Term
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Definition
| Changes to the chemical groups that associate with DNA profoundly affect which parts of the genome are accessible to the transcription factors and under which conditions. Such changes to the molecules that bind to DNA that are transmitted to daughter cells when the cell divides are termed epigenetic. |
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Term
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Definition
| A more complex portrait of gene expression which considers all the proteins made in a cell, tissue, gland, organ, or entire body. |
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Term
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Definition
| interactions of the histone proteins associated with DNA with other chemical groups expose some sections of DNA to transcription factors and shield other sections, blocking their expression. |
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Term
| Three major types of small molecules that bind to histones. |
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Definition
| Acetyl group, methyl groups, and phosphate groups. They key to the role that histones play in controlling gene expression lies in the acetyl groups. They bind to specific sites on the histones particularly the amino acid lysine. Acetyl binding can shift histone interactions in a way that eases transcription. |
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Term
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Definition
| bind to the 3 end of certain mRNAs preventing their translation into protein. Overall, these two processes determine the ebb and flow of different proteins, enabling cells to adapt to changing conditions. |
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Term
| Chromatin Remodeling can be compared to |
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Definition
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Term
| microRNAs can be compared to |
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Definition
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Term
| thalasssemia mental retardation syndrome |
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Definition
| anemia and mental retardation causes by undermetylation of heterochromatin. |
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Term
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Definition
| immunodeficiency, unstable centromeres, facial anomalies caused by of undermethylation of DNA repeats. |
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Term
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Definition
| repetitive movements, irregular breathing, seizures, loss of motor control, and neurodegeneration caused by a failure to remove acetyls from histones on gene DLX5 expressed in the brain. |
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Term
| Rubinstein-Taybi syndrome |
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Definition
| mental retardation, short stature, and facial anomalies caused by acetyl groups being added inappropriately to certain histones. |
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Term
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Definition
| a biological mechanism by which dsRNA induces gene silencing by targeting complementary mRNA for degradation. |
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Term
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Definition
| High levels of methionine can be found in sesame seeds, Brazil nuts, fish, meats and some other plant seeds; methionine is also found in cereal grains. Most fruits and vegetables contain very little of it. |
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Term
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Definition
In people with fragile X syndrome, the CpG island is methylated. As a result, the cell is unable to copy the information in the FMR1 gene. Since an mRNA copy is not made, FMRP will not be synthesized. Since there is no FMRP at the time and place it is needed, the characteristics of fragile X syndrome are set in motion.
Much of the focus on fragile X syndrome is on the expansion of the repeated CGG's. It is technically not the expansion that directly causes the problem. Instead, having more than 230 CGG repeats sets in motion methylation of part of the FMR1 gene. The methylation stops the synthesis of FMRP and the absence of FMRP causes fragile X syndrome. We do not know why having too many CGG repeats triggers methylation. |
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Term
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Definition
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Term
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Definition
|
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Term
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Definition
| messenger RNA, ribosomal RNA, transfer RNA |
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Term
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Definition
| carries information that specifies a particular protein. Produced in the nucleus. Transported to the ribosome. A three nucleotide codon specifies a particular amino acid. Most mRNAs are 500-4,500 bases long. |
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Term
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Definition
| in bacteria, operons control gene expression. In more complex organisms transcription factors control gene expression and link genome to environment. These contain DNA-binding domains. About 2,000 in humans. Mutations in transcription factors may cause a wide range of effects. |
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Term
| three steps of transcription |
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Definition
| initiation, elongation, termination. |
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Term
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Definition
Start- AUG
Stop-UAA,UAG,UGA |
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Term
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Definition
| requires mRNA, tRNAs, ribosomes, energy molecules, and protein factors. |
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Term
| Four levels of protein structure |
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Definition
| primary, secondary, tertiary, quaternary. |
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Term
| Disorders associated with protein misfolding |
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Definition
| alzhemier disease, familial amyotrophic lateral sclerosis, huntington disease, parkinson disease, lewy body dementia, PKU, Prion disorders |
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Term
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Definition
Cause is a defect in the enzyme phenylalanine hydroxylase
Symptoms include seizures, delayed development, behavioral problems, psychiatric disorders, musty or mouse like odor, lighter skin and hair, and skin disorders such as eczema.
Lab testing using inhibition assay or microfluorometric assay. |
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Term
|
Definition
Prion protein can fold into any of the several conformations.
One conformation is aberrant. Moreover, it can be passed on to other prions upon contact, propagating like an “infectious” agent. In addition, the aberrant conformation can form even in the wild-type protein.
Prion diseases are called transmissible spongiform encephalopathies. Example: scrapie, kuru, bovine spongiform encephalopathy. |
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Term
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Definition
| similar in sequence to a particular protein encoding gene, and it may be transcribed into RNA, but it is not translated into protein. |
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Term
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Definition
| most abundant type of repeat in a sequence of DNA that can jump about the genome. |
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Term
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Definition
| a change in DNA that is present in less than %1 of a population. May occur at the DNA or chromosome level. |
|
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Term
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Definition
| usually refers to the phenotype. Usually connotes an abnormal or unusual variant. |
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Term
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Definition
| Change occurs during the DNA replication that precedes meiosis |
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Term
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Definition
| happens during DNA replication before a mitotic cell division |
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Term
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Definition
| Results from a single DNA base change in the beta globin gene, which replaces glutamic acid with valine. Phenotype associated with homozygotes. Creates sickle shape of RBC. Sickling causes anemia, joint pain, and organ damage when RBC become lodged in small blood vessels. |
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Term
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Definition
| beta hemoglobin mutation. Two few beta chains. Major=homozygous. Minor=heterozygous |
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Term
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Definition
| a major component of connective tissue. Accounts for 60% of protein in bone and cartilage. Precise structure: triple helix of two polypeptides. Longer precurser procollagen is trimmed to form collagen. |
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Term
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Definition
| Collagen molecules cannot assemble, so skin becomes stretchy. It blocks the trimming of pro collagen to collagen. |
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Term
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Definition
| an agent that causes a mutation |
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Term
| Spontaneous Mutation Rate |
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Definition
| rate differs between genes, each human has about 1 in 100,000 chance of mutating. Each individual has multiple new mutations. Mitochnodrial genes mutate at a higher rate than nuclear genes because they cannot repair their DNA. |
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Term
| Mutation Rate of autosomal genes |
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Definition
| mutation rate=number of new cases/2x where x is the number of individuals examined. |
|
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Term
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Definition
| caused by mutagens, many are also carcinogens and cause cancer. |
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Term
| Examples of induced mutations |
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Definition
alkylating agents- remove a base
acridine dyes- add or remove a base
x rays-break chromosomes
uv radiation-creates thymine dimmers |
|
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Term
| site directed mutagenesis |
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Definition
| changes a gene in a desired way. |
|
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Term
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Definition
| the natural environment accounts for 81% of mutagens. Contributions from medical procedures are relatively minor. They are measured in millirems. The annual exposure of 360 millirems. 4,000-6,000 millirems is lethal. |
|
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Term
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Definition
| change a single nucleotide |
|
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Term
|
Definition
| purine replaces purine, pyrimadine changes pyrimadine. |
|
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Term
|
Definition
| purine replaces pyrimadine. This can cause issues. |
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Term
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Definition
| changes a codon that normally specifies a specific amino acid into another amino acid. |
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Term
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Definition
|
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Term
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Definition
| alters a site where an intron is removed from mRNA. Can affect the phenotype if the intron is translated or the exon is skipped. An example of an exon getting skipped is familial dysautonomia. |
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Term
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Definition
| a change that alters the reading frame |
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Term
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Definition
| removes genetic material. Removal of three or a multiple of three bases will not cause a frameshift, but can still alter the phenotype. |
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Term
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Definition
| adds DNA and it, too, can offset a gene's reading frame. |
|
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Term
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Definition
| an insertion of identical sequences side by side. |
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Term
| CNV (copy number varient) |
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Definition
| a sequence that vary in number from person to person. Range account for about 1/4 of our genome. Common among people with behavioral disorders. |
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Term
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Definition
| mutations that do not alter the encoded amino acid. |
|
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Term
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Definition
| humans do not have this type of repair. Photolyases absorb energy from visible light and use it to detect and bind to pyrimidine dimmers then break the extra bond. |
|
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Term
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Definition
| enzymes cut the bond between DNA and snip out the pyrimidine dimmer surrounding the bases. DNA polymerase fills the in the correct nucleotides using the exposed template as guide. Nucleotide excision repair repairs up to 30 nucleotides. |
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Term
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Definition
| Base excision repair replaces 1-5 nucleotides. Repairs errors due to oxidative causes. |
|
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Term
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Definition
| enzymes proofread newly replicated DNA for small loops that emerge from the double helix. The enzymes excise the mismatched base so that it can be replaced. |
|
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Term
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Definition
| affects the phenotype only under certain conditions. This can be protective if an individual avoids the exposures that trigger symptoms. |
|
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Term
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Definition
| if both copies of a repair gene are a mutant, a disorder can result. If damage is too severe p53 increases death rate. Mutations in genes encoding DNA repair proteins directly increases susceptibility to certain types of cancer. |
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Term
| Hereditary nonpolyposis colon cancer |
|
Definition
| affects 1/200 individuals. Defect in mismatch repair. HN{CC gene is on chromosome 2. |
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Term
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Definition
| autosomal recessive, seven genes involved. Malfunction of nucleotide excision repair or deficient "sloppy" DNA polymerase. |
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Term
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Definition
| a subdiscipline within genetics that links chromosome variations to specific traits and illnesses. |
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Term
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Definition
| the region between the centromere and the telomeres. |
|
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Term
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Definition
At tip: telocentric
close to end: acrocentric
off center: submetacentric
at midpoint: metacentric |
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Term
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Definition
| detects about 1,000 of the more than 5,000 known chromosomal and biochemical problems. Ultrasound is used to follow needle's movement. Risk for miscarriage is about 1 in 1,000 |
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Term
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Definition
| performed during the 10th to 12th week of pregnancy. Provides earlier results than amniocentesis. However it does not detect metabolic problems. Has a greater risk of spontaneous abortion. Chance of spontaneous abortion is also pretty high. |
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Term
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Definition
| a new technique detects fetal mRNA in the bloodstream of the mother. Easy to tell if baby boy. |
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Term
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Definition
| fluorescence in situ hybridization (FISH) introduces the ability to highlight individual genes. More precise and targeted that conventional chromosome staining becaue it uses DNA probes that are complementary to specific DNA sequences. |
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Term
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Definition
| a cell with an extra set of chromosomes. |
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Term
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Definition
| an individual whose cells have three copies of each chromosome. Most result from the fertilization of 2 sperm |
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Term
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Definition
| cells missing a single chromosome or having an extra one. |
|
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Term
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Definition
| normal number of chromosomes. |
|
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Term
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Definition
| the meiotic error that causes aneuploidy is called nondisjunction. A chromosome pair fails to separate at anaphase of either the first or second meiotic division. |
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Term
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Definition
| down syndrome. Most common autosomal aneuploid. A person with down syndrome is usually short and has straight, sparse hair and a tongue protruding through thick lips. The hands have an abnormal pattern of creases, the joints are loose, and poor reflexes and muscle tone give a "floppy" appearance. |
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Term
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Definition
| Edward syndrome. great physical and mental disabilities, with developmental skills usually stalled at the 6 month level. Major abnormalities include heart defects, displaced liver, growth retardation, and oddly clenched fists. |
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Term
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Definition
| patau syndrome. fusiong of the developing eyes, so that a fetus has one large eyelike structure in the center of the face. More common is a small or absent eye. Major abnormalities often affect the heart, kidneys, brain, face, and limbs. |
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Term
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Definition
| Turner's syndrome. 1 in 2,500 female births. 99% of affected fetuses die in utero. Don’t have a second sex chromosome. For the most part look normal. Hands and feet can be puffy. You can determine by the webbing on the back of their neck. Shorter than normal. Common to have ear infections. Never reach sexual maturity. While in the womb all their eggs mature. They can never produce mature eggs. Normal intelligence. Because of early menopause they have high risk of osteoporosis, colon cancer, etc. Normal life expectancy. No male equivalent. |
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Term
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Definition
| Xxx 1 in 1,000 births. Usually taller than average. Look different but not huge difference. Intelligence usually less than normal. |
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Term
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Definition
| Klinefelter syndrome. 1 in 500 male.Make them more feminine in characteristics. Sparse body hair and facial hair. Increased breast tissue. Most men don’t know until they are trying to have children. Some decreased intelligence. Do create some normal sperm. |
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Term
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Definition
| Likely arises due to unusual oocyte and sperm. ADD, ocd, learning disabilities, individuals are infertile. Treated with testosterone. Common to have ulcers in feet and legs. |
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Term
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Definition
1 in 1,000 male births.
96% phenotypically normal. Modest phenotypes may include great height, acne, speech, and reading disabilities. Studies suggest increase in aggressive behavior are not supported. |
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Term
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Definition
| deletion of part of the 5th chromosome. Deletion of the shorter arm. Children are pretty normal. Some behavioral issues. |
|
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Term
| deletions and duplications |
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Definition
| are missing and extra DNA sequences, respectively. They are types of copy number variants. Deletions and duplications can arise from chromosome rearrangements. These include translocations, inversions, and ring chromosomes. |
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Term
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Definition
| different nonhomologous chromosomes exchange or combine parts. |
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Term
| Robertsonian translocation |
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Definition
| the short arms of two different acrocentric chromosomes break, leaving sticky ends on the two longer arms that join, forming a single large chromosome with two long arms. |
|
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Term
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Definition
| two different chromosomes exchange parts. About 1 in 500 people is a carrier for translocation. |
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Term
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Definition
| a single crossover within the inverted segment gives rise to two normal and two very abnormal chromosomes. The other two chromosomes are normal. |
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Term
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Definition
| includes the centromere within the loop. A crossover in it produces two chromosomes that have duplications and deletions, but one centromere each. |
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Term
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Definition
| a chromosomes that has identical arms. This occurs when, during division, the centromeres part in the wrong place. |
|
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Term
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Definition
| chromosomes shaped like rings form in 1 out of 25,000 conceptions. Ring chromosomes may arise when telomeres are lost, leaving sticky ends that adhere. |
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Term
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Definition
occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development.
In many cases, UPD likely has no effect on health or development. Because most genes are not imprinted, it doesn’t matter if a person inherits both copies from one parent instead of one copy from each parent. In some cases, however, it does make a difference whether a gene is inherited from a person’s mother or father. A person with UPD may lack any active copies of essential genes that undergo genomic imprinting. This loss of gene function can lead to delayed development, mental retardation, or other medical problems. |
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Term
| Prader-Willi Syndrome, Angelman Syndrome |
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Definition
| caused by UPD or other errors in imprinting involving genes on the longer arm of chromosome 15. |
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Term
| Function of the Immune System |
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Definition
| protection against infection is based on the ability of the immune system to recognize foreign or nonself cell surfaces that are not part of the boyd. These include surfaces of microorganisms such as bacteria and yeast; nonliving infectious agents such as viruses and prions; and tumor cells and transplanted cells. |
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Term
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Definition
| A,B,O,AB. 29 major blood groups. Common RBC antigens. For more than a century blood was typed by an approach called serology. The newer way is to identify the instructions for the cell-surface antigens. This is done by genotyping |
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Term
| Major Histocompatibility Complex |
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Definition
| many of the proteins on our cell surfaces are encoded by genes that are part of a 6 million base long cluster on the short arm of chromosome 6. Provides 50% of immunity. MHC I an II encode human leukocyte antigens. MHC I is found on any cell type. MHC II is found on antigen presenting cells. MHC II encode blood plasma. |
|
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Term
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Definition
| are antigen presenting cells. A macrophage engulfs a bacterium, then displays the foreign antigens on its surface, which are held in place by MHC self proteins. This event sets in motion many immune reactions. |
|
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Term
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Definition
| immediate generalized immunity. Skin, mucous membranes, earwax, and waving cilia in the respiratory tract are examples if innate immunity. Inflammation is the central response of innate immunity. Creates a hostile environment for certain types of pathogens. |
|
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Term
|
Definition
| play a role in innate and adaptive immunity. Cytokines called interferons alert other components of the immune system to the presence of cells infected with viruses. |
|
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Term
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Definition
| cytokines that cause fever, temporarily triggering a higher body temperature that directly kills some infecting bacteria and viruses. |
|
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Term
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Definition
| another type of cytokine that activates other protective biochemicals, destroys certain bacterial toxins, and attacks cancer cells. |
|
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Term
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Definition
| B Cell produce antibodies in response to activation by T cells. |
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Term
|
Definition
| T cells produce cytokines and activate other cells. |
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Term
| Adaptive Immunities three basic characteristics |
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Definition
| it is diverse, specific, and remembers. |
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Term
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Definition
| In the humoral response B cells proliferate and mature into antibody-secreting plasma cells. Only the b cells that bind the antigen proliferate. Its descendants may develop into memory cells or plasma cells. Plasma cells greatly outnumber memory cells. |
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Term
|
Definition
| The simplest antibody molecule and consists of four polypeptide chains, heavy and two light, joined by pairs of sulfur atoms that form disulfide bonds. |
|
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Term
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Definition
| located in milk, saliva, urine, tears, and digestive secretions. Protects against pathogens at points of entry into the body. |
|
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Term
|
Definition
| on B cells in blood. Stimulate B cells to make other types of antibodies, particularly in infants. |
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Term
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Definition
| in secretions with IgA and in mast cells in tissues. Acts as a receptor for antigens that cause mast cells to secrete allergy mediators. |
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Term
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Definition
| blood plasma and tissue fluid, passes to fetus. Protects against bacteria, viruses, and toxins especially in the secondary immune response. |
|
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Term
|
Definition
| Blood plasma. Fights bacteria in primary immune function, includes anti A and anti B antibodies of ABO group. |
|
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Term
|
Definition
| recognize foreign antigens on macrophages, stimulate B cells to produce antibodies, secrete cytokines, and activate another type of T cell called cytotoxic T cell. Regulatory T cells formerly known as suppressor T cells are subpopulation of T cells which modulate the immune system, maintain tolerance to self antigens, and abrogate autoimmune disease. |
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Term
| Severe combined immune deficiencies |
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Definition
| affect humoral and cellular immunity. About half of SCID cases are X linked. In less severe forms the individual lacks B cells but has some T cells. |
|
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Term
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Definition
| an infectious viruses enters the body with direct contact of bodily fluids. Infects macrophages, and later, helper T cells. Virus replicates and bursts out of help T cell, killing it. Loss of helper T cells prevents B cells from activating. Infections occur because the immune system is not functioning. Replicates rapidly, mutates easily, and can hide. |
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Term
|
Definition
| HIV binds to help T cell. The part of the HIV that binds to the help T cell is called gp120. The carb chains that shield the protein part of gp120 move aside as they approach the cell surface, and the viral molecule can now bind to a CD4 receptor. |
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Term
|
Definition
| AIDS is the disease that results from HIV infection. The immune system impact of HIV infection has progressed to impairment of immune function. Due to genetically diverse population of HIV in human host, treatment requires combination of medication. Drugs block/inhibit different points of infection. Entry of virus into t cells, replication of viral genetic material, processing of viral proteins. |
|
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Term
|
Definition
| encodes for a receptor protein on a cell membrane. Individuals homozygous for 32 base deletion of CCR5 are resistant to infection. Heterozygous individuals become infected but stay healthy for several years longer than people that do not have the mutation. Same mutation may have enabled people to survive the plague in Europe during the Middle Ages. |
|
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Term
|
Definition
| immune system attacks the tissues of an individuals own body. Autoantibodies recognize self proteins. About 5% of the population has an autoimmune disorder. The signs and symptoms reflect the type of cells under attack. |
|
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Term
| 1) How autoimmunity arises |
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Definition
| A virus replicating in a cell incorporates proteins from the cells surface onto its own. When the immune system learns the surface of the virus to destroy it also learns to attack human cells that normally bear the protein. |
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Term
| 2) how autoimmunity arises |
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Definition
| Some cells that should have died in the thymus somehow escape the massive die-off, persisting to attack self tissue later on. |
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|
Term
| 3) how autoimmunity may arise |
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Definition
| A nonself antigen coincidentally resembles a self antigen, and the immune system attacks both. In rheumatic fever, antigens on the heart valve resemble those on streptococcus bacteria, antibodies produced to fight a strep throat also attack the heart valve cells. |
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Term
| 4) how autoimmunity may arise |
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Definition
| If X inactivation is skewed, a female may have a few cells the express the X chromosome genes of one parent. The immune system may respond to these cells as foreign if they have surface antigens that are not also on the majority of cells. This may explain why autoimmune disorders are more common in females. |
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Term
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Definition
| Immune response to a non-threatening foreign substance called an allergen. Size of allergens may determine type of allergic response. Large remains in upper respiratory tract, small can infiltrate the lungs. Asthma is a chronic disease. Contraction of the airways, inflammation and mucus production block air flow. |
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Term
|
Definition
Humoral and cellular immunity are involved. IgE antibodies are made and bind mast cells. Mast cells release allergy mediators like histamine and heparine that cause inflammation, runny eyes and nose, rashes, and asthma.
Allergens activate a class of helper T cells that release cytokines. Severe allergic reaction though out the body is called anaphylactic shock. |
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Term
|
Definition
| Rh is the rhesus factor. A person is Rh+ if the red blood cells have surface molecules called RhD antigen. Fetal cells entering the pregnant woman's bloodstream can stimulate her immune system to make anti Rh antibodies if the fetus is Rh+ and she is Rh-. A drug called RhoGAM prevents attack on subsequent fetuses. |
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Term
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Definition
| an inactive or partial form of a pathogen that stimulates the immune system to alert B cells to produce antibodies. When the person then encounters the natural pathogen, a secondary immune response ensues, even before symptoms arise. Vaccines consisting of entire viruses or bacteria can, rarely, cause illness if they mutate to a pathogenic form. |
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Term
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Definition
| medical treatment used to amplify or redirect the immune response. Monoclonal antibodies (MAb) Useful in detecting and targeting one particular antigen. In 1975 british researchers devised a technology which mass-produces a single B cell. Thus, preserving its spciicity an amplifying its antibody type. Uses are in basic research and disease diagnosis, home pregnancy strips, and herceptin. |
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Term
|
Definition
| cytokines are used to treat a variety of conditions. Interferons were the first cytokines to be tested on a large scale. Interleukin 2 is a cytokine that was administered intravenously to treat kidney cancer recurrence. |
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Term
|
Definition
| transfers tissue from one part of a person's body to another. |
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Term
|
Definition
| tissue from a monozygotic twin |
|
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Term
|
Definition
| comes from an individual who is not genetically identical to the recipient, but a member of the same species |
|
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Term
|
Definition
| tissue from one species to another. |
|
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Term
|
Definition
| cancer is genetic, but not usually inherited. Cancer is a group of diseases caused by a loss of cell cycle control. If a cell escapes normal control over its division rate, it forms a growth called a tumor. |
|
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Term
|
Definition
| the process of cancer spreading |
|
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Term
|
Definition
| there are more than 30 tumor suppressor genes, which cause cancer whey they are deleted or inactivated. The normal function of a tumor suppressor gene is to keep the cell cycle running at the appropriate rate for a particular cell type under particular conditions. |
|
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Term
|
Definition
| timing, rate, and number of cell divisions depend on: protein growth factors, signaling molecules from outside the cell, transcription factors within. Checkpoints control the cell cycle. |
|
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Term
|
Definition
| gametes keep their telomeres longer thanks to the enzyme telomerase, that is a complex of RNA and protein. Part of the RNA the sequence AAUCCC serves as a template for the template for the 6DNA base TTAGGG that builds telomeres. Telomerase moves down the DNA likea sipper adding six teeth base at a time. |
|
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Term
|
Definition
| occur sporadically in nonsex cells. Result from a single dominant mutation or two recessive mutations in the same gene. Cancer susceptibility not passed on to offspring. |
|
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Term
|
Definition
| cancer susceptibility passed on to the offspring. Usually requires second somatic mutation. Rare but strike earlier than sporadic cancers. |
|
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Term
|
Definition
| a cancer cell can become less specialized than the normal cell types near it that it might have descended from. |
|
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Term
|
Definition
| cancer cells recruit their own capillaries. |
|
|
Term
| How does cancer begin at a cellular level |
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Definition
| activation of a stem cell that produce cancer cells. Dedifferentiation occurs. There is then an increase in the proportion of tissue that consists of stem or progenitor cells. Faulty tissue repair |
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Term
|
Definition
| normal versions of genes that promote cell division. Called oncogenes in their mutated form. |
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Term
|
Definition
overexpression of normal function
Viruses integrated next to proto-oncogne. Moving a proto-oncogne next to a highly transcribed gene. Ex Burkitt lymphoma. People infected with Epstein barr virus A translocation places a proto-oncogne on chromosome 8 next to an antibody gene on chromosome 14. The oncogene is over expressed, and the cell division rate increase. |
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Term
|
Definition
| an oncogene is also activated when a proto-oncogene moves next to another gene, and the gene pair is transcribed and translated together, as if they are one gene. Ex promyelocytic leukemia. |
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Term
|
Definition
| product of oncogene. Excessive levels in approx 25% of breast cancer patients. Too many tyrosi receptors. Send too many signals to divide. The drug herceptin binds to the receptors. The signal is blocked so the division is no longer out of control. |
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Term
|
Definition
| tumor suppressor genes normally stop a cell from dividing. Mutations of both copies of a tumor suppressor gene is usually required to allow cell division. |
|
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Term
|
Definition
| a rare childhood cancer. The RB gene is on chromosome 13. They harbor one germline mutant allele for the RB gene in each of their cells. Cancer develops in any somatic cell where the second copy of the RB gene mutates. |
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Term
|
Definition
| guardian of the genome. Determines if a cell has repaired DNA damage. More than 50% of human cancers involve an abnormal p53 gene. Rare inherited mutations in the p53 gene causes a disease called li-fraumeni syndrome. Family members have many different types of cancer at early ages. |
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familial: a germline mutation is inherited and then a somatic mutation occurs in the breast cell.
Sporadic: two somatic mutations affect the same cell. |
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| Two major breast cancer susceptibility genes are BRCA1 and BRCA2. Encode proteins that join two others to form a complex that allows repair of double stranded DNA breaks. Normally protein complex that includes BRCA1 and BRCA2 allows other cell cycle genes to repair. If they are messed up the cells aren't repaired. You then get messed up DNA that you don't want. |
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| normally control the expression of proto-oncogenes and tumor suppressor genes. When microRNAs themselves have mutations or their expression is too high or too low, cancer can result. |
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| directly control mitosis and apoptosis |
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| control mutation rates and have an overall effect when mutant is destabilizing the genome. |
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| New types of cancer drugs |
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| stimulate cells to regain specialized characteristics, inhibit telomerase, induce apoptosis, inhibit angiogenesis. |
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| Ancestory to humans, 6 million years ago hominin line broke off from apes. |
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| 2-4 million years ago. Bipedal, not a tree dweller. Several species flat skull bases. Stood 4 to 5 feet tall. Humanlike teeth. Brain size of a gorilla. Hunter gatherer lifestyle. |
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| 1 million years ago. Shallow forehead, massive brow ridge, brain about 1/3 the size of a modern human. Angled skull base, possible speech. Social, cooperative, used fire. Found in China, Java, Africa, Europe, and SE Asia. Pockets may have persisted until about 35,000 years ago. |
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| Lived about 156,000 years ago. Physically similar to modern humans. Probably resembled Australian Aborigines |
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| split from human lineage about 516,00 years ago. Lived all over Europe. Reconstructions of skeletons indicates major differences between us. Larger brains, prominent brow arches. Muscular jaws, distinct spacing of teeth. Large barrel shaped chest. Powerfully built. |
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coexisted with the lighter-weight cro-magnons from 30,000-40,000 years ago.
Neanderthals buried their dead and placed flowers on their deceased.
Use of flint spears for hunting
For reasons unknown, by 28,000 yearso ago Neanderthals disappeared (through disease, competition, or changing environment)
Analyzing Neanderthal DNA is difficult because it is rare, and often contaminated by handlers
Using ancient DNA and mitochondrial DNA clocks indicates that Neanderthals were a side branch of our family tree
Neanderthals and our direct ancestors parted ways before humans left Africa
Non-African modern human genome is 1-4% Neanderthal |
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| Access to one Denisovian sample (siberia) Alleles for brown skin, hair, and eyes. Range New Guinea population contains. 6% Denisovian DNA. |
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