Midterm 1 Flashcards
Translation
Process of producing proteins at nucleoprotein structures called ribosomes
Transcription
Process of expressing genetic information, where one strand of DNA is used to direct synthesis of a single RNA
DNA nucleotide
Made up of 5 carbon deoxyribose sugar, phosphate group, and either A G T C
Helicase
Unwinds and unzips DNA, breaks the hydrogen bonds
SSBs
Stabilize single stranded DNA, by not letting the strands rejoin together
Gyrase (topoisomerase)
Relieves torsional stress, by breaking phosphodiester bonds along the length of the DNA
RNA primers
Primes DNA synthesis, allows polymerase to begin
DNA polymerase 1
Replaces RNA nucleotides with DNA nucleotides after the primer is removed
DNA polymerase 3
Elongates the the new strand after the primer is set
DNA ligase
Adds nucleotides to connect lagging (Okazaki) strands
mRNA splicing
Occurs at sites determined by consensus sequences, takes place in nucleus
Alternative splicing
Can give rise to different proteins in different tissues with different functions, splices out introns and keep exons, does not occur in prokaryotes; allows the number of proteins produced to exceed the number of genes that are expressed
tRNA
Transport amino acids to ribosomes to make proteins, binds to codon on mRNA
Ribosomes
Bind mRNA and identify codon for translations, bring pairing btw mRNA codons and tRNA anticodons, catalyze peptide bond formation btw amino acids
Silent mutation
Doesn’t make any change in amino acid sequence
Missense mutation
Change in an amino acid
Nonsense Mutation
A unnecessary stop codon is put out, stoping transcription
Frameshift mutation
Shifts how nucleotides are grouped together
Centromere
Area where sister chromatin are attached and chromatin is most tightly condensed. Where kinetochore is located and spindle fibers attach to pull apart.
Telomeres
When the lagging strand loses the primer, telomeres are the end of the chromosome arm, consisting of a complex of proteins and RNA templates that add repeated DNA sequences to insure that there is no shortening of the strand. When the telomeres are gone, this leads to cell death
Epigenome
Heritable changes that regulate gene expression without altering DNA sequence. Epigenetic trait can be inherited up to 2 generations.
Law of independent assortment
During gamete formation the segregation alleles at one locus is independent of the segregation of alleles at another locus
Law of segregation
Allele pairs separate or segregate during gamete formation, and randomly unite at fertilization
Back cross
Mating of a hybrid organism (offspring of genetically unlike parents) with one it it’s parent or an organism genetically similar to it’s parent.
Haploid
n=23
Diploid
2n=46
Locus
Location of a gene or sequence on a chromosome or on a linkage map
Interphase (mitosis) G2
Chromosomes duplicate, nuclear envelope is still intact, and no chromosomes are visible. Microtubules begin to extend
Prophase (mitosis)
1st stage of mitosis, chromosomes begin to condense, centrosomes begin to migrate towards poles, nucleotides disappears.
Prometaphase (mitosis)
2nd stage of mitosis, nuclear envelope breaks down, centrosomes extend Microtubules ad attach to kinetochores on sister chromatids.
Metaphase (mitosis)
3rd stage of mitosis, sister chromatids line up along the metaphase plate, complete mitosis spindle is in place.
Anaphase (mitosis)
4th stage of mitosis, sister chromatids separate (disjunction) and move toward opposite poles (cell is in oblong shape)
Telophase and Cytokinesis (mitosis)
Last stages of mitosis, nuclear envelope begins to reassemble, chromosomes decondense, and cytokinesis divides the two new daughter cells, nucleolus reforms
Prophase 1: Leptotene (meiosis 1)
1 of 5
Chromosome have been duplicated, condensation begins, asters of Microtubule spindle fibers are produced from centrosomes
Prophase 1: Zygotene (meiosis 1)
2 of 5
Chromosomes continue to condense, homologous chromosomes (bivalent) enter synapsis.
Prophase 1: Pachytene (meiosis 1)
3 of 5
Chromosome condensation is partially complete. Crossing over occurred between non sister chromatids of homologous chromosomes. Kinetochore Microtubules attach to kinetochore, nuclear envelope breakdown begins
Prophase 1: Diplotene (meiosis 1)
4 of 5
Crossing over complete, tetrads (4 chromatids of homologous pairs are visible.
Prophase 1: Diakinesis (meiosis 1)
5 of 5
Kinetochore Microtubules are attached to tetrads, nuclear envelope is fully gone
Metaphase 1 (meiosis 1)
Tetrads aligned along the metaphase plate, chia smarts linking nonsister chromatids is broken
Anaphase 1 (meiosis 1)
Depolymerization of kinetochore Microtubules shins disjunction of homologous chromosomes, separates tetrads
Telophase 1 and cytokinesis (meiosis)
Nuclear membranes reform around chromosomes at each pole. Each new cell has a haploid set of chromosomes. Cytokinesis divides cytoplasm and separates nuclei
Prophase 2 (meiosis)
Nuclear envelope reals down, centrosomes duplicate and move toward opposite poles.
Metaphase 2 (meiosis)
Sister chromatids are attached to Microtubules an align along the metaphase plate
Anaphase 2 (meiosis)
Sister chromatids separate, polymerization of non kinetochore Microtubules elongate the cell.
Telophase 2 and cytokinesis (meiosis)
Chromosomes begin to decondense, and nuclear envelope reforms around chromosomes. Cytokinesis separates the new cells.
Autosomal Dominant
Means you only need to get the abnormal gene from one parent in order for you to inherit the trait or disorder
Gene expression
Conversion of a gene into its product, which is generally a protein. Which determines the phenotype.
Central Dogma
DNA to RNA to Protein.
Autosomal recessive
Means two copies of an abnormal gene must be present in order for trait or disorder to develop.
Rare X-linked recessive
Both matching genes must be abnormal to cause disorder.
Rare X-linked Dominant
Single abnormal gene in the X chromosome can cause disorder
Incomplete dominance
Heterozygous have a phenotype intermediate to the two alleles
Ex: pink flower instead of red or white
Co-dominance
Phenotype of both alleles is fully expressed in heterozygotes
In allelic series
Ex: blood types
Penetrance
The probability that a mutation will manifest it’s phenotype
Expressivity
How strongly a phenotype is expressed
Epistasis
A gene at one locus alters the phenotypic expression of a gene at a second locus
Ex: color of dogs
Multiple Alleles
More than two alleles affect a phenotype
Pleiotropy
One gene affects more than one phenotypic characters
Polygenic inheritance
Multiple gene are responsible for a phenotype
Environmental impact
Genetically identical individuals show different phenotypes as a result of environmental factors