Describe the structure of CFTR. You must provide a written descripti.pdf

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Describe the structure of CFTR. You must provide a written description for full credit. A picture on its own is not enough. A picture with a description is acceptable. (5 points) What is the function of CFTR? (details are important) (5 points) Why is the mucus thicker than normal in CF patients? A good answer will include a description of how osmosis is affected by CF. (5 points) The most common mutation causing CF is a deletion of F508. What are the cellular consequences of the F508 deletion? (5 points) What are the organismal consequences of the F508 deletion? i.e. how does this mutation affect a human being? (5 points) How would you use gene therapy to treat CF? What problems might the plasma membrane cause for successful gene therapy? (5 points) Solution Describe the structure of CFTR CFTR protein : CFTR : Mutation F508 is a class II CFTR mutation.[ The CFTR protein is to a great extent communicated in cells of the pancreas, intestinal and respiratory epithelia, and every exocrine organ. At the point when appropriately collapsed, it is moved to the cell layer, where it turns into a transmembrane protein in charge of opening channels which discharge chloride particles out of cells; it likewise at the same time hinders the take-up of sodium particles by another channel protein. Both of these capacities help to keep up a particle angle that causes osmosis to coax water out of the cells. The F508 transformation prompts to the misfolding of CFTR and its inevitable debasement in the ER. In life forms with two supplements of the transformation, the protein is totally truant from the cell film, and these basic particle transport capacities are not performed.

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1. Calculate the frequency of the recessive and dominant allele in the population. (round to nearest hundredth) 1. Calculate the frequency of the recessive and dominant allele in the population. (round to nearest hundredth) 1. Calculate the frequency of the recessive and dominant allele in the population. (round to nearest hundredth) 2. Calculate the percentage of heterozygous and homozygous dominant individuals in the population. please show all your work :) thank you Jse the following information: Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A person must inherit two mutated copies of the CFTR gene (one copy from each parent) to have cystic fibrosis (CF). Cystic fibrosis is an example of a recessive disease. That means a person must have a mutation in both copies of the CFTR gene to have CF. People who inherit one copy of the CFTR gene that contains a mutation and one normal copy are considered CF carriers. CF carriers do not have the disease but can pass their copy of the defective gene on to their children. In people with CF, mutations in the CFTR gene disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body. Mutations in the CFTR gene cause the CFTR protein to malfunction or not be made at all, preventing normal movement of salt and fluids. This leads to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of the pancreas, and complications in other organs. Suppose you are a doctor researching CF in North American populations. You determined in previous research studies that the typical allele frequency of the mutant CF allele ( f ) among Caucasians is 0.025 , while the frequency of the normal allele ( F ) is 0.975 . You sample a population of New York City residents, and you determined that 4,810 individuals have a normal phenotype, while 190 individuals exhibit CF. Answer the following questions..

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Epithelial to Mesenchymal Transition Epithelial vs Mesenchymal cells (A) Epithelial cells are inter- connected through tight junctions (gray), E-cadherin-based junctions (red), which are connected to the actin cytoskeleton, gap junctions (red/blue), and hemidesmosomes (cyan), which are connected to the cytokeratin-based intermediate filament cytoskeleton. Epithelial cells also have specialized cell-ECM interactions for adhesion to the laminin-rich basement membrane. CSHL collection Epithelial vs Mesenchymal cells (B) Mesenchymal cells show a shift to a vimentin-based intermediate filament cytoskeleton and altered composition of cell-ECM interactions optimized for adhesion to the collagen-rich interstitial matrix. Mesenchymal cells also produce abundant TGFb, growth factors (GF), and matrix metalloproteinases (MMPs), as well as components of the extracellular matrix. CSHL collection Epithelial vs Mesenchymal cells Use this slide to practice describing the differences between these two types of cells Cell phenotypes in early mouse embryo. (A) Gastrulating mouse embryo. (C') Scanning electronic micrograph of a transverse section through a mouse embryo showing the different cell phenotypes: columnar epithelium, mesenchyme and squamous epithelium. (B) Diagram of the embryonic part of a mouse embryo. Dashed box outlines the three germ layers. (C) Scanning micrograph shown in C' color-coded for the three germ layers. EMT and its reverse MET . Diagrammatic representation of EMT, its reverse MET (mesenchymal to Epithelial Transition), egression and ingression. (A) Epithelial cells undergo EMT to assume mesenchymal characteristics. Conversely, mesenchymal cells undergo MET to epithelialize. (B) In an ingression, cells undergo EMT and leave an epithelium, while in an egression cells undergo MET and join a preexisting epithelium as in endoderm formation in birds and mammals. Rear-front to apico-basal polarity Categories of EMT Three types of EMT can be discerned depending on the physiological tissue context. Type1 EMT occurs in embryogenesis and organ development, type2 EMT is important for tissue regeneration and organ fibrosis, and type 3 EMT is associated with cancer progression and cancer stem cell properties. EMT and MET The process of MET (mesenchymal–epithelial transition) enables cells that have undergone EMT to revert to the epithelial state. MET also contributes to development and the generation of metastatic carcinomas. Consecutive rounds of EMT and MET occur during development. In 1ary EMT, epithelial cells without prior history of EMT differentiate into mesenchymal cells. In 2ary EMT, cells that have already undergone EMT and MET initiate a new EMT process, e.g. following dissemina ...

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Why is it important that the duration of cell-cycle phases be controllable in adult multicellular organisms? b. What is MFP? Describe how this complex affects the cell cycle. Solution SOME BRIEF DESCRIPTION WHICH HELP YOU TO UNDERSTAND QUESTION AND IT S ANSWER FOR MY KNOWLEDGE IT HELPS YOU NOTE ;------ (The cell grows . The duration of these cell cycle phases varies considerably in different kinds of cells. For a typical rapidly proliferating human cell with a total cycle time of 24 hours, the G1 phase might last about 11 hours, S phase about 8 hours, G2 about 4 hours, and M about 1 hour.) The cell cycle or cell-division cycle is the series of events that take place in a cell leading to its division and duplication of its DNA (DNA replication) to produce two daughter cells. In bacteria, which lack a cell nucleus, the cell cycle is divided into the B, C, and D periods. The B period extends from the end of cell division to the beginning of DNA replication. DNA replication occurs during the C period. The D period refers to the stage between the end of DNA replication and the splitting of the bacterial cell into two daughter cells. In cells with a nucleus, as in eukaryotes, the cell cycle is also divided into three periods: interphase, the mitotic (M) phase, and cytokinesis. During interphase, the cell grows, accumulating nutrients needed for mitosis, preparing it for cell division and duplicating its DNA. During the mitotic phase, the chromosomes separate. During the final stage, cytokinesis, the chromosomes and cytoplasm separate into two new daughter cells. To ensure the proper division of the cell, there are control mechanisms known as cell cycle checkpoints. The cell-division cycle is a vital process by which a single-celled fertilized egg develops into a mature organism, as well as the process by which hair, skin, blood cells, and some internal organs are renewed. After cell division, each of the daughter cells begin the interphase of a new cycle. Although the various stages of interphase are not usually morphologically distinguishable, each phase of the cell cycle has a distinct set of specialized biochemical processes that prepare the cell for initiation of cell divisions. Cell cycle checkpoints are control mechanisms in eukaryotic cells which ensure proper division of the cell. Each checkpoint serves as a potential point along the cell cycle, during which the conditions of the cell are assessed, with progression through the various phases of the cell cycle occurring when favorable conditions are met. Currently, there are three known checkpoints: the G1 checkpoint, also known as the restriction or start checkpoint or (Major Checkpoint); the G2/M checkpoint; and the metaphase checkpoint, also known as the spindle checkpoint. Effects of MULTIFOLIATE-PINNA, AFILA, TENDRIL-LESS and UNIFOLIATA genes on leafblade architecture in Pisum sativum In order to dissect the genetic regulation of leafblade morphogenesis, 16 genotypes of pea, constructed.

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What is the function of CFTR? (details are important) (5 points) Solution Ans:- Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and chloride channel in vertebrates that is encoded by the CFTR gene.CFTR functions as a ATP gated anion channel increasing the conductance for certain anions to flow down their electrochemical gradient.ATP driven conformational changes in CFTR open and close a gate to allow transmembrane flow of anions down their electrochemical gradient. Essentially CFTR is an ion channel that evolved as a broken ABC transporter that leaks when in open conformation.The CFTR is found in the epithelial cells of many organs including the lungs,liver ,pancreas,digestive tract ,reproductive tract and skin.Normally the protein moves chloride and thiocyanate ions out of an epithelial cell covering mucus.Positively chargedsodium ions follow passively increasing the total electrolyte concentration in the mucus resulting in the movement of water out of the cell via osmosis.In sweat glands defective CSTR results in reduced transport of sodium chloride and sodium thiocyanate in the reabsorptive duct and therefore saltier sweat..

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Identify the following reaction: Glucose + Fructose rightarrow Sucrose + Water dehydration synthesis reaction hydrolysis reaction exchange reaction reversible reaction ionic reaction Solution Identify the following reaction: Glucose + Fructose Sucrose + Water A) Dehydration synthesis reaction --------answer B) Hydrolysis reaction C) Exchange reaction D) Reversible reaction E) Ionic reaction explanation: Dehydration synthesis : it is the process joining two particles, or mixes, together after the evacuation of water. the word dehydration, the primary thing that may come out is \'losing water\' or \'lacking water.\'.

Identify the following reaction Glucose + Fructose rightarrow Sucros.pdf

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identify the developmental genes that influence macroevolution Solution Developmental genes are the regulatory genes that regulate hundreds of genes of development and even a small genetic change in these genes leads to major structural changes in the organisms. These are the genes that distinguish one species from other species. These genes regulate the shape, pattern and type and location of organs of animal body. For ex: Hox genes serve to regulate the formation of particular regions of the body by encoding the related transcription factors and thereby regulate the fate of regions of body. Homeotic genes determine the future development of segments on the basis of the pattern of expression of the segmentation genes before them. Mutation in these genes leds to development of that segment to an adjacent segment, usually anterior to it. These genes are also called memory genes as they regulate developmental fate of a segment which is followed from one cell division to the next..

identify the developmental genes that influence macroevolutionSo.pdf

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