module 12 Flashcards
functional genomics
to elucidate the roles of genetic sequences in a given species –> aims to understand gene function
proteome
the entire collection of proteins that an organism can make
proteomics
to understand the functional roles of the proteins of a species
bioinformatics
the analysis of biological information using a mathematical/computational approach
DNA microarrays
makes it possible to monitor thousands of genes simultaneously
RNA-Seq
used to study the simultaneous transcription of many genes
transcriptomes
the set of all RNA molecules
gene knockout collections
allows researchers to study gene function at the genomic level
Three general principles of ID strategies
1) locate specialized sequences within a very long sequence
2) locate an organization of sequences or sequence elements
3) locate a pattern of sequences
gene prediction
the process of identifying regions of genomic DNA that codes genes
Open reading frame
a nucleotide sequence that does not contain any stop codons
homology
similarities among species that occur because they are derived from a common ancestor
orthologs
homologous genes in different species
paralogs
homologous genes found in a single organism
Basic local alignment search tool (BLAST)
finds the number of times that the match or a better one would be expected to occur purely by random chance in the entire database
conserved site
a site that is identical or similar across multiple homologs
concordance
the percentage of twin pairs in which both twins exhibit the disorder or trait
haploinsufficiency
the heterozygote has 50% of the functional protein, not sufficient for normal phenotype
gain of function mutation
mutation changes protein so it gains a new function
dominant negative mutation
the mutant gene product acts antagonistically to the wild-type gene product
single-nucleotide polymorphisms
variation at a single bp in the genome
microsatellites
variation in the length of short, repetitive sequences
haplotype
refers to the linkage of alleles or molecular markers on a single chromosome
linkage disequilibrium
an individual carrying a mutant allele is more likely to carry a certain marker than by what would be expected for random chance
genome-wide association study (GWAS)
analyzes a genome-wide set of genetic variants to see if any variant is associated with a disease or other trait
clonal
cancer originating in a single cell
malignant
cancerous cell growth
invasive
cancer cells can invade healthy tissues
metastatic
cancer cells can migrate to other parts of the body
oncogene
a mutant gene that is over expressed and contributes to cancerous growth –> gain of function mutation
tumor-suppressor gene
gene that prevents cancer, if a loss of function mutation occurs in this gene –> cancerous growth will occur
proto-oncogenes
normal cellular genes that can be mutated to become an oncogene –> gain of function mutation
apoptosis
programmed cell death
caspases
digests selected cellular protiens
correlation coefficient
compares two variables to see if there are related to each other