definitions Flashcards
loss of function allele
affected gene does not function
hypomorphs
partially defective alleles
temp sensitive mutants
allow for conditional inactivation of genes. Most useful for analysis of genes that are essential for the survival of a cell
haplosufficiency
the loss of one of the two copies of a gene resulting in a mutant phenotype
gain of function
mutation results in constant activation of a gene
dominant negative
loss of function mutation that interferes with wild type protein
antemorph
a mutant poisons the function of another gene e.g. transcription factor overlapping DNA binding sites
neomorph
a mutant leads to a function that is not identical to activated gene/protein.
synthetic lethality
combination of 2 non lethal mutations leading to lethality
supressor mutation
A suppressor mutant suppresses the phenotype of a mutant. For instance gain of function mutants in a signalling pathway can be suppressed by loss of function mutants that are downstream of this pathway.
ortholog
genes in diff species that evolved from common ancestors. Normally same function is retained
paralogs
genes related by duplication within same genome. paralogs may evolve to have diff functions
homolog
gene related to another gene by descent from common ancestral DNA sequence
genome size of ecoli
5 mil bp 5000 genes
genome size of budding yeast
12 mil bp 6200 genes