Human Genetics Exam 1
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| 4 criteria to be considered genetic material: | storage of info, expression of info, transmission of info, and variation
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| bacteriophage | a virus that infects bacteria
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| steps in bacteriophage infection: | physically attach to bacterial cell, inject DNA inside of bacterial cell, protein coat left externally, viral replication (bacterial cell bursts)
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| proteins contain: | sulfur, nucleic acids, and phosphorus
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| nucleic acids consists of: | a sugar, nitrogen base, and phosphorus
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| nucleic acid sugars are either: | ribose or deoxyribose
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| the most basic building block of DNA is a nucleotide consisting of: | pentose sugar, phosphate group, and a nitrogenous base
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| purines | 2 fused rings, adenine and guanine
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| pyridimines | 1 ring, thymine and cytosine
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| A pairs with T via: | 2 hydrogen bonds
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| C pairs with G via: | 3 hydrogen bonds
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| nuceloside | sugar + base
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| nucleotide | nucleoside + phosphate groups
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| forms of DNA: | A-form (right handed), B-form (right handed), Z-form (left handed)
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| scaffold proteins | frame that guides DNA
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| histones | proteins that DNA coils around
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| nucleosome | set of 8 histones
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| chromatin | 30% histone proteins, 30% scaffolding proteins, 30% DNA, 10% RNA
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| 3 main steps of DNA replication: | initiation, elongation, and finalization (all occur in the S phase of cell cycle)
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| origin of replication | particular sequence where replication will begin, replication bubbles form here with their associated replication forks
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| DNA helicase | binds to the replication fork area, unwinds and separates strands
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| topoisomerase | enzyme that binds ahead of replication fork
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| single strand binding proteins | keep strands separated
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| RNA primers | act as a starting site for new synthesis
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| primase | enzyme that binds RNA primers to strand
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| RNA primers attract DNA polymerase which: | adds nucleotides and proofreads for errors
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| alpha (type of polymerase) | inititiates DNA replication with primase, makes the primer, then alpha and epsilon take over
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| epsilon (type of polymerase) | replication of the leading strand
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| delta (type of polymerase) | replication of the lagging strand
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| gamma (type of polymerase) | replication of mitochondrial DNA
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| kappa (type of polymerase) | replication of benzopyrene damaged DNA
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| eta (type of polymerase) | replication of thymine dimer damaged DNA
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| leading strand | continuous replication in same direction of the unwinding
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| lagging strand | replicated discontinuously
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| Okazaki fragments | fragments of replication on the lagging strand
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| DNA ligase | connects Okazaki fragments
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| flap endonucleases | remove original RNA primers, replaces with DNA
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| telomere sequence: | TTAGGG
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| DNA polymerase can only synthesize DNA in: | a 5' to 3' direction
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| DNA polymerase can't link together: | the first two nucleotides
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| telomerase | enzyme that recognizes sequence and synthesizes additional repeats, binds the 3' strand
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| critical point | can't divide anymore=aging
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| cancer cells | increase telomerase activity
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| Bloom syndrome | mutated helicase, dilated blood vessels, reddening of skin, increased risk of cancer
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| Xeroderma pigmentosum | mutated DNA damage repair, severe sunburn after a few minutes in sun, cancer by age 10
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| Werner syndrome | mutated Werner protein, develop normally until puberty, then advanced aging
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