
DNA-repair genes: correct mistakes that occur in DNA during cell division
DNA microarray: gene chip that features DNA probes on a microscope slide
proteomics: area of research that examines proteins encoded within the genome
genotype: genetic makeup
phenotype: observable characteristics
autosomal dominant: dominant gene that does not reside on either the X or Y chromosomes
autosomal recessive: requires a person to inherit mutated gene copies from both parents to manifest the disease
polygenic: involving multiple genes
systems biology: the study of biological networks and pathways
single nucleotide polymorphisms: single base changes
mitochondrial DNA: DNA passed on only through the egg
transcription factors: regulatory genes that control when and where other genes are expressed
simple sequence repeats: polymorphic series of DNA sequences that repeat multiple times at specific locations within the genome
