L29 gene

what is a tumor suppressor gene

genes that normally negatively control cell proliferatioin or activate apoptosis

• loss of function mutations in tumor supressor genes are associated with tumor progression

what is cisplatin

successful drug in testicular embryonal carcinomas, ovarian, and bladder cancers that induces p53

what percentage of cancers is p53 compromised in

55%

• not comramised in testicular embryonal carcinomas making it a curable cancer

what happens when p21 is compromised

polyploidy cells and prostate cancers

what happens when p16/p19ARF is compromised

55% gliomas (brain cancer

what happens in Bax mutations

colorectal carcinomas through microsatellite instability and re

what happens when bub1 mutates

aneuploidy

• compromised spindle checkpoint that causes subset of colon cancers

what is the pedigree of cancer prone families at the cellular and organismal level

autosomal dominant inheritance

recessive at cellular level but dominant at organismal level

what type of “kinetics” are sporadic and familial cancers

sporadic → two hit

familial → one hit

what are examples of hereditary cancers

p53 mutations and Li-Fraumeni syndrome

in the hereditary cancers animal models, did the heterozygous p53 knockout follow the wildtype or the homozygous p53 knockout when regarding the recessive cancers

in the middle of the two

what type of mutations are most commonly seen in p53 mutations

dominant negative

• if mutant and wildtype subunits are present in equal amounts, 15 out of the 16 possible combinations will be non-functional

what is the poisoning effect of a dominant negative form of p53

that unlike KO mutations, these mutations aree dominant both at the organismic and cellular level

• why 15 out of 16 tetramers are nonfunctional if the mutant and wildtype subunits are there in equal amounts

what is it called when you uncover the recessive allele and lose the wildtype allele in a gene

loss of heterozygosity

about how much of acute leukemias are associated with chromosomal translocations and ex

65%

• philadelphia chromosome → translocation (9,22) creates bcr-abl fusion

the change in what enzyme enhanced the blind mole rats ability to repair DNA and fix genetic damage

cGAS

genetic program + environmental influence = ?

developmental output

• phenotype

what is autonomous development vs cell signaling

autonomous development → development determined by genetic program within a cell

cell signaling → a mechanism of cell cell communication that involves extracellular molecules produced by one cell and absorbed by another cell

• positional information

• shrot term and long term singaling

• morphogens

differences in amphibian development and complex vertebrates

amphibian → gastrulation depends on zygotic expression after blastula development from maternally supplied products

complex verts → zygotic expression is required earlier, after the first cleavage division

how many sexes does caenorhabditis elegans have and how many cells are in each

two

hermaphrodites (XX) → 959 cells

male (XO) → 1031 cells

what are cell lineages and what type of mutations often affect them

cell lineages → the ancestor descendant relationships among a group of cells in development

• affected via developmental mutations

what type of mutations are recessive mutations vs dominant mutations

recessive → loss of function

dominant → gain of function

what are maternal effect genes vs zygotic genes and which are controlled by which

maternal → genes that influence early development through their expression in the mother and the presence of the gene product in the oocyte

zygotic → group of genes that control early development through their expression in the zygote

zygotes are controlled by maternal

what do segmentation genes do

group of genes that determines the spatial pattern of segments and parasegments during early embryonic development in drosophila

what do coordinate genes, gap genes, pair rule genes, and segment polarity genes do

coordinate → determine the principal coordinate axes

gap genes → establish the formation of groups of segments

pair rule → determine the separation into discrete segments

segment polarity genes → determine the A-P pattern of development within each segment

one word names for each of the segmentation genes (coordinate, gap, pair rule, and segment polarity)

polarity, regionalization, periodicity, specification

what is the developmental progression in segementation genes in drosophila

polarity → regionalization → periodicity → specification

what do homeotic genes do

determine the fundamental pattern of development

what is a homeotic mutation and ex

developmental mutation that results in the replacement of one body structure by another

• HOX genes