Term
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Definition
| DNA regions encoding proteins of functional RNAs that lie amidst this expanse of apparently nonfunctional DNA. The entire nucleic acid sequence that is necessary for the synthesis of a functional gene product (polypeptide or RNA) |
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Term
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Definition
| Relatively similar sequences in the coding regions |
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Term
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Definition
| nonfunctional DNA between genes, common within genes of Mutlicellular plants and animals |
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Term
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Definition
| transcription-control regions in eukaryotic cells, they can lie 50kb or more from the coding region |
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Term
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Definition
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Term
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Definition
| polyadenylation, poly (A) sites |
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Term
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Definition
| splicing of primary RNA transcripts |
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Term
| Average size in bp of a typical human gene |
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Definition
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Term
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Definition
| Proteins and Functional RNA |
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Term
| what percentage of DNA is noncoding? |
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Definition
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Term
| What does non-coding mean? |
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Definition
| which do not code for proteins or functional RNA |
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Term
| Eukaryotic Gene Structure |
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Definition
| monocistronic; each mRNA molecule encodes a single protein |
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Term
| Prokaryotic Gene Structure |
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Definition
| polycistronic; coding region for several proteins that function together in a biological process |
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Term
| Simple Transcription Unit |
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Definition
| includes a region that encodes one protein extending from the 5’ cap site to the 3’ poly (A) site, and associated control genes. Introns lie between exons and are removed during processing of the primary transcript they do not occur in functional monocistronic mRNA |
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Term
| Complex Transcription Unit |
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Definition
| produce primary transcripts that can be processed in alternative ways |
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Term
| Example of a Simple Transcription Unit |
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Definition
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Term
| Example of a Complex Transcription Unit |
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Definition
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Term
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Definition
| one mRNA is produced from a complex transcription unit in some cells types; a different mRNA is made in other cell types |
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Term
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Definition
| 25-50 percent of the protein-coding genes are represented only once in the haploid genome |
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Term
| Example of a solitary gene |
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Definition
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Term
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Definition
| constitute the second group of protein-coding genes, close but non-identical sequences that often are located within 5-50kb of one another |
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Term
| Example of Duplicated gene |
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Definition
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Term
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Definition
| a set of duplicated genes that encode proteins with similar but non-identical amino acid sequences |
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Term
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Definition
| beta globulin gene family |
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Term
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Definition
| made up of the encoded, closely related, homologous proteins |
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Term
| Example of a protein family |
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Definition
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Term
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Definition
| two regions in a gene cluster which contain nonfunctional sequences, have same apparent exon-intron structure and the functional gene |
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Term
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Definition
| each occur only once in the haploid gene |
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Term
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Definition
| rRNA are encoded by multiple copies of genes located in tandem arrays in genomic DNA |
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Term
| non-protein encoding DNA encodes... (3) |
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Definition
SnRNA (function in RNA splicing)
SnoRNA (function in rRNA processing and base modification in the nucleolus) and MiRNA (regulates the translation and stability of specific RNA) |
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Term
| What percentage of DNA is estimated non-coding in the human genome |
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Definition
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Term
| Simple sequence DNA or satellite DNA |
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Definition
| composed of perfect or nearly perfect repeats of relatively short sequences |
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Term
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Definition
| composed of much longer sequences, consists of several types of transposable elements |
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Term
| Difference between simple sequence DNA and interspersed repeats? |
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Definition
| Simple sequence DNA is composed of short sequences of repeats while interspersed repeat DNA is composed of longer sequences of repeats |
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Term
| Difference between satellite and microsatellite DNA? |
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Definition
| Satellite DNA constitutes 6% of the human genome |
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Term
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Definition
| is when the nascent daughter strand slips backward relative to the template strand by on repeat; one new copy of the repeat is added to the daughter strand when DNA replication continues |
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Term
| How are microsatellites made? |
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Definition
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Term
| Diseases associated with microsatellites? |
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Definition
| Neuromuscular diseases are caused from expanded microsatellites. Expanded microsatellites behave like a recessive mutation because they interfere with just the function or expression of the encoded gene. |
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Term
| what does RLFP stand for? |
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Definition
| restriction fragment length polymorphism |
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Term
| What are the steps in RFLP? |
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Definition
| A mixture of pairs of PCR primers which hydridize to unique sequences flanking 13 of microsatillites are used to amplify DNA in a sample. |
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Term
| What is the point of doing RLFP? |
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Definition
| The resulting mixture of PCR product length is unique in the human population, except for identical twins. This allows analysis of small amounts of DNA to be individualized and is more sensative than fingerprinting |
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Term
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Definition
| PCR primers hydridize to the microsatillites in the person's DNA, PCR amplifies from a small amount to a large amount of DNA |
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Term
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Definition
| copied and inserted into a new site in the genome, essentially molecular symbiotes that in most cases appear to have no specific function in the biology of their host organisms |
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Term
| Two major classes of Transposable elements? |
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Definition
| Eukaryotic DNA transposons and Retrotransposons |
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Term
| Difference in movement in DNA transposons and Retrotransposons? |
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Definition
| Transposons are cut and paste mechanisms while retrotransposons are copy and paste mechanisms |
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Term
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Definition
| E.coli mutations caused by spontaneous insertion of a DNA sequence into the middle of a gene |
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Term
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Definition
| inactivate essential genes, killing the host cell and the IS element it carries, some transposed elements enter nonessential regions of the gene. Relatively large central region of an IS element, which encodes one or two enzymes required for transposition, is flanked by an inverted repeat at each end |
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Term
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Definition
| ~50 bp is invariably present at each end of an insertion sequence; the 5’ 3’ sequence on one strand is repeated on the other strand |
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Term
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Definition
| long terminal repeats-constitute ~ 8 % of human genomic DNA, LTRs flanking the central protein-coding region; contain 250-600bp depending on the type of LTR Retrotransposons |
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Term
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Definition
| long-interspersed elements- 6kbps long, observed in protozoans, insects and plants, but for unknown reasons they are particularly abundant in the genomes of mammals |
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Term
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Definition
| short-interspersed elements- 300bp, found in mammalian DNA |
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Term
| Relationship between LI elements and human disease? |
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Definition
| L1 elements transpose in the contemporary human genome. Hemophilia and myotonic dystrophy mutations resulting from insertion of an L1 element into a gene |
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Term
| Relationship between mobile DNA elements and antibiotic resistance |
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Definition
| Bacterial genes encoding enzymes that inactivate antibiotics have been flanked by insertion sequences generating drug resistance transposons |
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Term
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Definition
| located in the interior of the mitochondrion (matrix) |
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Term
| how many DNA molecules in MtDNA? |
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Definition
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Term
| When does mtDNA replicate? |
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Definition
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Term
| How is the mtDNA distributed? |
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Definition
| Equally to both daughter cells |
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Term
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Definition
| MtDNA has it's own genetic system, mitchondria is inhereted from mom |
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Term
| Mechanism of action of the aminoglycoside family of antibiotics |
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Definition
| Some antibiotics stop protein synthesis in ribosomes and mitochondria and some just block ribosomal synthesis |
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Term
| How is the mechanism of aminoglycoside antibiotics related to differences in bacterial versus human mitochondrial protein synthesis |
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Definition
| Antibiotics can cause toxicity because of the sensitivity of mitochondrial ribosomes |
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Term
| Genetic code for mitochrondria |
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Definition
| Genetic code of animal and fungal mtDNAs differs slightly from that of bacteria and the nuclear genome in that it varies among different animals and fungi. Plant mtDNAs and chloroplast DNAs appear to conform to the standard DNA code |
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Term
| two examples of human disease that involve mutations in mitochondrial DNA |
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Definition
| Leber’s hereditary optic neuropathy and Chronic progressive external opthalmoplegnia |
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Term
| the basic approach utilized in genomic studies |
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Definition
| The function of a protein that has not been isolated often can be predicted on the basis of similarity of its amino acid sequence of the sequences of proteins of known function |
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Term
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Definition
| use of computers to analyze sequence data |
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Term
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Definition
| computer program that rapidly searches databases of known protein sequences to find those with significant similarity to a query protein |
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Term
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Definition
| open reading frame- regions of genomic DNA containing at least 100 codons located between a start codon and a stop codon |
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Term
| how bioinformatics was used to understand the function of the NF1 gene in neurofibromatosis |
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Definition
| A region of the NF1 protein was discovered to have considerable homology to a protein of the yeast protein called Ira. Patients with neurofibromatosis express a mutant NF1 protein in cells of the peripheral nervous system, leading to inappropriate cell division and formation of the tumors characteristic of the disease |
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Term
| relationship between an organism’s genome size and biological complexity |
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Definition
| no relationship. Biological complexity is not directly related to the number of protein-coding genes |
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Term
| levels of chromatin structure |
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Definition
| DNA is associated with an equal mass of histone proteins in a highly condensed nucleoprotein complex called chromatin. Chromatin is made up of nucleosome, consisting of histone octamer around which is wrapped 147 bp of DNA |
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Term
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Definition
| consists of a protein core with DNA wound around its surface like a thread around a spool. Core is an octamer containing two copies each of histone H2A, H2B, H3 and H4. Has 147 base pairs of DNA wrapped a protein core |
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Term
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Definition
| transcriptionally inactive regions of DNA within cells is through to exist in condensed, 30nm fiber form and higher order structures built from it |
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Term
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Definition
| acylation on the tails of histone which influence chromatin structure by regulating the binding of histone tails to other, less abundant chromatin-associated proteins |
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Term
| Modifications to Histones (4) |
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Definition
| methylated, phosphorylated and monoubiquitinated and acylated |
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Term
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Definition
| hyperacetylated histone tails, easily acsessed by DNase I |
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Term
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Definition
| hypoacetylated histone tails, more condensed |
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Term
| X-chromosomes inactivatation in females |
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Definition
| X chromosome in nearly every cell of mammalian females is highly condensed heterochromatin, resulting in repression of expression of nearly all genes on the inactive chromosome. This inactivation results in dosage compensation so that genes on the X chromosome are expressed at the same level in both males and females |
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Term
| Chromosome structure in interphase |
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Definition
| Individual interphase chromosomes are less condensed than metaphase chromosomes. Interphase chromatin is organized into chromosome territories |
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Term
| Chromsome structure in metaphase |
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Definition
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Term
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Definition
| characteristic of each species |
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Term
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Definition
| is used to identify the different human metaphase chromosomes and to detect translocations and deletions |
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Term
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Definition
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Term
| chromosomal translocations |
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Definition
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Term
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Definition
| shortened chromosome 22 and an abnormally long chromosome 9, associated with chronic myelogenous leukemia |
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Term
| functional genetic elements required for replication and stable inheritance of chromosomes |
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Definition
(1)Replication origins at which DNA polymerases and other proteins initiate synthesis of DNA
(2)The centromere, the constricted region required for proper segregation of daughter chromosomes
(3)The two ends, or telomeres |
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Term
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Definition
| where DNA polymerases and other proteins initiate synthesis of DNA |
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Term
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Definition
| constricted region required for proper segregation |
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Term
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Definition
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Term
| how telomerase inhibitors might be a target for the development of novel anti-cancer therapies |
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Definition
| associated RNA are active in germ cell and stem cells, but are turned off in most cells of adult tissues that replicate only a limited number of times, or will never replicate again. Genes are activated in cancer cells |
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Term
| Typical Features of Prokaryotic Genes? |
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Definition
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Term
| Chicke Lysozyme gene is a solitary gene because... |
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Definition
| it is represented only once in the haploid genome |
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Term
| Complex Transcription units (3)... |
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Definition
have multiple poly (A) sites
can generate multiple mRNAs
can generate multiple polypeptides
are NOT common in bacteria |
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Term
| Tandemly repeated genes encode... |
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Definition
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Term
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Definition
| are involved in the regulation of gene expression |
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Term
| Which organisms has the greatest amount of DNA per cell? |
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Definition
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Term
| Microsatellite DNA (3)... |
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Definition
consists of 1-13 bps
can cause neurological disease like myotonic dystrophy
can occur within transcription units |
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Term
| Which repiticious DNA is the most abundant in the human genome? |
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Definition
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Term
| 3 functions of transposase... |
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Definition
excises the IS sequence from donor DNA molecule
introduces staggered cuts into the target DNA
ligates IS element into target DNA |
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Term
| Mobile DNA elements (3)... |
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Definition
| transposons, LINES and IS sequence elements |
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Term
| Example of a retrotransposons? |
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Definition
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Term
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Definition
are over 300 base pairs long
occur in over 1 million sites in DNA |
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Term
| three ways that mobile DNA elements contributed to eveolution of higher organisms |
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Definition
| generation of gene families, creation of new genes via gene shuffling and formation of more complex regulatory regions |
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Term
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Definition
99.9% of mitochrondrial DNA is inhereted maternally (in mice), Mitochondrial DNA encodes rRNAs and tRNAs, genome is smaller than yeast mitochrondrial DNA genome
Does NOT contain introns |
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Term
| genomic code in mtDNA is... |
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Definition
| different then that of nuclear DNA |
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Term
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Definition
| same organism, gene encodes two isoforms of the same protein (i.e. beta and alpha tubulin in yeast) |
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Term
| how many genes in the human genome? |
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Definition
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Term
| ORF analysis is not effective in organisms of higher order because of the presence of |
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Definition
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Term
| Three things that are indicitive of the presence of a gene in an unknown DNA sequence? |
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Definition
alignment to partial cDNA sequence
sequence similarity to genes of other organisms
ORF consistant with the rules for exon and intron sequences |
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Term
| Transcriptionally active DNA is... |
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Definition
| more susceptible to DNase I digestion |
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Term
| Eukaryotic chromsome (3) things... |
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Definition
is linear in sequence
consists of a single DNA molecule
can contain greater than a billion base pairs of DNA |
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Term
| X chromosome inactivation |
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Definition
| is considered an epigenic event |
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Term
| The karyote is characterized by(3) things... |
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Definition
| the number of metaphase chromosomes, the shape and size of metaphase chromosomes, and the banding pattern of metaphase chromosomes |
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Term
| chromosome painting involves |
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Definition
| hydrizing fluorescent probes to chromosomes |
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Term
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Definition
is the dark-staining area of the chromosome
often simple sequence DNA
region of condensed chromatin
NOT transcriptionally active |
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Term
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Definition
| high G content and specific proteins attached to the end |
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