Mitosis, Meiosis, Medellian genetics
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| Alternative Splicing | can generate different forms of mRNA from a single pre-mRNA
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| Negative control of Alternative RNA splicing | repressor blocks splicing machinery
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| Positive control of Alternative RNA splicing | splicing machinery inefficient unless activator is present
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| Sex lethal (Sxl) transformer (tra) and doublesex (dsx) genes are | part of a hierarchy of gene regulation for sex determination in drosophila
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| Sxl gene acts as a | switch and selects the pathway of sexual development by controlling splicing of the dsx transcript in a female specific or male specific fashion
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| spliceopathies | mutations that affect regulation of splicing; can contribute to genetic disorders
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| Myotonic dystrophy | expansion of trinucleotide repeats in 3' UTR of DMPK gene. DMPK protein sequence unaffected; repeats cause toxic mRNAs
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| toxic mRNAS of myotonic dystrophy | sequester proteins that are important for splicing of other mRNAS
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| at least ___ inappropriately spliced genes cause pathology | 20
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| control of mRNA stability | a steady state mRNA level is determined by the combination of transcription rate and rate of degradation. this is regulated in response to cellular needs. 3'UTR sequences can regulate stability
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| translation can be regulated to produce | the correct quantity of a protein
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| post-translational stability of a protein can be | modulated
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| a protein can be modified after translation to change its | structure or activity
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| RNA silencing controls gene expression through | RNA interference(RNAi) or RNA-induced transcriptional repression
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| it is estimated that ____% of human genes are regulated in part by RNA silencing | 30
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| Mechanisms of gene regulation by RNA-induced gene silencing | 1)dicer processes dsRNAs into siRNAs&miRNAs
2)binding to RISC or RITS; one strand is degraded
3)RNAi:RISC recognizes target mRNAs(degrades or inhibits their translation)
4)Txnsilencing:RITS recognizes genomic sequences in nucleus;recruits remodelingcmp
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| RNAi technology can | create single gene defects without having to induce mutations, which allows for rapid analysis of gene function
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| animal models have shown successful RNAi treatment of | viral infection, eye diseases, cancers, inflammatory bowel disease
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| different tumor types have different | characteristic miRNA profiles
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| some cancers are defective in miRNA expression so ___ ____ may help | synthetic miRNAs
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| overexpression of genes involved in cancer can be ____ by RNAi | targeted
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| limitations of RNAi as therapy | 1)short sequences make it harder to achieve specificity and avoid off-target effects
2)wont be useful for diseases that involve LOF gene
3)delivery methods have to be worked out
4)there may be cells that are impossible to target
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| Metacentric | centromere is in the middle
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| submetacentric | centromere between the middle and end
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| acrocentric | centromere close to the end
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| telocentric | centromere at the end
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| Homologous chromosomes | are similar and carry genes for the same inherited characteristics; they are not identical because they may carry different versions of the same gene
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| sex determining chromosomes are usually not | homologous but may behave as homologs in meiosis
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| Karyokinesis | nuclear division
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| cytokinesis | cytoplasmic division
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| Prophase | centrioles divide and move apart; nuclear envelope break downs; chromosomes condense and become visible
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| sister chromatids are connected at the ______ | centromere
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| centrioles | organize spindle fibers for movement of chromosomes during meiosis and mitosis
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| Prometaphase | chromosomes move to equatorial plane of the cell
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| Metaphase | centromeres/chromosomes aligned at equatorial plane
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| kinetochore | protein assembly at the centromere; spindle fiber attachment point
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| spindle fiber attachment leads to | cohesin degradation by separase
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| _____ at the centromere prevents cohesin degradation there | shugosin
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| Anaphase | sister chromatids separate from each other; migrate to opposite poles
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| separated sister chromatids are called | daughter chromosomes
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| Telophase | daughter chromosomes arrive at the poles; citokinesis commences; chromosomes uncoil and nuclear envelope is reformed
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| Meiosis I is ______ division | reductional
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| Meiosis II is _____ division | equational
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| DNA synthesis during Interphase before Meiosis I _____________ before Meiosis II | does not occur again
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| Synaptonemal Complex | found only in chromosomes of cells undegoing meiosis; vehicle for pairing of homologs and their segregation during meiosis
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| Meiosis I | homologous chromosomes separate and move toward the poles; sister chromatids remain attached at centromeres; duplicated chromosomes reach their poles; cytokinesis occurs and two haploid daughter cells are formed
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| Meiosis II | sister chromatids in each dyad separated to opposite poles; each haploid daughter cell from meiosis II has one member of each pair of homologous chromosomes
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| Nondisjunction during meiosis I or II leads to | gametes with abnormal numbers of chromosomes
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| pairing of nonhomologous sex chromosomes ensures | that they segregate
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| Meiosis produces diversity through | crossing over and independent assortment
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| Spermatogenesis | produces 4 haploid sperm cells
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| Oogenesis | produces and egg cell and two polar bodies
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| Monohybrid crosses | involve a single pair of contrasting traits
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| Allele | different versions of a gene
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| genotype | combination of alleles
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| Phenotype | physical expression of genetic makeup
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| Homozygous | two identical alleles
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| Heterozygous | two different alleles
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| testcross | a way to determine whether an individual displaying the dominant phenotype is homozygous or heterozygous for that trait
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| Mendel's three postulates of inheritance | 1)Unit factors in pairs
2)Dominance/recessiveness
3)Segregation during gamete formation
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| Dihybrid cross | involves two pairs of contrasting traits
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| Mendel's fourth postulate states that | traits assort independently during gamete formation; all possible combinations of gametes will form with equal frequency
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| Independent Assortment leads to | extensive genetic variation; produces genetically dissimilar gametes
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| Conditional probability | the likelihood of the desired outcome when one event depends on another
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| [n!/(s!t!)]*[(a^s)*(b^t)] | n=total# of events
s=#of times outcome a occurs
t=#of times outcome b occurs
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| degree of freedom = | n-1
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| Wild type | occurs most frequently in nature
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| Loss-of-function (LOF) | reduction or loss of the specific wild type function
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| Null allele | complete LOF
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| Gain of function (GOF) | enhanced WT function
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| Incomplete Dominance | offspring have an intermediate phenotype; phenotypic ratio identical to genotypic ratio
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| Tay-Sachs disease | Homozygous recessive die from hexosaminidase activity being absent; Heterozygotes appear normal but have 1/2 enzyme activity when compared to homozygous normal
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| threshold effect | normal phenotypic expression occur whenever a certain level (usually 50% or less) of gene product is attained
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| Codominance | the joint expression of two alleles of a gene in a heterozygote results in phenotypic detection of both gene products
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| Bombay phenotype | women came from parents with A and AB blood type but she had blood type O. This is possible bc she homozygous FUT1{she dont have fucose on H substance therefore she has no substrate to make a or b antigens
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| i^A allele adds | terminal sugar N-acetylgalactosamine to the H-substance
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| i^B allele adds | a terminal galactose to the H substance
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| i^O allele adds | no terminal sugars to the H substance
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| It is estimated that _____ of all genes are essential for survival | 1/3
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| Dominant lethals | exist in things such as huntington's disease, must reproduce before subject dies
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| Epistasis | one gene masks the effect of another; or two gene pairs complement each other such that one dominant allele is required at each locus to express a certain phenotype
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| Epistatic interactions often arise because | two or more different proteins participate in a common cellular function
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| Complementation testing | determines if two mutations causing a similar phenotype are alleles of the same gene
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| Pleiotropy | expression of a single gene has multiple phenotypic effects. Ex:Marfan Syndrome
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