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57 Cards in this Set
- Front
- Back
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genetic determination model
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many environments +1 genotype= 1 phenotype
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environmental determination model
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pheno. determined by environment, genes specify nature
2 environ + 1 geno= 2 pheno |
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genotype-environment interaction model
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2 geno + 2 environ = 4 pheno
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developmental noise
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random microfluctuations in environment lead to variations in phenotype
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penetrance
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% of indiv. with a given allele that exhibit phenotype
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expressivity
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extent to which phenotype of allele is expressed
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constitutive heterochromatin
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maximal condensation during interphase, late to replicate, transcriptionally inactive
(centromeres and telomeres) |
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faculative heterochromatin
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becomes highly condensed at particular stages
rRNA genes |
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euchromatin
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uncoiled during interphase, most actively transcribed genes found here
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unique and low copy sequences
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encode functional products
ncRNAs |
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highly repetitive DNA (satellite DNA)
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tandem repeats around centromeres, telomeres, intercalary heterochromatin
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multiple copy genes
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rRNA and histone genes
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minisatellites (VNTR's)
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non-coding, number of repeats varies between homologous chromosomes
create human fingerprint with restriction enzyme |
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microsatellites (SSR's/STR's)
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2-9 bp repeated 5-50 times
CODIS- 13 tetrameric STR's, amplified by PCR |
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transposons
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move in form of DNA, req transposase, breaks at inverted repeats at ends
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retrotransposons
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move in form of RNA, retrovirus like elements, LINES, and SINES
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retrovirus like elements
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rep. using reverse transcriptase (pol gene)
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LINEs
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long interspersed elements
autonomous, poly a tail, ORF |
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SINEs
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short interspersed elements, non-autonomous, mobilized by lines, alu repeats
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5' GU
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splice donor site
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3' AG
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splice acceptor site
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alternative splicing
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can generate multiple proteins from a single locus
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intercalary deletion
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removes material within a chromosome, leaving telomeres in tact
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terminal deletion
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removes end of chromosome, causes reactive ends
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pseudodominance
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phenotype of recessive allele in one homolog exposed by deletion of wild type allele
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neo-functionalization
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one copy of gene develops new function, other stays the same
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sub-functionalization
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duplicated genes divide original functions between them
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misalignment of homologs during synapsis results in unequal exchange
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duplication
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pseudogene
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inactive gene derived from duplicationof an ancestral active gene, usually transcriptionally active, but no functional product
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homolog
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gene that resides on same position on chromosome within a species
allels |
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paralog
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related genes within a species that arose from gene duplication
hemoglobin genes |
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ortholog
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genes in different species that have similar function and presumed to have common ancestral origin
hemoglobin genes in mice and humans |
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inversion
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removal of a segment and reinserted 108 degreesin same location
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paracentric inversion
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doesnt include centromere, 1/2 gametes functional, 1/2 duplicated or deleted, acentric or dicentric
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pericentric inversion
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includes centromere, 1/2 gametes functional, 1/2 duplicated or deleted, all have 1 centromere,crossovers never recovered
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supergene
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chromosomal segment or group of genes protected from crossing over and transmitted from generation to generation as a single genetic unit
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linkage disequillibrium
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non-random association of linked gene alleles in the gametes
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translocation
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relocation of a chromosomal segment to a different position in the genome
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reciprocal translocation
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one part of chromosome is switched with a non-homogous chromosome
ring config formed during diakinesis |
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alternate segregation
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both normal chromosomes migrate to same pole
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adjacent segregation
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normal and translocated chromosome migrate to one pole
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transcriptional control
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accessibility of gene to transcription apparatus- (chromatin structure)
control of transcription iniation by RNA poly. regulation by enhancers |
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post transcriptional control
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regulation of nuclear processing of mRNA's
mRNA transport from nucleus differential splicing of pre-mRNAs |
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regulation of nuclear processing of mRNA's
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capping 5' end of mRNA
polyadenylation (except histones) generation of alternatively spliced mRNA's |
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translational control
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selective translation of mRNA
degradation of mRNA in cytoplasm mRNA stability inhibition of translation (oocyte stores eggs) |
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post translational control
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protein modification after translation
-phosphorylation -glycosylation -attachment of lipids -ubiquitionation -methylation of lysine *bind to Ca+'s *cleaved after translation (insulin) *targeted to specific regions *form complexes (hemoglobin) |
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glycosylation
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addition of carbohydrate chain
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attachment of lipids
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may cause protein to localize to cell compartment where function is needed (cell membrane, ER, golgi)
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phosphorylation
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addition/removal of phosphate group on serine, theronine, ot tyrosine residues
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ubiquitionation
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changes in protein stability
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assembly of basal transcriptional complex
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*promoter binds proteins that control iniation of transcription (TF's)
*TF's bind to promoter at tata box by TBP *TBP recruits other proteins to RNA poly II *TF's position RNA poly on promoter *tail of RNA poly II phosphorlyated and released from promoter |
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mediator complex
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modulate activity of RNA poly II and TFIIH
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enhancer
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DNA sequence that activates a promoter and controls rate of transcription from that promoter
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boundaries
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seq binds CTCF protein, attracts HAT, keeping region open and blocking surrounding closed regions from creeping into active gene
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regulating access to gene
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acetylating K9=open
methylating K9=closed methylating K4=open (HDAC blocked from deacetylating K9) methylation of K4 prevents changes to K9 |
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DNA methylation
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occurs at cytosine 5'CpG3'
passed on to generations methylated DNA= closed |
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De Novo methylation
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DMT methyl DNA
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